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Researchers have investigated the relationship between race and genetics as part of efforts to understand how biology may or may not contribute to human racial categorization. Many constructions of race are associated with
phenotypical In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological prop ...
traits and geographic ancestry, and scholars like
Carl Linnaeus Carl Linnaeus (; 23 May 1707 – 10 January 1778), also known after his ennoblement in 1761 as Carl von Linné Blunt (2004), p. 171. (), was a Swedish botanist, zoologist, taxonomist, and physician who formalised binomial nomenclature, ...
have proposed scientific models for the organization of race since at least the 18th century. Following the discovery of
Mendelian genetics Mendelian inheritance (also known as Mendelism) is a type of biological inheritance following the principles originally proposed by Gregor Mendel in 1865 and 1866, re-discovered in 1900 by Hugo de Vries and Carl Correns, and later populari ...
and the mapping of the human genome, questions about the biology of race have often been framed in terms of
genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar work ...
. A wide range of research methods have been employed to examine patterns of human variation and their relations to ancestry and racial groups, including studies of individual traits, studies of large populations and genetic clusters, and studies of genetic risk factors for disease. Research into race and genetics has also been criticized as emerging from, or contributing to,
scientific racism Scientific racism, sometimes termed biological racism, is the pseudoscience, pseudoscientific belief that empirical evidence exists to support or justify racism (racial discrimination), racial inferiority, or racial superiority.. "Few tragedies ...
. Some have interpreted genetic studies of traits and populations as evidence to justify social inequalities associated with race, despite the fact that patterns of human variation have been shown to be mostly clinal, with human genetic code being approximately 99.9% identical between individuals, and with no clear boundaries between groups. There is ongoing scientific debate regarding the definition and meaning of race in genetic and biomedical research. Some researchers argue that race can act as a "proxy" for genetic ancestry because individuals of the same racial category may share a common ancestry, but others advocate for distinguishing between biology and the social, political, cultural, and economic factors that contribute to race as most commonly understood.


Overview


The concept of race

The concept of "race" as a classification system of humans based on visible physical characteristics emerged over the last five centuries, influenced by European colonialism. However, there is widespread evidence of what would be described in modern terms as ''racial consciousness'' throughout the entirety of
recorded history Recorded history or written history describes the historical events that have been recorded in a written form or other documented communication which are subsequently evaluated by historians using the historical method. For broader world his ...
. For example, in Ancient Egypt there were four broad racial divisions of human beings: Egyptians, Asiatics, Libyans, and Nubians. There was also
Aristotle Aristotle (; grc-gre, Ἀριστοτέλης ''Aristotélēs'', ; 384–322 BC) was a Greek philosopher and polymath during the Classical period in Ancient Greece. Taught by Plato, he was the founder of the Peripatetic school of ...
of
Ancient Greece Ancient Greece ( el, Ἑλλάς, Hellás) was a northeastern Mediterranean civilization, existing from the Greek Dark Ages of the 12th–9th centuries BC to the end of classical antiquity ( AD 600), that comprised a loose collection of cu ...
, who once wrote: "The peoples of Asia... lack spirit, so that they are in continuous subjection and slavery." The concept has manifested in different forms based on social conditions of a particular group, often used to justify unequal treatment. Early influential attempts to classify humans into discrete races include 4 races in Carl Linnaeus's ''Systema Naturae'' (''Homo europaeus'', ''asiaticus'', ''americanus'', and ''afer'') and 5 races in Johann Friedrich Blumenbach's ''On the Natural Variety of Mankind''. Notably, over the next centuries, scholars argued for anywhere from 3 to more than 60 race categories. Race concepts have changed within a society over time; for example, in the United States social and legal designations of "White" have been inconsistently applied to Native Americans, Arab Americans, and Asian Americans, among other groups (''See main article: Definitions of whiteness in the United States''). Race categories also vary worldwide; for example, the same person might be perceived as belonging to a different category in the United States versus Brazil. Because of the arbitrariness inherent in the concept of race, it is difficult to relate it to biology in a straightforward way.


Race and human genetic variation

There is broad consensus across the biological and social sciences that race is a social construct, not an accurate representation of human genetic variation. Humans are remarkably genetically similar, sharing approximately 99.9% of their genetic code with one another. We nonetheless see wide individual variation in phenotype, which arises from both genetic differences and complex gene-environment interactions. The vast majority of this genetic variation occurs ''within'' groups; very little genetic variation differentiates ''between'' groups. Crucially, the between-group genetic differences that do exist do not map onto socially recognized categories of race. Furthermore, although human populations show some genetic clustering across geographic space, human genetic variation is " clinal", or continuous. This, in addition to the fact that different traits vary on different clines, makes it impossible to draw discrete genetic boundaries around human groups. Finally, insights from ancient DNA are revealing that no human population is "pure" – all populations represent a long history of migration and mixing. For example, the genetic makeup of European populations was massively transformed by waves of migrations of farmers from the Near East between 8,500-5,000 years ago and Yamnaya pastoralists from the Eurasian steppe beginning around 4,500 years ago. Even within historical times, different population groups throughout the world have experienced admixture events that led to their current genetic compositions. For instance, different populations of the Mediterranean, Asia Minor, and around the Arabian Sea exhibit recent historical geneflow from various Sub-Saharan populations, with the most recent influx of Sub-Saharan admixture ranging in date from AD980 to 1754. Populations of modern-day Central and Eastern Europe, from Poland in the west and Bulgaria in the south exhibit traces of north-eastern and eastern Asian genetic flow ranging in date from AD440 to 1080 and likely reflect a 'small genetic legacy' of the various Inner Asian nomads, including Huns, Magyars, and Bulgars.


Sources of human genetic variation

Genetic variation arises from
mutations In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, m ...
, from natural selection, migration between populations (
gene flow In population genetics, gene flow (also known as gene migration or geneflow and allele flow) is the transfer of genetic material from one population to another. If the rate of gene flow is high enough, then two populations will have equivalent a ...
) and from the reshuffling of genes through
sexual reproduction Sexual reproduction is a type of reproduction that involves a complex life cycle in which a gamete ( haploid reproductive cells, such as a sperm or egg cell) with a single set of chromosomes combines with another gamete to produce a zygote th ...
. Mutations lead to a change in the DNA structure, as the order of the bases are rearranged. Resultantly, different polypeptide proteins are coded. Some mutations may be positive and can help the individual survive more effectively in their environment. Mutation is counteracted by
natural selection Natural selection is the differential survival and reproduction of individuals due to differences in phenotype. It is a key mechanism of evolution, the change in the heritable traits characteristic of a population over generations. Cha ...
and by
genetic drift Genetic drift, also known as allelic drift or the Wright effect, is the change in the frequency of an existing gene variant (allele) in a population due to random chance. Genetic drift may cause gene variants to disappear completely and there ...
; note too the
founder effect In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population. It was first fully outlined by Ernst Mayr in 1942, us ...
, when a small number of initial founders establish a population which hence starts with a correspondingly small degree of genetic variation. Epigenetic inheritance involves
heritable Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic informa ...
changes in
phenotype In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology (biology), morphology or physical form and structure, its Developmental biology, developmental proc ...
(appearance) or
gene expression Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product that enables it to produce end products, protein or non-coding RNA, and ultimately affect a phenotype, as the final effect. T ...
caused by mechanisms other than changes in the DNA sequence. Human phenotypes are highly
polygenic A polygene is a member of a group of non- epistatic genes that interact additively to influence a phenotypic trait, thus contributing to multiple-gene inheritance (polygenic inheritance, multigenic inheritance, quantitative inheritance), a type of ...
(dependent on interaction by many genes) and are influenced by environment as well as by genetics.
Nucleotide diversity Nucleotide diversity is a concept in molecular genetics which is used to measure the degree of polymorphism within a population. One commonly used measure of nucleotide diversity was first introduced by Nei and Li in 1979. This measure is defi ...
is based on single mutations,
single nucleotide polymorphisms In genetics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently lar ...
(SNPs). The nucleotide diversity between humans is about 0.1 percent (one difference per one thousand
nucleotide Nucleotides are organic molecules consisting of a nucleoside and a phosphate. They serve as monomeric units of the nucleic acid polymers – deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), both of which are essential biomolecu ...
s between two humans chosen at random). This amounts to approximately three million SNPs (since the human genome has about three billion nucleotides). There are an estimated ten million SNPs in the human population. Research has shown that non-SNP (
structural A structure is an arrangement and organization of interrelated elements in a material object or system, or the object or system so organized. Material structures include man-made objects such as buildings and machines and natural objects such ...
) variation accounts for more human genetic variation than single nucleotide diversity. Structural variation includes
copy-number variation Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals. Copy number variation is a type of structural variation: specifically, it is a type of d ...
and results from deletions, inversions, insertions and duplications. It is estimated that approximately 0.4 to 0.6 percent of the genomes of unrelated people differ.


Genetic basis for race

Much scientific research has been organized around the question of whether or not there is genetic basis for race. In Luigi Luca Cavalli-Sforza's book (circa 1994) "The History and Geography of Human Genes" * he writes, "From a scientific point of view, the concept of race has failed to obtain any consensus; none is likely, given the gradual variation in existence. It may be objected that the racial stereotypes have a consistency that allows even the layman to classify individuals. However, the major stereotypes, all based on skin color, hair color and form, and facial traits, reflect superficial differences that are not confirmed by deeper analysis with more reliable genetic traits and whose origin dates from recent evolution mostly under the effect of climate and perhaps sexual selection". A more up-to-date and comprehensive book authored by geneticist David Reich (2018) reaffirms the conclusion that the traditional views which assert a biological basis for race are wrong:


Research methods

Scientists investigating human variation have used a series of methods to characterize how different populations vary.


Early studies of traits, proteins, and genes

Early racial classification attempts measured surface traits, particularly skin color, hair color and texture, eye color, and head size and shape. (Measurements of the latter through
craniometry Craniometry is measurement of the cranium (the main part of the skull), usually the human cranium. It is a subset of cephalometry, measurement of the head, which in humans is a subset of anthropometry, measurement of the human body. It is dis ...
were repeatedly discredited in the late 19th and mid-20th centuries due to a lack of correlation of phenotypic traits with racial categorization.Andrea Orsucci,
"Ariani, indogermani, stirpi mediterranee: aspetti del dibattito sulle razze europee (1870–1914)"
, '' Cromohs'', 1998
) In actuality, biological adaptation plays the biggest role in these bodily features and skin type. A relative handful of genes accounts for the inherited factors shaping a person's appearance. Humans have an estimated 19,000–20,000 human protein-coding genes. Richard Sturm and David Duffy describe 11 genes that affect skin pigmentation and explain most variations in
human skin color Human skin color ranges from the darkest brown to the lightest hues. Differences in skin color among individuals is caused by variation in pigmentation, which is the result of genetics (inherited from one's biological parents and or indiv ...
, the most significant of which are MC1R, ASIP, OCA2, and TYR. There is evidence that as many as 16 different genes could be responsible for
eye color Eye color is a polygenic phenotypic character determined by two distinct factors: the pigmentation of the eye's iris and the frequency-dependence of the scattering of light by the turbid medium in the stroma of the iris. In humans, the ...
in humans; however, the main two genes associated with eye color variation are '' OCA2'' and '' HERC2'', and both are localized in chromosome 15.


Analysis of blood proteins and between-group genetics

Before the discovery of DNA, scientists used blood proteins (the
human blood group systems The term human blood group systems is defined by the International Society of Blood Transfusion (ISBT) as systems in the human species where cell-surface antigens—in particular, those on blood cells—are "controlled at a single gene locus or b ...
) to study human genetic variation. Research by Ludwik and Hanka Herschfeld during
World War I World War I (28 July 1914 11 November 1918), often abbreviated as WWI, was List of wars and anthropogenic disasters by death toll, one of the deadliest global conflicts in history. Belligerents included much of Europe, the Russian Empire, ...
found that the incidence of blood groups A and B differed by region; for example, among Europeans 15 percent were group B and 40 percent group A. Eastern Europeans and Russians had a higher incidence of group B; people from India had the greatest incidence. The Herschfelds concluded that humans comprised two "biochemical races", originating separately. It was hypothesized that these two races later mixed, resulting in the patterns of groups A and B. This was one of the first theories of racial differences to include the idea that human variation did not correlate with genetic variation. It was expected that groups with similar proportions of blood groups would be more closely related, but instead it was often found that groups separated by great distances (such as those from Madagascar and Russia), had similar incidences. It was later discovered that the
ABO blood group system The ABO blood group system is used to denote the presence of one, both, or neither of the A and B antigens on erythrocytes. For human blood transfusions, it is the most important of the 43 different blood type (or group) classification system ...
is not just common to humans, but shared with other primates, and likely predates all human groups. In 1972,
Richard Lewontin Richard Charles Lewontin (March 29, 1929 – July 4, 2021) was an American evolutionary biologist, mathematician, geneticist, and social commentator. A leader in developing the mathematical basis of population genetics and evolutionary theory, ...
performed a FST statistical analysis using 17 markers (including blood-group proteins). He found that the majority of genetic differences between humans (85.4 percent) were found within a population, 8.3 percent were found between populations within a race and 6.3 percent were found to differentiate races (Caucasian, African, Mongoloid, South Asian Aborigines, Amerinds, Oceanians, and Australian Aborigines in his study). Since then, other analyses have found FST values of 6–10 percent between continental human groups, 5–15 percent between different populations on the same continent and 75–85 percent within populations.Lewontin, R. C. (2005)
"Confusions About Human Races"
''Race and Genomics'', Social Sciences Research Council. Retrieved 28 December 2006.
This view has been affirmed by the
American Anthropological Association The American Anthropological Association (AAA) is an organization of scholars and practitioners in the field of anthropology. With 10,000 members, the association, based in Arlington, Virginia, includes archaeologists, cultural anthropologists, ...
and the American Association of Physical Anthropologists since.


Critiques of blood protein analysis

While acknowledging Lewontin's observation that humans are genetically homogeneous,
A. W. F. Edwards Anthony William Fairbank Edwards, FRS (born 1935) is a British statistician, geneticist and evolutionary biologist. He is the son of the surgeon Harold C. Edwards, and brother of medical geneticist John H. Edwards. He has sometimes been called ...
in his 2003 paper " Human Genetic Diversity: Lewontin's Fallacy" argued that information distinguishing populations from each other is hidden in the correlation structure of allele frequencies, making it possible to classify individuals using mathematical techniques. Edwards argued that even if the probability of misclassifying an individual based on a single genetic marker is as high as 30 percent (as Lewontin reported in 1972), the misclassification probability nears zero if enough genetic markers are studied simultaneously. Edwards saw Lewontin's argument as based on a political stance, denying biological differences to argue for social equality. Edwards' paper is reprinted, commented upon by experts such as
Noah Rosenberg Noah Aubrey Rosenberg is a geneticist working in evolutionary biology, human genetics, and population genetics, now Professor at Stanford University. His research is concerned with quantifiable changes in the human genome over time, and he is famou ...
, and given further context in an interview with philosopher of science Rasmus Grønfeldt Winther in a recent anthology. As referred to before, Edwards criticises Lewontin's paper as he took 17 different traits and analysed them independently, without looking at them in conjunction with any other protein. Thus, it would have been fairly convenient for Lewontin to come up with the conclusion that racial naturalism is not tenable, according to his argument. Sesardic also strengthened Edwards' view, as he used an illustration referring to squares and triangles, and showed that if you look at one trait in isolation, then it will most likely be a bad predicator of which group the individual belongs to. In contrast, in a 2014 paper, reprinted in the 2018 Edwards Cambridge University Press volume, Rasmus Grønfeldt Winther argues that "Lewontin's Fallacy" is effectively a misnomer, as there really are two different sets of methods and questions at play in studying the genomic population structure of our species: "variance partitioning" and "clustering analysis." According to Winther, they are "two sides of the same mathematics coin" and neither "necessarily implies anything about the ''reality'' of human groups."


Current studies of population genetics

Researchers currently use
genetic testing Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or ...
, which may involve hundreds (or thousands) of
genetic marker A genetic marker is a gene or DNA sequence with a known location on a chromosome that can be used to identify individuals or species. It can be described as a variation (which may arise due to mutation or alteration in the genomic loci) that can be ...
s or the entire genome.


Structure

Several methods to examine and quantify genetic subgroups exist, including
cluster may refer to: Science and technology Astronomy * Cluster (spacecraft), constellation of four European Space Agency spacecraft * Asteroid cluster, a small asteroid family * Cluster II (spacecraft), a European Space Agency mission to study th ...
and
principal components analysis Principal component analysis (PCA) is a popular technique for analyzing large datasets containing a high number of dimensions/features per observation, increasing the interpretability of data while preserving the maximum amount of information, and ...
. Genetic markers from individuals are examined to find a population's genetic structure. While subgroups overlap when examining variants of one marker only, when a number of markers are examined different subgroups have different average genetic structure. An individual may be described as belonging to several subgroups. These subgroups may be more or less distinct, depending on how much overlap there is with other subgroups. In cluster analysis, the number of clusters to search for ''K'' is determined in advance; how distinct the clusters are varies. The results obtained from cluster analyses depend on several factors: * A large number of genetic markers studied facilitates finding distinct clusters. * Some genetic markers vary more than others, so fewer are required to find distinct clusters.
Ancestry-informative marker In population genetics, an ancestry-informative marker (AIM) is a single-nucleotide polymorphism that exhibits substantially different frequencies between different populations. A set of many AIMs can be used to estimate the proportion of ancestry ...
s exhibits substantially different frequencies between populations from different geographical regions. Using AIMs, scientists can determine a person's ancestral continent of origin based solely on their DNA. AIMs can also be used to determine someone's admixture proportions. * The more individuals studied, the easier it becomes to detect distinct clusters ( statistical noise is reduced). * Low genetic variation makes it more difficult to find distinct clusters. Greater geographic distance generally increases genetic variation, making identifying clusters easier. *A similar cluster structure is seen with different genetic markers when the number of genetic markers included is sufficiently large. The clustering structure obtained with different statistical techniques is similar. A similar cluster structure is found in the original sample with a subsample of the original sample. Recent studies have been published using an increasing number of genetic markers. Focus on study of structure has been criticized for giving the general public a misleading impression of human genetic variation, obscuring the general finding that genetic variants which are limited to one region tend to be rare within that region, variants that are common within a region tend to be shared across the globe, and most differences between individuals, whether they come from the same region or different regions, are due to global variants.


Distance

Genetic distance Genetic distance is a measure of the genetic divergence between species or between populations within a species, whether the distance measures time from common ancestor or degree of differentiation. Populations with many similar alleles have s ...
is genetic divergence between species or populations of a species. It may compare the genetic similarity of related species, such as humans and chimpanzees. Within a species, genetic distance measures divergence between subgroups. Genetic distance significantly correlates to geographic distance between populations, a phenomenon sometimes known as "
isolation by distance Isolation by distance (IBD) is a term used to refer to the accrual of local genetic variation under geographically limited dispersal. The IBD model is useful for determining the distribution of gene frequencies over a geographic region. Both disp ...
". Genetic distance may be the result of physical boundaries restricting gene flow such as islands, deserts, mountains or forests. Genetic distance is measured by the fixation index (FST). FST is the correlation of randomly chosen
allele An allele (, ; ; modern formation from Greek ἄλλος ''állos'', "other") is a variation of the same sequence of nucleotides at the same place on a long DNA molecule, as described in leading textbooks on genetics and evolution. ::"The chrom ...
s in a subgroup to a larger population. It is often expressed as a proportion of genetic diversity. This comparison of genetic variability within (and between) populations is used in
population genetics Population genetics is a subfield of genetics that deals with genetic differences within and between populations, and is a part of evolutionary biology. Studies in this branch of biology examine such phenomena as adaptation, speciation, and po ...
. The values range from 0 to 1; zero indicates the two populations are freely interbreeding, and one would indicate that two populations are separate. Many studies place the average FST distance between human races at about 0.125.
Henry Harpending Henry Cosad Harpending (January 13, 1944 – April 3, 2016) was an American anthropologist and writer. He was a distinguished professor at the University of Utah, and formerly taught at Penn State and the University of New Mexico. He was a member ...
argued that this value implies on a world scale a "kinship between two individuals of the same human population is equivalent to kinship between grandparent and grandchild or between half siblings". In fact, the formulas derived in Harpending's paper in the "Kinship in a subdivided population" section imply that two unrelated individuals of the same race have a higher coefficient of kinship (0.125) than an individual and their mixed race half-sibling (0.109).


Critiques of FST

While acknowledging that FST remains useful, a number of scientists have written about other approaches to characterizing human genetic variation. Long & Kittles (2009) stated that FST failed to identify important variation and that when the analysis includes only humans, FST = 0.119, but adding chimpanzees increases it only to FST = 0.183. Mountain & Risch (2004) argued that an FST estimate of 0.10–0.15 does not rule out a genetic basis for phenotypic differences between groups and that a low FST estimate implies little about the degree to which genes contribute to between-group differences. Pearse & Crandall 2004 wrote that FST figures cannot distinguish between a situation of high migration between populations with a long divergence time, and one of a relatively recent shared history but no ongoing gene flow. In their 2015 article, Keith Hunley, Graciela Cabana, and Jeffrey Long (who had previously criticized Lewontin's statistical methodology with Rick Kittles) recalculate the apportionment of human diversity using a more complex model than Lewontin and his successors. They conclude: "In sum, we concur with Lewontin's conclusion that Western-based racial classifications have no taxonomic significance, and we hope that this research, which takes into account our current understanding of the structure of human diversity, places his seminal finding on firmer evolutionary footing." Anthropologists (such as C. Loring Brace), philosopher Jonathan Kaplan and geneticist Joseph Graves have argued that while it is possible to find biological and genetic variation roughly corresponding to race, this is true for almost all geographically distinct populations: the cluster structure of genetic data is dependent on the initial hypotheses of the researcher and the populations sampled. When one samples continental groups, the clusters become continental; with other sampling patterns, the clusters would be different. Weiss and Fullerton note that if one sampled only Icelanders, Mayans and Maoris, three distinct clusters would form; all other populations would be composed of genetic admixtures of Maori, Icelandic and Mayan material. Kaplan therefore concludes that, while differences in particular allele frequencies can be used to identify populations that loosely correspond to the racial categories common in Western social discourse, the differences are of no more biological significance than the differences found between any human populations (e.g., the Spanish and Portuguese).


Historical and geographical analyses

Current-population genetic structure does not imply that differing clusters or components indicate only one ancestral home per group; for example, a genetic cluster in the US comprises Hispanics with European, Native American and African ancestry. Geographic analyses attempt to identify places of origin, their relative importance and possible causes of genetic variation in an area. The results can be presented as maps showing genetic variation. Cavalli-Sforza and colleagues argue that if genetic variations are investigated, they often correspond to population migrations due to new sources of food, improved transportation or shifts in political power. For example, in Europe the most significant direction of genetic variation corresponds to the spread of agriculture from the Middle East to Europe between 10,000 and 6,000 years ago.Luigi Luca Cavalli-Sforza
"Genes, peoples, and languages"
''Proceedings of the National Academy of Sciences'', 1997, vol.94, pp.7719–7724,
Such geographic analysis works best in the absence of recent large-scale, rapid migrations. Historic analyses use differences in genetic variation (measured by genetic distance) as a
molecular clock The molecular clock is a figurative term for a technique that uses the mutation rate of biomolecules to deduce the time in prehistory when two or more life forms diverged. The biomolecular data used for such calculations are usually nucleo ...
indicating the evolutionary relation of species or groups, and can be used to create
evolutionary tree A phylogenetic tree (also phylogeny or evolutionary tree Felsenstein J. (2004). ''Inferring Phylogenies'' Sinauer Associates: Sunderland, MA.) is a branching diagram or a tree showing the evolutionary relationships among various biological spec ...
s reconstructing population separations. Results of genetic-ancestry research are supported if they agree with research results from other fields, such as
linguistics Linguistics is the scientific study of human language. It is called a scientific study because it entails a comprehensive, systematic, objective, and precise analysis of all aspects of language, particularly its nature and structure. Ling ...
or
archeology Archaeology or archeology is the scientific study of human activity through the recovery and analysis of material culture. The archaeological record consists of Artifact (archaeology), artifacts, architecture, biofact (archaeology), biofacts ...
. Cavalli-Sforza and colleagues have argued that there is a correspondence between
language families A language family is a group of languages related through descent from a common ''ancestral language'' or ''parental language'', called the proto-language of that family. The term "family" reflects the tree model of language origination in hi ...
found in linguistic research and the population tree they found in their 1994 study. There are generally shorter genetic distances between populations using languages from the same language family. Exceptions to this rule are also found, for example
Sami Acronyms * SAMI, ''Synchronized Accessible Media Interchange'', a closed-captioning format developed by Microsoft * Saudi Arabian Military Industries, a government-owned defence company * South African Malaria Initiative, a virtual expertise ...
, who are genetically associated with populations speaking languages from other language families. The Sami speak a
Uralic language The Uralic languages (; sometimes called Uralian languages ) form a language family of 38 languages spoken by approximately 25million people, predominantly in Northern Eurasia. The Uralic languages with the most native speakers are Hungarian (w ...
, but are genetically primarily European. This is argued to have resulted from migration (and interbreeding) with Europeans while retaining their original language. Agreement also exists between research dates in archeology and those calculated using genetic distance.


Self-identification studies

Jorde and Wooding found that while clusters from genetic markers were correlated with some traditional concepts of race, the correlations were imperfect and imprecise due to the continuous and overlapping nature of genetic variation, noting that ancestry, which can be accurately determined, is not equivalent to the concept of race. A 2005 study by Tang and colleagues used 326 genetic markers to determine genetic clusters. The 3,636 subjects, from the
United States The United States of America (U.S.A. or USA), commonly known as the United States (U.S. or US) or America, is a country Continental United States, primarily located in North America. It consists of 50 U.S. state, states, a Washington, D.C., ...
and
Taiwan Taiwan, officially the Republic of China (ROC), is a country in East Asia, at the junction of the East and South China Seas in the northwestern Pacific Ocean, with the People's Republic of China (PRC) to the northwest, Japan to the no ...
, self-identified as belonging to white, African American, East Asian or Hispanic ethnic groups. The study found "nearly perfect correspondence between genetic cluster and SIRE for major ethnic groups living in the United States, with a discrepancy rate of only 0.14 percent". Paschou et al. found "essentially perfect" agreement between 51 self-identified populations of origin and the population's genetic structure, using 650,000 genetic markers. Selecting for informative genetic markers allowed a reduction to less than 650, while retaining near-total accuracy. Correspondence between genetic clusters in a population (such as the current US population) and self-identified race or ethnic groups does not mean that such a cluster (or group) corresponds to only one ethnic group. African Americans have an estimated 20–25-percent European genetic admixture; Hispanics have European, Native American and African ancestry. In Brazil there has been extensive admixture between Europeans, Amerindians and Africans. As a result, skin color differences within the population are not gradual, and there are relatively weak associations between self-reported race and African ancestry. Ethnoracial self- classification in Brazilians is certainly not random with respect to genome individual ancestry, but the strength of the association between the phenotype and median proportion of African ancestry varies largely across population.


Critique of genetic-distance studies and clusters

Genetic distances generally increase continually with geographic distance, which makes a dividing line arbitrary. Any two neighboring settlements will exhibit some genetic difference from each other, which could be defined as a race. Therefore, attempts to classify races impose an artificial discontinuity on a naturally occurring phenomenon. This explains why studies on population genetic structure yield varying results, depending on methodology. Rosenberg and colleagues (2005) have argued, based on cluster analysis of the 52 populations in the Human Genetic Diversity Panel, that populations do not always vary continuously and a population's genetic structure is consistent if enough genetic markers (and subjects) are included. They also wrote, regarding a model with five clusters corresponding to Africa, Eurasia (Europe, Middle East, and Central/South Asia), East Asia, Oceania, and the Americas: This applies to populations in their ancestral homes when migrations and gene flow were slow; large, rapid migrations exhibit different characteristics. Tang and colleagues (2004) wrote, "we detected only modest genetic differentiation between different current geographic locales within each race/ethnicity group. Thus, ancient geographic ancestry, which is highly correlated with self-identified race/ethnicity—as opposed to current residence—is the major determinant of genetic structure in the U.S. population". Cluster analysis has been criticized because the number of clusters to search for is decided in advance, with different values possible (although with varying degrees of probability).
Principal component analysis Principal component analysis (PCA) is a popular technique for analyzing large datasets containing a high number of dimensions/features per observation, increasing the interpretability of data while preserving the maximum amount of information, and ...
does not decide in advance how many components for which to search. The 2002 study by Rosenberg et al. exemplifies why meanings of these clusterings are disputable. The study shows that at the K=5 cluster analysis, genetic clusterings roughly map onto each of the five major geographical regions. Similar results were gathered in further studies in 2005.


Critique of ancestry-informative markers

Ancestry-informative marker In population genetics, an ancestry-informative marker (AIM) is a single-nucleotide polymorphism that exhibits substantially different frequencies between different populations. A set of many AIMs can be used to estimate the proportion of ancestry ...
s (AIMs) are a genealogy tracing technology that has come under much criticism due to its reliance on reference populations. In a 2015 article, Troy Duster outlines how contemporary technology allows the tracing of ancestral lineage but along only the lines of one maternal and one paternal line. That is, of 64 total great-great-great-great-grandparents, only one from each parent is identified, implying the other 62 ancestors are ignored in tracing efforts. Furthermore, the 'reference populations' used as markers for membership of a particular group are designated arbitrarily and contemporarily. In other words, using populations who currently reside in given places as references for certain races and ethnic groups is unreliable due to the demographic changes which have occurred over many centuries in those places. Furthermore, ancestry-informative markers being widely shared among the whole human population, it is their frequency which is tested, not their mere absence/presence. A threshold of relative frequency has, therefore, to be set. According to Duster the criteria for setting such thresholds are a trade secret of the companies marketing the tests. Thus, we cannot say anything conclusive on whether they are appropriate. Results of AIMs are extremely sensitive to where this bar is set. Given that many genetic traits are found very similar amid many different populations, the rate of frequency which is taken to be enough for being part of a reference population is very important. This can also lead to mistakes, given that many populations may share the same patterns, if not exactly the same genes. "This means that someone from Bulgaria whose ancestors go back to the fifteenth century could (and sometime does) map as partly 'Native American. This happens because AIMs rely on a '100% purity' assumption of reference populations. That is, they assume that a pattern of traits would ideally be necessary and sufficient condition for assigning an individual to an ancestral reference populations.


Race, genetics, and medicine

There are certain statistical differences between racial groups in susceptibility to certain diseases. Genes change in response to local diseases; for example, people who are Duffy-negative tend to have a higher resistance to malaria. The Duffy negative phenotype is highly frequent in central Africa and the frequency decreases with distance away from Central Africa, with higher frequencies in global populations with high degrees of recent African immigration. This suggests that the Duffy negative genotype evolved in Sub-Saharan Africa and was subsequently positively selected for in the Malaria endemic zone. A number of genetic conditions prevalent in malaria-endemic areas may provide genetic resistance to malaria, including
sickle cell disease Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents. The most common type is known as sickle cell anaemia. It results in an abnormality in the oxygen-carrying protein haemoglobin found in red b ...
, thalassaemias and
glucose-6-phosphate dehydrogenase Glucose-6-phosphate dehydrogenase (G6PD or G6PDH) () is a cytosolic enzyme that catalyzes the chemical reaction : D-glucose 6-phosphate + NADP+ + H2O 6-phospho-D-glucono-1,5-lactone + NADPH + H+ This enzyme participates in the pentose phospha ...
.
Cystic fibrosis Cystic fibrosis (CF) is a rare genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Ot ...
is the most common life-limiting
autosomal recessive In genetics, dominance is the phenomenon of one variant ( allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant an ...
disease among people of European ancestry; a hypothesized
heterozygote advantage A heterozygote advantage describes the case in which the heterozygous genotype has a higher relative fitness than either the homozygous dominant or homozygous recessive genotype. Loci exhibiting heterozygote advantage are a small minority of ...
, providing resistance to diseases earlier common in Europe, has been challenged. Scientists Michael Yudell, Dorothy Roberts, Rob DeSalle, and Sarah Tishkoff argue that using these associations in the practice of medicine has led doctors to overlook or misidentify disease: "For example, hemoglobinopathies can be misdiagnosed because of the identification of sickle-cell as a 'Black' disease and thalassemia as a 'Mediterranean' disease. Cystic fibrosis is underdiagnosed in populations of African ancestry, because it is thought of as a 'White' disease." Information about a person's population of origin may aid in
diagnosis Diagnosis is the identification of the nature and cause of a certain phenomenon. Diagnosis is used in many different disciplines, with variations in the use of logic, analytics, and experience, to determine "cause and effect". In systems engin ...
, and adverse drug responses may vary by group. Because of the correlation between self-identified race and genetic clusters, medical treatments influenced by genetics have varying rates of success between self-defined racial groups. For this reason, some physicians consider a patient's race in choosing the most effective treatment, and some drugs are marketed with race-specific instructions. Jorde and Wooding (2004) have argued that because of genetic variation within racial groups, when "it finally becomes feasible and available, individual genetic assessment of relevant genes will probably prove more useful than race in medical decision making". However, race continues to be a factor when examining groups (such as epidemiologic research). Some doctors and scientists such as geneticist
Neil Risch Neil Risch is an American human geneticist and professor at the University of California, San Francisco (UCSF). Risch is the Lamond Family Foundation Distinguished Professor in Human Genetics and Director of the Institute for Human Genetics and P ...
argue that using self-identified race as a proxy for ancestry is necessary to be able to get a sufficiently broad sample of different ancestral populations, and in turn to be able to provide health care that is tailored to the needs of minority groups.


Usage in scientific journals

Some scientific journals have addressed previous methodological errors by requiring more rigorous scrutiny of population variables. Since 2000, ''
Nature Genetics ''Nature Genetics'' is a peer-reviewed scientific journal published by Nature Portfolio. It was established in 1992. It covers research in genetics. The chief editor is Tiago Faial. The journal encompasses genetic and functional genomic studie ...
'' requires its authors to "explain why they make use of particular ethnic groups or populations, and how classification was achieved". Editors of ''Nature Genetics'' say that "
hey Hey or Hey! may refer to: Music * Hey (band), a Polish rock band Albums * ''Hey'' (Andreas Bourani album) or the title song (see below), 2014 * ''Hey!'' (Julio Iglesias album) or the title song, 1980 * ''Hey!'' (Jullie album) or the title ...
hope that this will raise awareness and inspire more rigorous designs of genetic and epidemiological studies". A 2021 study that examined over 11,000 papers from 1949 to 2018 in The
American Journal of Human Genetics The ''American Journal of Human Genetics'' is a monthly peer-reviewed scientific journal in the field of human genetics. It was established in 1948 by the American Society of Human Genetics and covers all aspects of heredity in humans, includin ...
, found that "race" was used in only 5% of papers published in the last decade, down from 22% in the first. Together with an increase in use of the terms "ethnicity," "ancestry," and location-based terms, it suggests that human geneticists have mostly abandoned the term "race."


Gene-environment interactions

Lorusso and Bacchini argue that self-identified race is of greater use in medicine as it correlates strongly with risk-related exposomes that are potentially heritable when they become embodied in the
epigenome An epigenome consists of a record of the chemical changes to the DNA and histone proteins of an organism; these changes can be passed down to an organism's offspring via transgenerational stranded epigenetic inheritance. Changes to the epigenome ...
. They summarise evidence of the link between racial discrimination and health outcomes due to poorer food quality, access to healthcare, housing conditions, education, access to information, exposure to infectious agents and toxic substances, and material scarcity. They also cite evidence that this process can work positively – for example, the psychological advantage of perceiving oneself at the top of a social hierarchy is linked to improved health. However they caution that the effects of discrimination do not offer a complete explanation for differential rates of disease and risk factors between racial groups, and the employment of self-identified race has the potential to reinforce racial inequalities.


Objections to racial naturalism

Racial naturalism is the view that racial classifications are grounded in objective patterns of genetic similarities and differences. Proponents of this view have justified it using the scientific evidence described above. However, this view is controversial and philosophers of race have put forward four main objections to it. Semantic objections, such as the discreteness objection, argue that the human populations picked out in population-genetic research are not races and do not correspond to what "race" means in the United States. "The discreteness objection does not require there to be no genetic admixture in the human species in order for there to be US 'racial groups' ... rather ... what the objection claims is that membership in US racial groups is different from membership in continental populations. ... Thus, strictly speaking, Blacks are not identical to Africans, Whites are not identical to Eurasians, Asians are not identical to East Asians and so forth." Therefore, it could be argued that scientific research is not really about race. The next two objections, are metaphysical objections which argue that even if the semantic objections fail, human genetic clustering results do not support the biological reality of race. The 'very important objection' stipulates that races in the US definition fail to be important to biology, in the sense that continental populations do not form biological subspecies. The 'objectively real objection' states that "US racial groups are not biologically real because they are not objectively real in the sense of existing independently of human interest, belief, or some other mental state of humans." Racial naturalists, such as Quayshawn Spencer, have responded to each of these objections with counter-arguments. There are also methodological critics who reject racial naturalism because of concerns relating to the experimental design, execution, or interpretation of the relevant population-genetic research. Another semantic objection is the visibility objection which refutes the claim that there are US racial groups in human population structures. Philosophers such as Joshua Glasgow and Naomi Zack believe that US racial groups cannot be defined by visible traits, such as skin colour and physical attributes: "The ancestral genetic tracking material has no effect on phenotypes, or biological traits of organisms, which would include the traits deemed racial, because the ancestral tracking genetic material plays no role in the production of proteins it is not the kind of material that 'codes' for protein production." Spencer contends that certain racial discourses require visible groups, but disagrees that this is a requirement in all US racial discourse. A different objection states that US racial groups are not biologically real because they are not objectively real in the sense of existing independently of some mental state of humans. Proponents of this second metaphysical objection include Naomi Zack and Ron Sundstrom. Spencer argues that an entity can be both biologically real and socially constructed. Spencer states that in order to accurately capture real biological entities, social factors must also be considered. It has been argued that knowledge of a person's race is limited in value, since people of the same race vary from one another. David J. Witherspoon and colleagues have argued that when individuals are assigned to population groups, two randomly chosen individuals from different populations can resemble each other more than a randomly chosen member of their own group. They found that many thousands of genetic markers had to be used for the answer to "How often is a pair of individuals from one population genetically more dissimilar than two individuals chosen from two different populations?" to be "Never". This assumed three population groups, separated by large geographic distances (European, African and East Asian). The global human population is more complex, and studying a large number of groups would require an increased number of markers for the same answer. They conclude that "caution should be used when using geographic or genetic ancestry to make inferences about individual phenotypes", and "The fact that, given enough genetic data, individuals can be correctly assigned to their populations of origin is compatible with the observation that most human genetic variation is found within populations, not between them. It is also compatible with our finding that, even when the most distinct populations are considered and hundreds of loci are used, individuals are frequently more similar to members of other populations than to members of their own population". This is similar to the conclusion reached by anthropologist
Norman Sauer Norman J. Sauer is an American forensic anthropologist and professor emeritus of anthropology at Michigan State University (MSU). Education Sauer received his undergraduate degree from the State University of New York at Geneseo and his Ph.D. from ...
in a 1992 article on the ability of forensic anthropologists to assign "race" to a skeleton, based on craniofacial features and limb morphology. Sauer said, "the successful assignment of race to a skeletal specimen is not a vindication of the race concept, but rather a prediction that an individual, while alive was assigned to a particular socially constructed 'racial' category. A specimen may display features that point to African ancestry. In this country that person is likely to have been labeled Black regardless of whether or not such a race actually exists in nature".


Criticism of race-based medicines

Troy Duster points out that genetics is often not the predominant determinant of disease susceptibilities, even though they might correlate with specific socially defined categories. This is because this research oftentimes lacks control for a multiplicity of socio-economic factors. He cites data collected by King and Rewers that indicates how dietary differences play a significant role in explaining variations of diabetes prevalence between populations. Duster elaborates by putting forward the example of the Pima of
Arizona Arizona ( ; nv, Hoozdo Hahoodzo ; ood, Alĭ ṣonak ) is a state in the Southwestern United States. It is the 6th largest and the 14th most populous of the 50 states. Its capital and largest city is Phoenix. Arizona is part of the Fou ...
, a population suffering from disproportionately high rates of
diabetes Diabetes, also known as diabetes mellitus, is a group of metabolic disorders characterized by a high blood sugar level ( hyperglycemia) over a prolonged period of time. Symptoms often include frequent urination, increased thirst and increased ...
. The reason for such, he argues, was not necessarily a result of the prevalence of the FABP2 gene, which is associated with
insulin resistance Insulin resistance (IR) is a pathological condition in which cells fail to respond normally to the hormone insulin. Insulin is a hormone that facilitates the transport of glucose from blood into cells, thereby reducing blood glucose (blood sugar ...
. Rather he argues that scientists often discount the lifestyle implications under specific socio-historical contexts. For instance, near the end of the 19th century, the Pima economy was predominantly agriculture-based. However, as the European American population settles into traditionally Pima territory, the Pima lifestyles became heavily Westernised. Within three decades, the incidence of diabetes increased multiple folds. Governmental provision of free relatively high-fat food to alleviate the prevalence of poverty in the population is noted as an explanation of this phenomenon. Lorusso and Bacchini argue against the assumption that "self-identified race is a good proxy for a specific genetic ancestry" on the basis that self-identified race is complex: it depends on a range of psychological, cultural and social factors, and is therefore "not a robust proxy for genetic ancestry". Furthermore, they explain that an individual's self-identified race is made up of further, collectively arbitrary factors: personal opinions about what race is and the extent to which it should be taken into consideration in everyday life. Furthermore, individuals who share a genetic ancestry may differ in their racial self-identification across historical or socioeconomic contexts. From this, Lorusso and Bacchini conclude that the accuracy in the prediction of genetic ancestry on the basis of self-identification is low, specifically in racially admixed populations born out of complex ancestral histories.


See also

* * , section; 4.2 Race, identity and cranio-facial description * *


References


Further reading

* * * This review of current research includes chapters by Jonathan Marks, John Dupré, Sally Haslanger, Deborah A. Bolnick, Marcus W. Feldman, Richard C. Lewontin, Sarah K. Tate, David B. Goldstein, Jonathan Kahn, Duana Fullwiley, Molly J. Dingel, Barbara A. Koenig, Mark D. Shriver, Rick A. Kittles, Henry T. Greely, Kimberly Tallbear, Alondra Nelson, Pamela Sankar, Sally Lehrman, Jenny Reardon, Jacqueline Stevens, and Sandra Soo-Jin Lee. * * * * * * * * * {{DEFAULTSORT:Race And Genetics Genetic genealogy
Genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar work ...
Human population genetics Biological anthropology