Skin pigmentation, biogeographical ancestry and admixture mapping
Abstract
Ancestry informative markers (AIMs) are genetic loci showing alleles with large frequency differences between populations. AIMs can be used to estimate biogeographical ancestry at the level of the population, subgroup (e.g. cases and controls) and individual. Ancestry estimates at both the subgroup and individual level can be directly instructive regarding the genetics of the phenotypes that differ qualitatively or in frequency between populations. These estimates can provide a compelling foundation for the use of admixture mapping (AM) methods to identify the genes underlying these traits. We present details of a panel of 34 AIMs and demonstrate how such studies can proceed, by using skin pigmentation as a model phenotype. We have genotyped these markers in two population samples with primarily African ancestry, viz. African Americans from Washington D.C. and an African Caribbean sample from Britain, and in a sample of European Americans from Pennsylvania. In the two African population samples, we observed significant correlations between estimates of individual ancestry and skin pigmentation as measured by reflectometry (R(2)=0.21, P<0.0001 for the African-American sample and R(2)=0.16, P<0.0001 for the British African-Caribbean sample). These correlations confirm the validity of the ancestry estimates and also indicate the high level of population structure related to admixture, a level that characterizes these populations and that is detectable by using other tests to identify genetic structure. We have also applied two methods of admixture mapping to test for the effects of three candidate genes (TYR, OCA2, MC1R) on pigmentation. We show that TYR and OCA2 have measurable effects on skin pigmentation differences between the west African and west European parental populations. This work indicates that it is possible to estimate the individual ancestry of a person based on DNA analysis with a reasonable number of well-defined genetic markers. The implications and applications of ancestry estimates in biomedical research are discussed.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Sex is a known confounder with skin pigmentation.
“Sex is a known confounder with skin pigmentation 24 that was not explicitly matched for in selecting study participants; thus, it was also included as a covariate in logistic regression.”
From A Genomewide Association Study of Skin Pigmentation in a South Asian Population (2007) · cites this paper as [24]
The TYR SNP rs1042602 is highly polymorphic in all European populations, but previous studies found that this SNP was not significantly associated with skin-reflectance measurements in a white population.
“In comparison, the TYR SNP rs1042602 is highly polymorphic in all European populations, but, despite its variability, previous studies found that this SNP was not significantly associated with skin-reflectance measurements in a white population.13,21,24,29”
From A Genomewide Association Study of Skin Pigmentation in a South Asian Population (2007) · cites this paper as [24]
A missense alteration in TYR, S192Y (rs1042602), is in linkage disequilibrium with the most significant SNP in GRM5 (rs10831496) in this sample.
“a missense alteration in TYR, S192Y (rs1042602) [11] (Figure 4b), is in linkage disequilibrium with the most significant SNP in GRM5 (rs10831496) in this sample”
From Genetic Architecture of Skin and Eye Color in an African-European Admixed Population (2013) · cites this paper as [11]
OCA2 was originally considered a strong candidate gene for Afro-European pigmentary variation based on allele distribution patterns of closely linked SNPs and because of a strong association with blue vs. brown eye color in populations of European ancestry.
“OCA2 was originally considered a strong candidate gene for Afro-European pigmentary variation based on allele distribution patterns of closely linked SNPs [11], [14], [34], [35], and because of a strong association with blue vs. brown eye color in populations of European ancestry [4], [41].”
From Genetic Architecture of Skin and Eye Color in an African-European Admixed Population (2013) · cites this paper as [11]
The same trend in M index was reported previously in a sample of European Americans.
“The same trend in M index was reported previously in a sample of European Americans [38].”
From Genome-Wide Association Studies of Quantitatively Measured Skin, Hair, and Eye Pigmentation in Four European Populations (2012) · cites this paper as [38]
Differences in skin pigmentation between sexes are likely population specific: whereas DermaSpectrometer M index measurements in this study show European males to have lighter skin pigmentation than European females, measurements in Island Melanesian, African Caribbeans, and African Americans have shown that in these populations males have darker skin pigmentation than females.
“Lastly, we emphasize that differences in skin pigmentation between sexes are likely population specific. Whereas DermaSpectrometer M index measurements in this study show European males to have lighter skin pigmentation than European females, DermaSpectrometer M index measurements of skin pigmentation in Island Melanesian, African Caribbeans, and African Americans have shown that in these populat”
From Genome-Wide Association Studies of Quantitatively Measured Skin, Hair, and Eye Pigmentation in Four European Populations (2012) · cites this paper as [38]
The rs1042602 (p.Ser192Tyr) variant of TYR, affecting the rate-limiting enzyme in melanin biosynthesis, further reduces melanin levels.
“The rs1042602 (p.Ser192Tyr) variant of TYR , affecting the rate-limiting enzyme in melanin biosynthesis, further reduces melanin levels ( Shriver et al., 2003 ).”
From The genetic architecture of human skin pigmentation: evolution and adaptation across global populations (2026) · cites this paper as Shriver et al., 2003
Cites
Inference of Population Structure Using Multilocus Genotype Data
Pritchard, J. K., Stephens, M., & Donnelly, P. (2000) · Genetics · doi:10.1093/genetics/155.2.945 · Cited by 33,871 · see citing works
The Future of Genetic Studies of Complex Human Diseases
Risch, N., & Merikangas, K. (1996) · Science · doi:10.1126/science.273.5281.1516 · Cited by 5,355 · see citing works
The Apportionment of Human Diversity
Lewontin, R. C. (1972) · Evolutionary Biology · doi:10.1007/978-1-4684-9063-3_14 · Cited by 2,472 · see citing works
Valverde, P., Healy, E., Jackson, I., Rees, J. L., & Thody, A. J. (1995) · Nature Genetics · doi:10.1038/ng1195-328 · Cited by 999 · see citing works
Estimating African American Admixture Proportions by Use of Population-Specific Alleles
Parra, E. J., Marcini, A., Akey, J., Martinson, J., Batzer, M. A., Cooper, R., Forrester, T., Allison, D. B., Deka, R., Ferrell, R. E., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/302148 · Cited by 771 · cited 6× · see citing works
“…it is also extremely important to control for the genetic structure (inter-individual variation in admixture proportions) present in these populations in order to avoid false positives (Parra et al.1998; Lautenberger et al.2000; Pfaff et al. 2001; Nordborg and Tavaré 2002; Kittles et al. 2002).”
BackgroundResultInfluentialSelf-citationLinkage disequilibrium: what history has to tell us.
Nordborg, M., & Tavaré, S. (2002) · Trends in Genetics · doi:10.1016/s0168-9525(02)02557-x · Cited by 555 · see citing works
An E-M algorithm and testing strategy for multiple-locus haplotypes.
Long, J. C., Williams, R. C., & Urbanek, M. (1995) · Europe PMC (PubMed Central) · Cited by 533 · see citing works
Jorde, L. B., Watkins, W. S., Bamshad, M. J., Dixon, M., Ricker, C. E., Seielstad, M. T., & Batzer, M. A. (2000) · The American Journal of Human Genetics · doi:10.1086/302825 · Cited by 516 · see citing works
Linkage disequilibrium and the search for complex disease genes.Preprint
Jorde, L. (2000) · Genome Research · doi:10.1101/gr.144500 · Cited by 422 · see citing works
Kennedy, C., ter Huurne, J., Berkhout, M., Gruis, N. A., Bastiaens, M. T., Bergman, W., Willemze, R., & Bavinck, J. N. B. (2001) · Journal of Investigative Dermatology · doi:10.1046/j.0022-202x.2001.01421.x · Cited by 407 · see citing works
Chakraborty, R., & Weiss, K. (1988) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.85.23.9119 · Cited by 404 · see citing works
Human pigmentation genes: identification, structure and consequences of polymorphic variation
Sturm, R. A., Teasdale, R. D., & Box, N. F. (2001) · Gene · doi:10.1016/s0378-1119(01)00694-1 · Cited by 388 · see citing works
Population choice in mapping genes for complex diseases
Wright, A., Carothers, A., & Pirastu, M. (1999) · Nature Genetics · doi:10.1038/70501 · Cited by 377 · see citing works
The genetics of pigmentation: from fancy genes to complex traits
Barsh, G. S. (1996) · Trends in Genetics · doi:10.1016/0168-9525(96)10031-7 · Cited by 364 · see citing works
The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma
Valverde, P. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.10.1663 · Cited by 303 · see citing works
The genetic structure of admixed populations.
Long, J. C. (1991) · Genetics · doi:10.1093/genetics/127.2.417 · Cited by 293 · see citing works
Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation
Flanagan, N. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.17.2531 · Cited by 279 · see citing works
Pfaff, C., Parra, E., Bonilla, C., Hiester, K., McKeigue, P., Kamboh, M., Hutchinson, R., Ferrell, R., Boerwinkle, E., & Shriver, M. (2001) · American Journal of Human Genetics · doi:10.1086/316935 · Cited by 271 · see citing works
Self-citationEstimation of height from the length of long bones in a Portuguese adult population
de Mendonça, M. C. (2000) · American Journal of Physical Anthropology · doi:10.1002/(sici)1096-8644(200005)112:1 · Cited by 260 · see citing works
Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28
Taillon‐Miller, P., Bauer-Sardiña, I., Saccone, N. L., Putzel, J., Laitinen, T., Cao, A., Kere, J., Pilia, G., Rice, J. P., & Kwok, P. (2000) · Nature Genetics · doi:10.1038/77100 · Cited by 253 · see citing works
Melanocortin 1 Receptor Variants in an Irish Population
Smith, R., Healy, E., Siddiqui, S., Flanagan, N., Steijlen, P. M., Rosdahl, I. K., Jacques, J. P., Rogers, S., Turner, R., Jackson, I. J., et al. (1998) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.1998.00252.x · Cited by 249 · see citing works
Bastiaens, M. T., ter Huurne, J. A. C., Kielich, C. J., Gruis, N. A., Westendorp, R. G. J., Vermeer, B. J., & Bavinck, J. N. B. (2001) · The American Journal of Human Genetics · doi:10.1086/319500 · Cited by 248 · see citing works
The melanocortin-1-receptor gene is the major freckle gene
Bastiaens, M. T. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.16.1701 · Cited by 234 · see citing works
McKeigue, P. (1998) · The American Journal of Human Genetics · doi:10.1086/301908 · Cited by 231 · see citing works
Self-citationMcKeigue, P., Carpenter, J., Parra, E., & Shriver, M. (2000) · Annals of Human Genetics · doi:10.1046/j.1469-1809.2000.6420171.x · Cited by 230 · see citing works
Self-citationMapping by admixture linkage disequilibrium in human populations: limits and guidelines.
Stephens, J. C., Briscoe, D. A., & O’Brien, S. J. (1994) · PubMed Central · Cited by 223 · see citing works
Homologous pigmentation mutations in human, mouse and other model organisms
Jackson, I. J. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.10.1613 · Cited by 210 · see citing works
H. BRILLIANT, M. (2001) · Pigment Cell Research · doi:10.1034/j.1600-0749.2001.140203.x · Cited by 193 · see citing works
Eaves, I. A., Merriman, T. R., Barber, R. A., Nutland, S. L., Tuomilehto‐Wolf, E., Tuomilehto, J., Cucca, F., & Todd, J. A. (2000) · Nature Genetics · doi:10.1038/77091 · Cited by 192 · see citing works
A polymorphism in the agouti signaling protein gene is associated with human pigmentation.
Kanetsky, P., Swoyer, J., Panossian, S., Holmes, R., Guerry, D., & Rebbeck, T. (2002) · American Journal of Human Genetics · doi:10.1086/339076 · Cited by 192 · see citing works
Hanis, C. L., Chakraborty, R., Ferrell, R. E., & Schull, W. J. (1986) · American Journal of Physical Anthropology · doi:10.1002/ajpa.1330700404 · Cited by 177 · see citing works
Kittles, R., Chen, W., Panguluri, R. K., Ahaghotu, C., Jackson, A. G., Adebamowo, C., Griffin, R., Williams, T., Ukoli, F. A., Adams-Campbell, L., et al. (2002) · Human Genetics · doi:10.1007/s00439-002-0731-5 · Cited by 164 · see citing works
Self-citationSmith, M. W., Lautenberger, J., Shin, H., Chretien, J., Shrestha, S., Gilbert, D., & O'Brien, S. J. (2001) · American Journal of Human Genetics · doi:10.1086/323922 · Cited by 144 · see citing works
Melanocortin-1-receptor gene and sun sensitivity in individuals without red hair
Healy, E., Flannagan, N., Ray, A. J., Todd, C., Jackson, I. J., Matthews, J. N. S., Birch‐Machin, M. A., & Rees, J. L. (2000) · The Lancet · doi:10.1016/s0140-6736(00)02042-0 · Cited by 143 · see citing works
Ethnic-difference markers for use in mapping by admixture linkage disequilibrium.
Collins-Schramm, H. E., Phillips, C. M., Operario, D., Lee, J. S., Weber, J., Hanson, R., Knowler, W., Cooper, R., Li, H.-Z., & Seldin, M. (2002) · American Journal of Human Genetics · doi:10.1086/339368 · Cited by 135 · see citing works
Biological perspectives on human pigmentation
(1992) · Choice Reviews Online · doi:10.5860/choice.29-4590 · Cited by 128 · see citing works
Linkage disequilibrium in admixed populations: applications in gene mapping.
Briscoe, D., Stephens, J., & O'Brien, S. J. (1994) · Journal of Heredity · doi:10.1093/oxfordjournals.jhered.a111397 · Cited by 111 · see citing works
Biological Perspectives on Human Pigmentation
Robins, A. H. (1991) · doi:10.1017/cbo9780511600463 · Cited by 106 · see citing works
Melting curve analysis of SNPs (McSNP): a gel-free and inexpensive approach for SNP genotyping.
Akey, J., Sosnoski, D., Parra, E., Dios, S., Hiester, K., Su, B., Bonilla, C., Jin, L., & Shriver, M. (2001) · BioTechniques · doi:10.2144/01302tt05 · Cited by 106 · see citing works
Self-citationPolymorphic admixture typing in human ethnic populations.
Dean, M. C., Stephens, J. C., Winkler, C. A., Lomb, D. A., Ramsburg, M., Boaze, R., Stewart, C., Charbonneau, L., Goldman, D. A., & Albaugh, B. (1994) · PubMed Central · Cited by 90 · see citing works
Significant admixture linkage disequilibrium across 30 cM around the FY locus in African Americans.
Lautenberger, J., Stephens, J., O'Brien, S. J., & Smith, M. W. (2000) · American Journal of Human Genetics · doi:10.1086/302820 · Cited by 90 · see citing works
Extensive linkage disequilibrium in small human populations in Eurasia.
Kaessmann, H., Zöllner, S., Gustafsson, A., Wiebe, V., Laan, M., Lundeberg, J., Uhlén, M., & Pääbo, S. (2002) · American Journal of Human Genetics · doi:10.1086/339258 · Cited by 85 · see citing works
Wilson, J. F., & Goldstein, D. B. (2000) · American Journal of Human Genetics · doi:10.1086/303083 · Cited by 83 · see citing works
Skin Responses to Ultraviolet Radiation: Effects of Constitutive Pigmentation, Sex, and Ancestry
Wagner, J. K., Parra, E. J., Norton, H., Jovel, C., & Shriver, M. D. (2002) · Pigment Cell Research · doi:10.1034/j.1600-0749.2002.02046.x · Cited by 74 · see citing works
Self-citationAkey, J. M., Wang, H., Xiong, M., Wu, H., Liu, W., Shriver, M. D., & Jin, L. (2001) · Human Genetics · doi:10.1007/s004390100524 · Cited by 67 · see citing works
Self-citationYe, J., Parra, E., Sosnoski, D., Hiester, K., Underhill, P., & Shriver, M. (2002) · Journal of Forensic Sciences · doi:10.1520/jfs2001183 · Cited by 63 · see citing works
Self-citationQuantitative genetics of human skin color
Byard, P. J. (1981) · American Journal of Physical Anthropology · doi:10.1002/ajpa.1330240506 · Cited by 57 · see citing works
Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies and yeast
Spritz, R. A., & Spritz, R. A. (1999) · Trends in Genetics · doi:10.1016/s0168-9525(99)01785-0 · Cited by 44 · see citing works
Genetic Studies of the Human Melanocortin‐1 Receptor
Rees, J. L., Birch‐Machin, M. A., Flanagan, N., Healy, E., Phillips, S. R., & Todd, C. (1999) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1999.tb08670.x · Cited by 34 · see citing works
Adjusting for population structure in admixed populations
Pfaff, C., Kittles, R., & Shriver, M. (2002) · Genetic Epidemiology · doi:10.1002/gepi.0126 · Cited by 22 · see citing works
Self-citationSkin Reflectance in the Han Chinese and Tibetan Populations
Wu, H., Wang, H., Li, H., Akey, J., Xiao, F., Ke, Y., Xu, H., Xiao, J., Lu, D., Parra, E. J., et al. (2001) · Human Biology · doi:10.1353/hub.2001.0043 · Cited by 7 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Genetic determinants of hair, eye and skin pigmentation in Europeans
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., et al. (2007) · Nature Genetics · doi:10.1038/ng.2007.13 · Cited by 750 · see citing works
Algorithmic fairness in artificial intelligence for medicine and healthcare
Chen, R. J., Wang, J. J., Williamson, D. F. K., Chen, T. Y., Lipkova, J., Lu, M. Y., Sahai, S., & Mahmood, F. (2023) · Nature Biomedical Engineering · doi:10.1038/s41551-023-01056-8 · Cited by 750 · see citing works
Control of confounding of genetic associations in stratified populations
Hoggart, C. J., Parra, E. J., Shriver, M. D., Bonilla, C., Kittles, R. A., Clayton, D. G., & McKeigue, P. M. (2003) · The American Journal of Human Genetics · doi:10.1086/375613 · Cited by 490 · see citing works
Self-citationMersha, T. B., & Abebe, T. (2015) · Human Genomics · doi:10.1186/s40246-014-0023-x · Cited by 450 · see citing works
Genetic evidence for the convergent evolution of light skin in Europeans and East Asians
Norton, H. L., Kittles, R. A., Parra, E., McKeigue, P., Mao, X., Cheng, K., Canfield, V. A., Bradley, D. G., McEvoy, B., & Shriver, M. D. (2006) · Molecular Biology and Evolution · doi:10.1093/molbev/msl203 · Cited by 410 · see citing works
Self-citationMiller, C. T., Beleza, S., Pollen, A. A., Schluter, D., Kittles, R. A., Shriver, M. D., & Kingsley, D. M. (2007) · Cell · doi:10.1016/j.cell.2007.10.055 · Cited by 388 · see citing works
Self-citationA Genomewide Association Study of Skin Pigmentation in a South Asian Population
Stokowski, R. P., Pant, P. V. K., Dadd, T., Fereday, A., Hinds, D. A., Jarman, C., Filsell, W., Ginger, R. S., Green, M. R., van der Ouderaa, F. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522235 · Cited by 315 · see citing works
Del Bino, S., Duval, C., & Bernerd, F. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19092668 · Cited by 315 · see citing works
The changing racial and ethnic composition of the US population: Emerging American identities
Perez, A. D., & Hirschman, C. (2009) · Population and Development Review · doi:10.1111/j.1728-4457.2009.00260.x · Cited by 302 · see citing works
Halder, I., Shriver, M., Thomas, M., Fernandez, J. R., & Frudakis, T. (2008) · Human Mutation · doi:10.1002/humu.20695 · Cited by 274 · see citing works
Self-citationWilde, S., Timpson, A., Kirsanow, K., Kaiser, E., Kayser, M., Unterländer, M., Hollfelder, N., Potekhina, I. D., Schier, W., Thomas, M. G., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1316513111 · Cited by 257 · see citing works
Mechanisms of Skin Tanning in Different Racial/Ethnic Groups in Response to Ultraviolet Radiation
Tadokoro, T., Yamaguchi, Y., Batzer, J., Coelho, S. G., Zmudzka, B. Z., Miller, S. A., Wolber, R., Beer, J. Z., & Hearing, V. J. (2005) · Journal of Investigative Dermatology · doi:10.1111/j.0022-202x.2005.23760.x · Cited by 257 · see citing works
Lao, O., de Gruijter, J. M., van Duijn, K., Navarro, A., & Kayser, M. (2007) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2006.00341.x · Cited by 231 · see citing works
Duffy, D. L., Montgomery, G. W., Chen, W., Zhao, Z. Z., Le, L., James, M. R., Hayward, N. K., Martin, N. G., & Sturm, R. A. (2007) · The American Journal of Human Genetics · doi:10.1086/510885 · Cited by 240 · see citing works
Implications of correlations between skin color and genetic ancestry for biomedical research
Parra, E. J., Kittles, R. A., & Shriver, M. D. (2004) · Nature Genetics · doi:10.1038/ng1440 · Cited by 220 · see citing works
Self-citationHuman pigmentation variation: evolution, genetic basis, and implications for public health
Parra, E. J. (2007) · American Journal of Physical Anthropology · doi:10.1002/ajpa.20727 · Cited by 191 · see citing works
Self-citationGenetic Architecture of Skin and Eye Color in an African-European Admixed Population
Beleza, S., Johnson, N. A., Candille, S. I., Absher, D. M., Coram, M. A., Lopes, J., Campos, J., Araújo, I. I., Anderson, T. M., Vilhjálmsson, B. J., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003372 · Cited by 161 · see citing works
Self-citationGinger, R. S., Askew, S. E., Ogborne, R. M., Wilson, S., Ferdinando, D., Dadd, T., Smith, A. M., Kazi, S., Szerencsei, R. T., Winkfein, R. J., et al. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m707521200 · Cited by 158 · see citing works
Sequences associated with human iris pigmentation
Frudakis, T., Thomas, M., Gaskin, Z., Venkateswarlu, K., Chandra, K. S., Ginjupalli, S., Gunturi, S., Natrajan, S., Ponnuswamy, V. K., & Ponnuswamy, K. N. (2003) · Genetics · doi:10.1093/genetics/165.4.2071 · Cited by 153 · see citing works
McEvoy, B., Beleza, S., & Shriver, M. D. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl217 · Cited by 148 · see citing works
Self-citationJulian, C. G., Wilson, M. J., Lopez, M., Yamashiro, H., Tellez, W., Rodriguez, A., Bigham, A. W., Shriver, M. D., Rodriguez, C., Vargas, E., et al. (2009) · American Journal of Physiology-Regulatory, Integrative and Comparative Physiology · doi:10.1152/ajpregu.90945.2008 · Cited by 141 · see citing works
Self-citationEdwards, M., Bigham, A., Tan, J., Li, S., Gozdzik, A., Ross, K., Jin, L., & Parra, E. J. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000867 · Cited by 128 · see citing works
Self-citationBonilla, C., Boxill, L.-A., Donald, S. A. M., Williams, T., Sylvester, N., Parra, E. J., Dios, S., Norton, H. L., Shriver, M. D., & Kittles, R. A. (2005) · Human Genetics · doi:10.1007/s00439-004-1251-2 · Cited by 138 · see citing works
Self-citationInvestigating the case of human nose shape and climate adaptation
Zaidi, A. A., Mattern, B. C., Claes, P., McEcoy, B., Hughes, C., & Shriver, M. D. (2017) · PLOS Genetics · doi:10.1371/journal.pgen.1006616 · Cited by 117 · see citing works
Self-citationCandille, S. I., Absher, D. M., Beleza, S., Bauchet, M., McEvoy, B., Garrison, N. A., Li, J. Z., Myers, R. M., Barsh, G. S., Tang, H., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0048294 · Cited by 111 · see citing works
Self-citationWorldwide polymorphism at the MC1R locus and normal pigmentation variation in humans
Makova, K., & Norton, H. (2005) · Peptides · doi:10.1016/j.peptides.2004.12.032 · Cited by 101 · see citing works
Self-citationWilson, M. J., Lopez, M., Vargas, M., Julian, C., Tellez, W., Rodriguez, A., Bigham, A., Armaza, J. F., Niermeyer, S., Shriver, M., et al. (2007) · American Journal of Physiology-Regulatory, Integrative and Comparative Physiology · doi:10.1152/ajpregu.00806.2006 · Cited by 101 · see citing works
Self-citationZamudio, S., Postigo, L., Illsley, N. P., Rodriguez, C., Heredia, G., Brimacombe, M., Echalar, L., Torricos, T., Tellez, W., Maldonado, I., et al. (2007) · The Journal of Physiology · doi:10.1113/jphysiol.2007.130708 · Cited by 97 · see citing works
Measuring and using admixture to study the genetics of complex diseases
Halder, I., & Shriver, M. D. (2003) · Human Genomics · doi:10.1186/1479-7364-1-1-52 · Cited by 93 · see citing works
Self-citationAdmixture analysis of a rural population of the state of Guerrero, Mexico
Bonilla, C., Gutiérrez, G., Parra, E. J., Kline, C., & Shriver, M. D. (2005) · American Journal of Physical Anthropology · doi:10.1002/ajpa.20227 · Cited by 88 · see citing works
Self-citationSkin and hair pigmentation variation in Island Melanesia
Norton, H. L., Friedlaender, J. S., Merriwether, D. A., Koki, G., Mgone, C. S., & Shriver, M. D. (2006) · American Journal of Physical Anthropology · doi:10.1002/ajpa.20343 · Cited by 36 · see citing works
Self-citationDemographic and Sociocultural Predictors of Face Image Satisfaction: The U.S. Body Project I
Frederick, D. A., Reynolds, T. A., Barrera, C. A., & Murray, S. B. (2022) · Body Image · doi:10.1016/j.bodyim.2022.01.016 · Cited by 37 · see citing works
Norton, H. L., Edwards, M., Krithika, S., Johnson, M., Werren, E. A., & Parra, E. J. (2016) · American Journal of Physical Anthropology · doi:10.1002/ajpa.22861 · Cited by 30 · see citing works
Self-citationBose, A., Sengupta, M., Maitra, S., Bandyopadhyay, A. R., & Schaschl, H. (2026) · Frontiers in Genetics · doi:10.3389/fgene.2026.1870791 · Cited by 2 · see citing works
- Authors
- Shriver, M. D., Parra, E. J., Dios, S., Bonilla, C., Norton, H., Jovel, C., Pfaff, C., Jones, C., Massac, A., Cameron, N., Baron, A., Jackson, T., Argyropoulos, G., Jin, L., Hoggart, C. J., McKeigue, P. M., & Kittles, R. A.
- Affiliations
- Pennsylvania State University (US)
- Howard University (US)
- Pennington Biomedical Research Center (US)
- London School of Hygiene & Tropical Medicine (GB)
- Corresponding author
- Shriver, Mark D.
- ORCID
- Venue
- Human Genetics
- Published
- 2003-02-11
- Volume
- 112
- Issue
- 4
- Pages
- 387-399
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- OpenAlex
- W1480933312
- Cited by
- 549
- References
- 52
- Citations by year
- 2026: 4 · 2025: 13 · 2024: 11 · 2023: 13 · 2022: 14 · 2021: 15 · 2020: 15 · 2019: 21 · 2018: 16 · 2017: 19 · 2016: 17 · 2015: 27 · 2014: 31 · 2013: 19 · 2012: 23
- FWCI
- 16.03
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- LSHTM Research Online (London School of Hygiene and Tropical Medicine) (submittedVersion)
- Funders
- Pennsylvania State University
- National Institutes of Health (5r01mh060343-03)
- National Institute of Mental Health (MH 60343)
- National Human Genome Research Institute (R01HG002154, HG-002154)
- National Center for Research Resources (M01 RR10732, M01RR010732)
- NIH Clinical Center
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Race, Genetics, and Society
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Keywords
- skin pigmentation, ancestry informative markers, biogeographical ancestry, admixture mapping, African Americans, African Caribbeans, European Americans, population structure, TYR, OCA2, MC1R, reflectometry
- MeSH terms
- Africa, Black or African American, Carrier Proteins, Chromosome Mapping, Europe, United Kingdom, Humans, Membrane Proteins, Skin Pigmentation, Monophenol Monooxygenase, West Indies, Receptors, Corticotropin, Membrane Transport Proteins, Receptors, Melanocortin, Black People, White People
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
