A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation
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We have previously shown that a quantitative-trait locus linked to the OCA2 region of 15q accounts for 74% of variation in human eye color. We conducted additional genotyping to clarify the role of the OCA2 locus in the inheritance of eye color and other pigmentary traits associated with skin-cancer risk in white populations. Fifty-eight synonymous and nonsynonymous exonic single-nucleotide polymorphisms (SNPs) and tagging SNPs were typed in a collection of 3,839 adolescent twins, their siblings, and their parents. The highest association for blue/nonblue eye color was found with three OCA2 SNPs: rs7495174 T/C, rs6497268 G/T, and rs11855019 T/C (P values of 1.02x10(-61), 1.57x10(-96), and 4.45x10(-54), respectively) in intron 1. These three SNPs are in one major haplotype block, with TGT representing 78.4% of alleles. The TGT/TGT diplotype found in 62.2% of samples was the major genotype seen to modify eye color, with a frequency of 0.905 in blue or green compared with only 0.095 in brown eye color. This genotype was also at highest frequency in subjects with light brown hair and was more frequent in fair and medium skin types, consistent with the TGT haplotype acting as a recessive modifier of lighter pigmentary phenotypes. Homozygotes for rs11855019 C/C were predominantly without freckles and had lower mole counts. The minor population impact of the nonsynonymous coding-region polymorphisms Arg305Trp and Arg419Gln associated with nonblue eyes and the tight linkage of the major TGT haplotype within the intron 1 of OCA2 with blue eye color and lighter hair and skin tones suggest that differences within the 5' proximal regulatory control region of the OCA2 gene alter expression or messenger RNA-transcript levels and may be responsible for these associations.
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Normal polymorphism of OCA2 is predominantly associated with eye color, although effects on skin and hair color have also been reported.
“Normal polymorphism of OCA2 appears to be predominantly associated with eye color, although effects on skin and hair color have also been reported”
From Analysis of Cultured Human Melanocytes Based on Polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P Loci (2009) · cites this paper as Duffy et al., 2007
Duffy et al. (2007) previously identified a three-SNP haplotype system (rs4778138, rs4778241, and rs7495174) associated with blue eyes.
“Duffy et al. (2007) previously identified a three-SNP haplotype system (rs4778138, rs4778241, and rs7495174) associated with blue eyes; for the purpose of this paper, we will refer to this system as BEH1, blue-eye associated haplotype #1.”
From A global view of the OCA2-HERC2 region and pigmentation (2012) · cites this paper as Duffy et al. 2007
Several sites in and around OCA2 have been reported to be the functional variant or tightly linked to the functional variant leading to blue eyes, including a three-SNP haplotype (rs4778138, rs4778241, rs7495174) and four individual SNPs, rs1129038, rs12913832, rs916977, and rs1667394.
“Several sites in and around OCA2 have been reported to be the functional variant or to be tightly linked to the functional variant leading to blue eyes. These sites include a three-SNP haplotype (rs4778138, rs4778241, rs7495174) and four individual SNPs, rs1129038, rs12913832, rs916977, and rs1667394 (Duffy et al. 2007; Sturm et al. 2008; Kayser et al. 2008; Sulem et al. 2007; Mengel-From et al. 2”
From A global view of the OCA2-HERC2 region and pigmentation (2012) · cites this paper as Duffy et al. 2007
OCA2 has been implicated in iris, skin, and hair pigmentation in humans.
“In humans, it has been implicated in iris, skin, and hair pigmentation (Duffy et al. 2007; Sturm et al. 2008; Kayser et al. 2008; Sulem et al. 2007).”
From A global view of the OCA2-HERC2 region and pigmentation (2012) · cites this paper as Duffy et al. 2007
The TG allele of BEH2 has a much more restricted global distribution compared to the ACA allele of BEH1 and the CA allele of BEH3, the other two haplotypes published as associated with blue eyes.
“We have shown that the TG allele of BEH2 has a much more restricted global distribution compared to the ACA allele of BEH1 and the CA allele of BEH3, the other two haplotypes published as associated with blue eyes”
From A global view of the OCA2-HERC2 region and pigmentation (2012) · cites this paper as Duffy et al. 2007
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Cites
Haploview: analysis and visualization of LD and haplotype maps
Barrett, J., Fry, B., Maller, J., & Daly, M. (2005) · Bioinform. · doi:10.1093/bioinformatics/bth457 · Cited by 15,086 · see citing works
The Structure of Haplotype Blocks in the Human Genome
Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., et al. (2002) · Science · doi:10.1126/science.1069424 · Cited by 5,863 · see citing works
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858 · see citing works
Unbiased Recursive Partitioning: A Conditional Inference Framework
Hothorn, T., Hornik, K., & Zeileis, A. (2006) · Journal of Computational and Graphical Statistics · doi:10.1198/106186006x133933 · Cited by 4,021 · see citing works
A Map of Recent Positive Selection in the Human Genome
Voight, B. F., Kudaravalli, S., Wen, X., & Pritchard, J. K. (2006) · PLoS Biology · doi:10.1371/journal.pbio.0040072 · Cited by 2,912 · see citing works
MatInspector and beyond: promoter analysis based on transcription factor binding sites
Cartharius, K., Frech, K., Grote, K., Klocke, B., Haltmeier, M., Klingenhoff, A., Frisch, M., Bayerlein, M., & Werner, T. (2005) · Computer applications in the biosciences · doi:10.1093/bioinformatics/bti473 · Cited by 1,962 · see citing works
The epidemiology of UV induced skin cancer
Armstrong, B. K., & Kricker, A. (2001) · Journal of Photochemistry and Photobiology B: Biology · doi:10.1016/s1011-1344(01)00198-1 · Cited by 1,811 · see citing works
Positive Natural Selection in the Human Lineage
Sabeti, P. C., Schaffner, S. F., Fry, B., Lohmueller, J., Varilly, P., Shamovsky, O., Palma, A., Mikkelsen, T. S., Altshuler, D., & Lander, E. S. (2006) · Science · doi:10.1126/science.1124309 · Cited by 1,157 · see citing works
Skin pigmentation, biogeographical ancestry and admixture mapping
Shriver, M. D., Parra, E. J., Dios, S., Bonilla, C., Norton, H., Jovel, C., Pfaff, C., Jones, C., Massac, A., Cameron, N., et al. (2003) · Human Genetics · doi:10.1007/s00439-002-0896-y · Cited by 549 · see citing works
Palmer, J. S., Duffy, D. L., Box, N. F., Aitken, J. F., O'Gorman, L. E., Green, A. C., Hayward, N. K., Martin, N. G., & Sturm, R. A. (2000) · The American Journal of Human Genetics · doi:10.1086/302711 · Cited by 503 · see citing works
Self-citationGenetics of hair and skin color
Rees, J. L. (2003) · Annual Review of Genetics · doi:10.1146/annurev.genet.37.110801.143233 · Cited by 485 · see citing works
Genomic insights into positive selection
Biswas, S., & Akey, J. M. (2006) · Trends in Genetics · doi:10.1016/j.tig.2006.06.005 · Cited by 471 · see citing works
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
Rinchik, E. M., Bultman, S. J., Horsthemke, B., Lee, S., Strunk, K. M., Spritz, R. A., Avidano, K. M., Jong, M. T. C., & Nicholls, R. D. (1993) · Nature · doi:10.1038/361072a0 · Cited by 413 · see citing works
Melanocortin‐1 receptor structure and functional regulation
García-Borrón, J. C., Sánchez‐Laorden, B. L., & Jiménez‐Cervantes, C. (2005) · Pigment Cell Research · doi:10.1111/j.1600-0749.2005.00278.x · Cited by 382 · see citing works
The Genetics of Sun Sensitivity in Humans
Rees, J. L. (2004) · The American Journal of Human Genetics · doi:10.1086/425285 · Cited by 288 · see citing works
Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects
Loeffen, J. L. C. M., Smeitink, J. A. M., Trijbels, J. M. F., Janssen, A. J. M., Triepels, R. H., Sengers, R. C. A., & van den Heuvel, L. P. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200002)15:2 · Cited by 287 · see citing works
Melanoma etiology: where are we?
Tucker, M. A., & Goldstein, A. M. (2003) · Oncogene · doi:10.1038/sj.onc.1206444 · Cited by 267 · see citing works
Cis-Acting Regulatory Variation in the Human Genome
Pastinen, T., & Hudson, T. J. (2004) · Science · doi:10.1126/science.1101659 · Cited by 265 · see citing works
Bliss, J. M., Ford, D., Swerdlow, A. J., Armstrong, B. K., Cristofolini, M., Elwood, J. M., Green, A. C., Holly, E. A., Mack, T. M., MacKie, R. M., et al. (1995) · International Journal of Cancer · doi:10.1002/ijc.2910620402 · Cited by 262 · see citing works
Interactive effects of MC1R and OCA2 on melanoma risk phenotypes
Duffy, D. L. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddh043 · Cited by 257 · see citing works
Self-citationZhu, G., Duffy, D. L., Eldridge, A., Grace, M., Mayne, C., O'Gorman, L. E., Aitken, J. F., Neale, M. C., Hayward, N. K., Green, A. C., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302494 · Cited by 237 · see citing works
Self-citationThe Mouse Pink-Eyed Dilution Gene: Association with Human Prader-Willi and Angelman Syndromes
Gardner, J. M., Nakatsu, Y., Gondo, Y., Lee, S., Lyon, M. F., King, R. A., & Brilliant, M. H. (1992) · Science · doi:10.1126/science.257.5073.1121 · Cited by 230 · see citing works
Lee, S., Nicholls, R. D., Bundey, S., Laxová, R., Musarella, M. A., & Spritz, R. A. (1994) · New England Journal of Medicine · doi:10.1056/nejm199402243300803 · Cited by 228 · see citing works
Skin colour and skin cancer –MC1R, the genetic link
Sturm, R. A. (2002) · Melanoma Research · doi:10.1097/00008390-200209000-00001 · Cited by 223 · see citing works
Self-citationLee, S.-T., Nicholls, R., Jong, M. T. C., Fukai, K., & Spritz, R. (1995) · Genomics · doi:10.1016/0888-7543(95)80220-g · Cited by 210 · see citing works
Eye colour: portals into pigmentation genes and ancestry
Sturm, R. A. (2004) · Trends in Genetics · doi:10.1016/j.tig.2004.06.010 · Cited by 199 · see citing works
Self-citationH. BRILLIANT, M. (2001) · Pigment Cell Research · doi:10.1034/j.1600-0749.2001.140203.x · Cited by 193 · see citing works
A Polymorphism in the Agouti Signaling Protein Gene Is Associated with Human Pigmentation
Kanetsky, P. A., Swoyer, J., Panossian, S., Holmes, R., Guerry, D., & Rebbeck, T. R. (2002) · The American Journal of Human Genetics · doi:10.1086/339076 · Cited by 183 · see citing works
MC1R and the response of melanocytes to ultraviolet radiation
Rouzaud, F., Kadekaro, A. L., Abdel-Malek, Z. A., & Hearing, V. J. (2005) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/j.mrfmmm.2004.09.014 · Cited by 173 · see citing works
Imesch, P. D., Wallow, I. H. L., & Albert, D. M. (1997) · Survey of Ophthalmology · doi:10.1016/s0039-6257(97)80018-5 · Cited by 163 · 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
Prota, G., Hu, D., Vincensi, M. R., McCormick, S. A., & Napolitano, A. (1998) · Experimental Eye Research · doi:10.1006/exer.1998.0518 · Cited by 124 · see citing works
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.
Ramsay, M., Colman, M. A., Stevens, G., Zwane, E., Kromberg, J. G. R., Farrall, M., & Jenkins, T. (1992) · PubMed · Cited by 121 · see citing works
Sviderskaya, E. V., Bennett, D. C., Ho, L., Tu, B., Lee, S.-T., & Spritz, R. A. (1997) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12285621 · Cited by 119 · see citing works
A Genome Scan for Eye Color in 502 Twin Families: Most Variation is due to a QTL on Chromosome 15q
Zhu, G., Evans, D. M., Duffy, D. L., Montgomery, G. W., Medland, S. E., Gillespie, N. A., Ewen, K. R., Jewell, M., Liew, Y., Hayward, N. K., et al. (2004) · Twin Research · doi:10.1375/twin.7.2.197 · Cited by 119 · see citing works
Self-citationThe Role of Melanocortin‐1 Receptor Polymorphism in Skin Cancer Risk Phenotypes
Sturm, R. A., Duffy, D. L., Box, N. F., Chen, W., Smit, D. J., Brown, D. L., Stow, J. L., Leonard, J. H., & Martin, N. G. (2003) · Pigment Cell Research · doi:10.1034/j.1600-0749.2003.00041.x · Cited by 116 · see citing works
Self-citationWilkerson, C. L. (1996) · Archives of Ophthalmology · doi:10.1001/archopht.1996.01100130433014 · Cited by 112 · see citing works
A golden age of human pigmentation genetics
STURM, R. (2006) · Trends in Genetics · doi:10.1016/j.tig.2006.06.010 · Cited by 106 · see citing works
Self-citationMelanin in human irides of different color and age of donors
Wielgus, A. R., & Sarna, T. (2005) · Pigment Cell Research · doi:10.1111/j.1600-0749.2005.00268.x · Cited by 101 · see citing works
Jannot, A., Meziani, R., Bertrand, G., Gérard, B., Descamps, V., Archimbaud, A., Picard‐Dahan, C., Ollivaud, L., Basset‐Séguin, N., Kérob, D., et al. (2005) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201415 · Cited by 100 · see citing works
P gene as an inherited biomarker of human eye color.
Rebbeck, T. R., Kanetsky, P. A., Walker, A. H., Holmes, R., Halpern, A. C., Schuchter, L. M., Elder, D. E., & Guerry, D. (2002) · PubMed · Cited by 96 · see citing works
Imesch, P. D. (1996) · Archives of Ophthalmology · doi:10.1001/archopht.1996.01100130439015 · Cited by 91 · see citing works
Duplication of 15q11.2-q14, including theP gene, in a woman with generalized skin hyperpigmentation
Akahoshi, K., Fukai, K., Kato, A., Kimiya, S., Kubota, T., & Spritz, R. A. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.10095 · Cited by 91 · see citing works
Akahoshi, K., Spritz, R. A., Fukai, K., Mitsui, N., Matsushima, K., & Ohashi, H. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20580 · Cited by 85 · see citing works
Eye Color Changes Past Early Childhood
Bito, L. Z. (1997) · Archives of Ophthalmology · doi:10.1001/archopht.1997.01100150661017 · Cited by 81 · see citing works
Davenport, G. C., & Davenport, C. B. (1907) · Science · doi:10.1126/science.26.670.589-b · Cited by 76 · see citing works
Eiberg, H., & Mohr, J. (1996) · European Journal of Human Genetics · doi:10.1159/000472205 · Cited by 71 · see citing works
Akey, 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
Suzuki, I., Kato, T., Motokawa, T., Katagiri, T., Tomita, Y., & Nakamura, E. (2002) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.2002.01647.x · Cited by 42 · see citing works
KRAS variation and risk of endometriosis
Zhao, Z., Nyholt, D. R., Le, L., Martin, N. G., James, M. R., Treloar, S. A., & Montgomery, G. W. (2006) · Molecular Human Reproduction · doi:10.1093/molehr/gal078 · Cited by 42 · see citing works
Self-citationA polymorphism in the agouti signalling protein (ASIP) is associated with decreased levels of mRNA
Voisey, J., Gómez‐Cabrera, M. C., Smit, D. J., Leonard, J. H., Sturm, R. A., & van Daal, A. (2006) · Pigment Cell Research · doi:10.1111/j.1600-0749.2006.00301.x · Cited by 40 · see citing works
Self-citationMajor genes of eye color and hair color linked to LU and SE
Elberg, H., & Mohr, J. (1987) · Clinical Genetics · doi:10.1111/j.1399-0004.1987.tb02793.x · Cited by 28 · see citing works
Replicated Linkage for Eye Color on 15q Using Comparative Ratings of Sibling Pairs
Danielle Posthuma, B., Visscher, P. M., Willemsen, G. A. H. M., Zhu, G., Martin, N. G., Slagboom, P. E., de Geus, E. J. C., & Boomsma, D. I. (2005) · Behavior Genetics · doi:10.1007/s10519-005-9007-x · Cited by 28 · see citing works
Self-citationIris melanocyte numbers in Asian, African American, and Caucasian irides.
Albert, D. M., Green, W. R., Zimbric, M. L., Lo, C., Gangnon, R. E., Kl, H., & Gleiser, J. (2003) · PubMed Central · Cited by 27 · see citing works
High frequency of the Ala481Thr mutation of the P gene in the Japanese population
Suzuki, T., Miyamura, Y., & Tomita, Y. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20044 · Cited by 24 · see citing works
Oetting, W. S., Gardner, J. M., Fryer, J. P., Ching, A., Durham‐Pierre, D., King, R. A., & Brilliant, M. H. (1998) · PubMed · doi:10.1002/(sici)1098-1004(1998)12:6 · Cited by 23 · see citing works
Dellavalle, R. P., Johnson, K. R., Hester, E. J., Deas, A. M., Mokrohisky, S. T., Morelli, J. G., & Crane, L. A. (2005) · Archives of Dermatology · doi:10.1001/archderm.141.8.1042 · Cited by 20 · see citing works
Phenotypic assortative mating in segregation analysis
Hasstedt, S. J. (1995) · Genetic Epidemiology · doi:10.1002/gepi.1370120202 · Cited by 19 · see citing works
P‐Locus Is a Target for the Melanogenic Effects of MC‐1R Signaling
Ancāns, J., Flanagan, N., Hoogduijn, M. J., & Thody, A. J. (2003) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2003.tb03202.x · Cited by 18 · see citing works
Austerlitz, F., & Heyer, É. (1999) · Genetic Epidemiology · doi:10.1002/(sici)1098-2272(1999)16:1 · Cited by 11 · see citing works
Self-citationNishimura, G., Harigaya, A., Kuwashima, M., & Kuwashima, S. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970711)71:1
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- McGregor B, Pfitzner J, Zhu G, Grace M, Eldridge A, Pearson J, Mayne C, Aitken JF, Green AC, Martin NG (1999) Genetic and environmental contributions to size, color, shape, and other characteristics of melanocytic naevi in a sample of ad- olescent twins. Genet Epidemiol 16:40-53
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A high-coverage genome sequence from an archaic denisovan individual
Meyer, M., Kircher, M., Gansauge, M.-T., Li, H., Racimo, F., Mallick, S., Schraiber, J. G., Jay, F., Prüfer, K., de Filippo, C., et al. (2012) · Science · doi:10.1126/science.1224344 · Cited by 1,967 · see citing works
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
Barrett, L. W., Fletcher, S., & Wilton, S. D. (2012) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-012-0990-9 · Cited by 603 · see citing works
Han, J., Kraft, P., Nan, H., Guo, Q., Chen, C., Qureshi, A., Hankinson, S. E., Hu, F. B., Duffy, D. L., Zhao, Z. Z., et al. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000074 · Cited by 499 · see citing works
Self-citationWeb-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits
Eriksson, N., Macpherson, J. M., Tung, J. Y., Hon, L., Naughton, B., Saxonov, S., Avey, L., Wojcicki, A., Pe’er, I., & Mountain, J. L. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000993 · Cited by 475 · see citing works
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Walsh, S., Liu, F., Wollstein, A., Kovatsi, L., Ralf, A., Kosiniak-Kamysz, A., Branicki, W., & Kayser, M. (2013) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2012.07.005 · Cited by 428 · see citing works
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Sturm, R. A., Duffy, D. L., Zhao, Z. Z., Leite, F. P. N., Stark, M. S., Hayward, N. K., Martin, N. G., & Montgomery, G. W. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.11.005 · Cited by 378 · see citing works
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Sturm, R. A. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp003 · Cited by 379 · see citing works
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Eiberg, H., Troelsen, J., Nielsen, M., Mikkelsen, A., Mengel-From, J., Kjaer, K. W., & Hansen, L. (2008) · Human Genetics · doi:10.1007/s00439-007-0460-x · Cited by 346 · see citing works
Chaitanya, L., Breslin, K., Zuñiga, S., Wirken, L., Pośpiech, E., Kukla-Bartoszek, M., Sijen, T., Knijff, P. D., Liu, F., Branicki, W., et al. (2018) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2018.04.004 · Cited by 335 · see citing works
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Self-citationKayser, M., Liu, F., Janssens, A. C. J. W., Rivadeneira, F., Lao, O., van Duijn, K., Vermeulen, M., Arp, P., Jhamai, M. M., van IJcken, W. F. J., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.10.003 · Cited by 260 · see citing works
Walsh, S., Chaitanya, L., Clarisse, L., Wirken, L., Draus-Barini, J., Kovatsi, L., Maeda, H., Ishikawa, T., Sijen, T., de Knijff, P., et al. (2014) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2013.12.006 · Cited by 240 · see citing works
Genetics of human iris colour and patterns
Sturm, R. A., & Larsson, M. (2009) · Pigment Cell & Melanoma Research · doi:10.1111/j.1755-148x.2009.00606.x · Cited by 239 · see citing works
Self-citationGenome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma
Law, M. H., Bishop, D. T., Lee, J. E., Brossard, M., Martin, N. G., Moses, E. K., Song, F., Barrett, J. H., Kumar, R., Easton, D. F., et al. (2015) · Nature Genetics · doi:10.1038/ng.3373 · Cited by 238 · see citing works
Self-citationGenetics of pigmentation in skin cancer — A review
Scherer, D., & Kumar, R. (2010) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2010.06.002 · Cited by 203 · see citing works
Human 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
Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci
Liu, F., Wollstein, A., Hysi, P. G., Ankra-Badu, G. A., Spector, T. D., Park, D., Zhu, G., Larsson, M., Duffy, D. L., Montgomery, G. W., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000934 · Cited by 191 · see citing works
Self-citationModel-based prediction of human hair color using DNA variants
Branicki, W., Liu, F., van Duijn, K., Draus‐Barini, J., Pośpiech, E., Walsh, S., Kupiec, T., Wojas‐Pelc, A., & Kayser, M. (2011) · Human Genetics · doi:10.1007/s00439-010-0939-8 · Cited by 188 · see citing works
Bellone, R. R., Brooks, S. A., Sandmeyer, L. S., Murphy, B. A., Forsyth, G. W., Archer, S., Bailey, E., & Grahn, B. H. (2008) · Genetics · doi:10.1534/genetics.108.088807 · Cited by 174 · see citing works
Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles
Beaumont, K. A., Shekar, S. N., Newton, R. A., James, M. R., Stow, J. L., Duffy, D. L., & Sturm, R. A. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm177 · Cited by 171 · see citing works
Self-citationGlobal skin colour prediction from DNA
Walsh, S., Chaitanya, L., Breslin, K., Muralidharan, C., Bronikowska, A., Pośpiech, E., Koller, J., Kovatsi, L., Wollstein, A., Branicki, W., et al. (2017) · Human Genetics · doi:10.1007/s00439-017-1808-5 · Cited by 159 · see citing works
Genetic 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
Further development of forensic eye color predictive tests
Ruíz, Y., Phillips, C., Gómez‐Tato, A., Álvarez‐Dios, J. A., de Cal, M. C., Cruz, R., Maroñas, O., Söchtig, J., Fondevila, M., Rodríguez‐Cid, M. J., et al. (2012) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2012.05.009 · Cited by 158 · see citing works
The Genetics of Human Skin and Hair Pigmentation.
Pavan, W., & Sturm, R. (2019) · Annual review of genomics and human genetics (Print) · doi:10.1146/annurev-genom-083118-015230 · Cited by 141 · see citing works
Self-citationAn Unexpectedly Complex Architecture for Skin Pigmentation in Africans
Martin, A. R., Lin, M., Granka, J. M., Myrick, J. W., Liu, X., Sockell, A., Atkinson, E. G., Werely, C. J., Möller, M., Sandhu, M. S., et al. (2017) · Cell · doi:10.1016/j.cell.2017.11.015 · Cited by 156 · see citing works
A Genome-Wide Analysis of Liberal and Conservative Political Attitudes
Hatemi, P., Gillespie, N. A., Eaves, L. J., Maher, B. S., Webb, B. T., Heath, A. C., Medland, S. E., Smyth, D. C., Beeby, H. N., Gordon, S. D., et al. (2011) · The Journal of Politics · doi:10.1017/s0022381610001015 · Cited by 146 · see citing works
Self-citationWakamatsu, K., Hu, D., McCormick, S. A., & Ito, S. (2007) · Pigment Cell & Melanoma Research · doi:10.1111/j.1755-148x.2007.00415.x · Cited by 144 · see citing works
Pybus, M., Dall’Olio, G. M., Luisi, P., Uzkudun, M., Torres, A. C., Pavlidis, P., Laayouni, H., Bertranpetit, J., & Engelken, J. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt1188 · Cited by 138 · see citing works
Predicting Phenotype from Genotype: Normal Pigmentation*
Valenzuela, R. K., Henderson, M., Walsh, M. H., Garrison, N. A., Kelch, J. T., Cohen‐Barak, O., Erickson, D. T., Meaney, F. J., Walsh, J. B., Cheng, K. C., et al. (2010) · Journal of Forensic Sciences · doi:10.1111/j.1556-4029.2009.01317.x · Cited by 132 · see citing works
A global view of the OCA2-HERC2 region and pigmentation
Donnelly, M. P., Paschou, P., Grigorenko, E., Gurwitz, D., Barta, C., Lu, R.-B., Zhukova, O. V., Kim, J.-J., Siniscalco, M., New, M., et al. (2012) · Human Genetics · doi:10.1007/s00439-011-1110-x · Cited by 131 · see citing works
Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis
Gerstenblith, M. R., Shi, J., & Landi, M. T. (2010) · Pigment Cell & Melanoma Research · doi:10.1111/j.1755-148x.2010.00730.x · Cited by 128 · see citing works
Genomewide association study for onset age in Parkinson disease
Latourelle, J. C., Pankratz, N., Dumitriu, A., Wilk, J. B., Goldwurm, S., Pezzoli, G., Mariani, C. B., DeStefano, A. L., Halter, C. A., Gusella, J. F., et al. (2009) · BMC Medical Genetics · doi:10.1186/1471-2350-10-98 · Cited by 124 · see citing works
Prediction of eye and skin color in diverse populations using seven SNPs
Spichenok, O., Budimlija, Z. M., Mitchell, A. A., Jenny, A., Kovacevic, L., Marjanovic, D., Caragine, T., Prinz, M., & Wurmbach, E. (2011) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2010.10.005 · Cited by 121 · see citing works
Cook, A. L., Chen, W., Thurber, A. E., Smit, D. J., Smith, A. G., Bladen, T. G., Brown, D. L., Duffy, D. L., Pastorino, L., Bianchi-Scarra, G., et al. (2009) · Journal of Investigative Dermatology · doi:10.1038/jid.2008.211 · Cited by 116 · see citing works
Self-citationGenotype–phenotype associations and human eye color
White, D., & Rabago-Smith, M. (2010) · Journal of Human Genetics · doi:10.1038/jhg.2010.126 · Cited by 109 · see citing works
Hanson, E., & Ballantyne, J. (2010) · PLoS ONE · doi:10.1371/journal.pone.0012830 · Cited by 110 · see citing works
Branicki, W., Brudnik, U., & Wojas‐Pelc, A. (2009) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2009.00504.x · Cited by 108 · see citing works
“freckle and mole number (Duffy et al., 2007), thus its involvement in pigmentation seems to be possible.”
BackgroundResultInfluentialFujimoto, A., Ohashi, J., Nishida, N., Miyagawa, T., Morishita, Y., Tsunoda, T., Kimura, R., & Tokunaga, K. (2008) · Human Genetics · doi:10.1007/s00439-008-0537-1 · Cited by 95 · see citing works
Human eye colour and HERC2, OCA2 and MATP
Mengel‐From, J., Børsting, C., Sánchez, J. J. M., Eiberg, H., & Morling, N. (2010) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2009.12.004 · Cited by 92 · see citing works
Olsen, C. M., Carroll, H. J., & Whiteman, D. C. (2010) · International Journal of Cancer · doi:10.1002/ijc.25243 · Cited by 89 · see citing works
Association of the SLC45A2 gene with physiological human hair colour variation
Branicki, W., Brudnik, U., Draus‐Barini, J., Kupiec, T., & Wojas‐Pelc, A. (2008) · Journal of Human Genetics · doi:10.1007/s10038-008-0338-3 · Cited by 86 · see citing works
CANDID: a flexible method for prioritizing candidate genes for complex human traits
Hutz, J., Kraja, A. T., McLeod, H. L., & Province, M. A. (2008) · Genetic Epidemiology · doi:10.1002/gepi.20346 · Cited by 81 · see citing works
Colorful DNA polymorphisms in humans
Liu, F., Wen, B., & Kayser, M. (2013) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2013.03.013 · Cited by 81 · see citing works
Weber, A., Briggs, W. H., Rucker, J., Baltazar, B. M., González, J. D. J. S., Feng, P., Buckler, E. S., & Doebley, J. (2008) · Genetics · doi:10.1534/genetics.108.090134 · Cited by 77 · see citing works
Multilocus OCA2 genotypes specify human iris colors
Frudakis, T., Terravainen, T., & Thomas, M. J. (2007) · Human Genetics · doi:10.1007/s00439-007-0401-8 · Cited by 67 · see citing works
Pigmentation‐related genes and their implication in malignant melanoma susceptibility
Fernández, L. P., Milne, R. L., Pita, G., Floristán, U., Sendagorta, E., Rodríguez, M. F., Avilés, J. A., Martín‐González, M., Lázaro, P., Benitez, J. J., et al. (2009) · Experimental Dermatology · doi:10.1111/j.1600-0625.2009.00846.x · Cited by 73 · see citing works
Genomic diversity and post-admixture adaptation in the Uyghurs
Pan, Y., Zhang, C., Lü, Y., Ning, Z., Lu, D., Gao, Y., Zhao, X., Yang, Y., Guan, Y., Mamatyusupu, D., et al. (2021) · National Science Review · doi:10.1093/nsr/nwab124 · Cited by 74 · see citing works
Gene–gene interactions contribute to eye colour variation in humans
Pośpiech, E., Draus‐Barini, J., Kupiec, T., Wojas‐Pelc, A., & Branicki, W. (2011) · Journal of Human Genetics · doi:10.1038/jhg.2011.38 · Cited by 71 · see citing works
Pośpiech, E., Wojas‐Pelc, A., Walsh, S., Liu, F., Maeda, H., Ishikawa, T., Skowron, M., Kayser, M., & Branicki, W. (2014) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2014.01.012 · Cited by 70 · see citing works
Identifying the Biological Basis of GWAS Hits for Endometriosis1
Fung, J. N., Rogers, P. A. W., & Montgomery, G. W. (2015) · Biology of Reproduction · doi:10.1095/biolreprod.114.126458 · Cited by 69 · see citing works
Self-citationVariants of theMATP/SLC45A2gene are protective for melanoma in the French population
Guedj, M., Bourillon, A., Combadière, C., Rodero, M. P., Dieudé, P., Descamps, V., Dupin, N., Wolkenstein, P., Aegerter, P., Lebbé, C., et al. (2008) · Human Mutation · doi:10.1002/humu.20823 · Cited by 67 · see citing works
Ocular Albinism and Hypopigmentation Defects in Slc24a5—I— Mice
Vogel, P., Read, R. W., Vance, R. B., Platt, K. A., Troughton, K., & Rice, D. S. (2008) · Veterinary Pathology · doi:10.1354/vp.45-2-264 · Cited by 63 · see citing works
Bouakaze, C., Keyser, C., Crubézy, É., Montagnon, D., & Ludes, B. (2009) · International Journal of Legal Medicine · doi:10.1007/s00414-009-0348-5 · Cited by 62 · see citing works
Detecting the Genetic Signature of Natural Selection in Human Populations: Models, Methods, and Data
Hancock, A. M., & Rienzo, A. D. (2008) · Annual Review of Anthropology · doi:10.1146/annurev.anthro.37.081407.085141 · Cited by 60 · see citing works
Don’t it make my blue eyes brown: heterochromia and other abnormalities of the iris
Rennie, I. G. (2011) · Eye · doi:10.1038/eye.2011.228 · Cited by 60 · see citing works
Prediction of eye color in the Slovenian population using the IrisPlex SNPs
Kastelic, V., Pośpiech, E., Draus‐Barini, J., Branicki, W., & Drobnič, K. (2013) · Croatian Medical Journal · doi:10.3325/cmj.2013.54.381 · Cited by 59 · see citing works
Andersen, J. D., Johansen, P., Harder, S., Christoffersen, S. R., Delgado, M. C., Henriksen, S. T., Nielsen, M. M. B., Sørensen, E., Ullum, H., Hansen, T. F., et al. (2013) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2013.05.003 · Cited by 58 · see citing works
Hider, J., Gittelman, R. M., Shah, T., Edwards, M., Rosenbloom, A., Akey, J. M., & Parra, E. J. (2013) · BMC Evolutionary Biology · doi:10.1186/1471-2148-13-150 · Cited by 55 · see citing works
Martínez‐Cadenas, C., Peña-Chilet, M., Ibarrola‐Villava, M., & Ribas, G. (2013) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2013.03.007 · Cited by 53 · see citing works
Rapid inexpensive genome-wide association using pooled whole bloodPreprint
Craig, J. E., Hewitt, A. W., McMellon, A. E., Henders, A. K., Ma, L., Wallace, L. M., Sharma, S., Burdon, K. P., Visscher, P. M., Montgomery, G. W., et al. (2009) · Genome Research · doi:10.1101/gr.094680.109 · Cited by 49 · see citing works
Self-citationExploration of SNP variants affecting hair colour prediction in Europeans
Söchtig, J., Phillips, C., Maroñas, O., Gómez‐Tato, A., Cruz, R., Álvarez‐Dios, J. A., de Cal, M. C., Ruíz, Y., Reich, K., Fondevila, M., et al. (2015) · International Journal of Legal Medicine · doi:10.1007/s00414-015-1226-y · Cited by 48 · see citing works
Pietroni, C., Andersen, J. D., Johansen, P., Andersen, M. M., Harder, S., Paulsen, R. R., Børsting, C., & Morling, N. (2014) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2014.02.002 · Cited by 49 · see citing works
Hawkes, J. E., Cassidy, P. B., Manga, P., Boissy, R. E., Goldgar, D. E., Cannon‐Albright, L., Florell, S. R., & Leachman, S. A. (2012) · Journal of Dermatological Science · doi:10.1016/j.jdermsci.2012.09.016 · Cited by 48 · see citing works
SNP model development for the prediction of eye colour in New Zealand
Allwood, J. S., & Harbison, S. (2013) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2013.03.005 · Cited by 46 · see citing works
Eye color predicts but does not directly influence perceived dominance in men
Kleisner, K., Kočnar, T., Rubešová, A., & Jaroslav Flegr, A. (2010) · Personality and Individual Differences · doi:10.1016/j.paid.2010.03.011 · Cited by 47 · see citing works
New insights into pigmentary pathways and skin cancer: Insights into pigmentation and cancer
Miller, A. J., & Tsao, H. (2010) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2009.09565.x · Cited by 46 · see citing works
Sarin, K. Y., Lin, Y., Daneshjou, R., Ziyatdinov, A., Þorleifsson, G., Rubin, A. J., Pardo, L. M., Wu, W., Khavari, P. A., Uitterlinden, A. G., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-14594-5 · Cited by 46 · see citing works
Joint Effect of Multiple Common SNPs Predicts Melanoma Susceptibility
Fang, S., Han, J., Zhang, M., Wang, L., Wei, Q., Amos, C. I., & Lee, J. E. (2013) · PLoS ONE · doi:10.1371/journal.pone.0085642 · Cited by 42 · see citing works
Importance of nonsynonymous OCA 2 variants in human eye color prediction
Andersen, J. D., Pietroni, C., Johansen, P., Andersen, M. M., Pereira, V., Børsting, C., & Morling, N. (2016) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.213 · Cited by 42 · see citing works
True colors: A literature review on the spatial distribution of eye and hair pigmentation
Katsara, M., & Nothnagel, M. (2019) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2019.01.001 · Cited by 42 · see citing works
Barón, A. E., Asdigian, N. L., Gonzalez, V., Aalborg, J., Terzian, T., Stiegmann, R. A., Torchia, E. C., Berwick, M., Dellavalle, R. P., Morelli, J. G., et al. (2014) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-14-0633 · Cited by 39 · see citing works
Bovet, J., Barthes, J., Durand, V., Michel Raymond, A., & Alvergne, A. (2012) · PLoS ONE · doi:10.1371/journal.pone.0049791 · Cited by 38 · see citing works
Single Nucleotide Polymorphisms and Applications
Butler, J. M. (2011) · Elsevier eBooks · doi:10.1016/b978-0-12-374513-2.00012-9 · Cited by 37 · see citing works
Prediction of Eye Color from Genetic Data Using Bayesian Approach*
Pośpiech, E., Draus‐Barini, J., Kupiec, T., Wojas‐Pelc, A., & Branicki, W. (2012) · Journal of Forensic Sciences · doi:10.1111/j.1556-4029.2012.02077.x · Cited by 36 · see citing works
funtrp: identifying protein positions for variation driven functional tuning
Miller, M., Vitale, D., Kahn, P. C., Rost, B., & Bromberg, Y. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz818 · Cited by 35 · see citing works
Chapter 4 The Melanocortin‐1 Receptor Gene Polymorphism and Association with Human Skin Cancer
Beaumont, K. A., Liu, Y. Y., & Sturm, R. A. (2009) · Progress in molecular biology and translational science · doi:10.1016/s1877-1173(09)88004-6 · Cited by 35 · see citing works
Self-citationGenetic variation in regulatory DNA elements: the case of OCA 2 transcriptional regulation
Visser, M., Kayser, M., Grosveld, F. G., & Palstra, R.-J. T. S. (2014) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12210 · Cited by 35 · see citing works
Association of Polymorphic Sites in the OCA2 Gene with Eye Colour Using the Tree Scanning Method
Branicki, W., Brudnik, U., Kupiec, T., Wolañska‐Nowak, P., Szczerbińska, A., & Wojas‐Pelc, A. (2007) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2007.00407.x · Cited by 34 · see citing works
Shekar, S. N., Duffy, D. L., Frudakis, T. N., Montgomery, G. W., James, M. R., Sturm, R. A., & Martin, N. G. (2007) · Photochemistry and Photobiology · doi:10.1111/j.1751-1097.2007.00237.x · Cited by 33 · see citing works
Self-citationEvolutionary genetics of skin pigmentation in African populations
Feng, Y., McQuillan, M. A., & Tishkoff, S. A. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab007 · Cited by 31 · see citing works
Batai, K., Cui, Z., Arora, A., Shah‐Williams, E., Hernandez, W., Ruden, M., Hollowell, C. M. P., Hooker, S. E., Bathina, M., Murphy, A. B., et al. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009319 · Cited by 35 · see citing works
Zaorska, K., Zawierucha, P., & Nowicki, M. O. (2019) · Human Genetics · doi:10.1007/s00439-019-02012-w · Cited by 29 · see citing works
Kastelic, V., & Drobnič, K. (2012) · Croatian Medical Journal · doi:10.3325/cmj.2012.53.401 · Cited by 31 · see citing works
Iris pigmented lesions as a marker of cutaneous melanoma risk: an Australian case-control study
Laino, A. M., Berry, E., Jagirdar, K., Lee, K., Duffy, D. L., Soyer, H. P., & Sturm, R. A. (2018) · British Journal of Dermatology · doi:10.1111/bjd.16323 · Cited by 30 · see citing works
Self-citationExternal visible characteristics prediction through SNPs analysis in the forensic setting: a review.
Tozzo, P., Politi, C., Delicati, A., Gabbin, A., & Caenazzo, L. (2021) · Frontiers in Bioscience · doi:10.52586/4991 · Cited by 25 · see citing works
Power and SNP tagging in whole mitochondrial genome association studiesPreprint
McRae, A. F., Byrne, E. M., Zhao, Z., Montgomery, G. W., & Visscher, P. M. (2008) · Genome Research · doi:10.1101/gr.074872.107 · Cited by 30 · see citing works
Self-citationMondal, M., Sengupta, M., Samanta, S., Sil, A., & Ray, K. (2012) · Gene · doi:10.1016/j.gene.2012.09.012 · Cited by 29 · see citing works
Lü, F., Yan, D., Zhou, X., Hu, D., & Qu, J. (2007) · PubMed · Cited by 29 · see citing works
Pośpiech, E., Karłowska-Pik, J., Ziemkiewicz, B., Kukla‐Bartoszek, M., Skowron, M., Wojas‐Pelc, A., & Branicki, W. (2016) · International Journal of Legal Medicine · doi:10.1007/s00414-016-1388-2 · Cited by 29 · see citing works
Wierenga, A. P. A., Brouwer, N. J., Gelmi, M. C., Verdijk, R. M., Stern, M., Baş, Z., Malkani, K. V., van Duinen, S. G., Ganguly, A. A., Kroes, W. G. M., et al. (2021) · Ophthalmology · doi:10.1016/j.ophtha.2021.11.011 · Cited by 28 · see citing works
Technical note: Quantitative measures of iris color using high resolution photographs
Edwards, M., Gozdzik, A., Ross, K., Miles, J. W., & Parra, E. J. (2011) · American Journal of Physical Anthropology · doi:10.1002/ajpa.21637 · Cited by 28 · see citing works
Meyer, W. K., Venkat, A., Kermany, A. R., van de Geijn, B., Zhang, S., & Przeworski, M. (2015) · Molecular Ecology · doi:10.1111/mec.13327 · Cited by 27 · see citing works
Current Status of the Use of Single-Nucleotide Polymorphisms in Forensic Practices
Cantürk, K. M., Emre, R., Kınoğlu, K., Başpınar, B., Şahin, F., & Özen, M. (2014) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2013.0466 · Cited by 28 · see citing works
- Authors
- 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.
- Affiliations
- QIMR Berghofer Medical Research Institute (AU)
- The University of Queensland (AU)
- Corresponding author
- Sturm, Richard A.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2007-02
- Volume
- 80
- Issue
- 2
- Pages
- 241-252
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1785344
- OpenAlex
- W2014370194
- Cited by
- 240
- References
- 64
- Citations by year
- 2026: 2 · 2025: 7 · 2024: 14 · 2023: 8 · 2022: 8 · 2021: 15 · 2020: 12 · 2019: 8 · 2018: 8 · 2017: 5 · 2016: 8 · 2015: 10 · 2014: 10 · 2013: 15 · 2012: 15
- FWCI
- 11.17
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Medical Research Council
- Australian Research Council (241944, 389875)
- National Health and Medical Research Council (301173, 241944, 389875)
- National Cancer Institute (R01CA088363, CA88363)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Keywords
- OCA2, eye color, single nucleotide polymorphisms, haplotypes, intron 1, skin pigmentation, hair color, freckles, skin cancer risk, quantitative trait loci
- MeSH terms
- Adolescent, Child, Chromosomes, Human, Pair 15, Eye Color, Female, Genotype, Hair Color, Haplotypes, Humans, Introns, Male, Melanosis, Nevus, Pigmented, Skin Pigmentation, Twins, Polymorphism, Single Nucleotide, Membrane Transport Proteins
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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 ›
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