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A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation
Open accessAbstract
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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In the citing paper
“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
In the citing paper
“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
In the citing paper
“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
In the citing paper
“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
In the citing paper
“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. C., Fry, B., Maller, J., & Daly, M. J. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bth457 · Cited by 14,563
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
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858
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
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 2,925
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 2,003
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
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
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
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
Self-citation
Research works printed but not linked: 2
- Lange, 2001, MENDEL version 4.0: a complete package for the exact genetic analysis of discrete traits in pedigree and population data sets, Am J Hum Genet Suppl, 69, A1886
- Dellavalle, 2005, Children with red hair have more freckles but fewer melanocytic nevi: results from a cohort study of 280 three-year-olds, Arch Dermatol, 141, 1042
Cited by
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Items 101–200 of 240
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Walsh, S., & Kayser, M. (2016) · Methods in molecular biology · doi:10.1007/978-1-4939-3597-0_17 · Cited by 28
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Fang, S., Lü, J., Zhou, X., Wang, Y., Ross, M. I., Gershenwald, J. E., Cormier, J. N., Wargo, J. A., Sui, D., Amos, C. I., et al. (2019) · Carcinogenesis · doi:10.1093/carcin/bgz173 · Cited by 24
Yang, C., Yang, J., Hao, R., Du, X., & Deng, Y. (2019) · Aquaculture · doi:10.1016/j.aquaculture.2019.734617 · Cited by 26
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Yuasa, I., Umetsu, K., Harihara, S., Miyoshi, A., Saitou, N., Park, K. S., Dashnyam, B., Jin, F., Lucotte, G., Chattopadhyay, P. K., et al. (2007) · Journal of Human Genetics · doi:10.1007/s10038-007-0167-9 · Cited by 25
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Shekar, S. N., Duffy, D. L., Frudakis, T. N., Sturm, R. A., Zhao, Z., Montgomery, G. W., & Martin, N. G. (2008) · Journal of Investigative Dermatology · doi:10.1038/jid.2008.147 · Cited by 24
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Rayner, J. E., Duffy, D. L., Smit, D. J., Jagirdar, K., Lee, K., De’Ambrosis, B., Smithers, B. M., McMeniman, E., McInerney-Leo, A. M., Schaider, H., et al. (2020) · PLoS ONE · doi:10.1371/journal.pone.0238529 · Cited by 23
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The convergent evolution of blue iris pigmentation in primates took distinct molecular paths
Meyer, W. K., Zhang, S., Hayakawa, S., Imai, H., & Przeworski, M. (2013) · American Journal of Physical Anthropology · doi:10.1002/ajpa.22280 · Cited by 19
Johanson, H. C., Chen, W., Wicking, C., & Sturm, R. A. (2009) · Journal of Human Genetics · doi:10.1038/jhg.2009.130 · Cited by 18
Self-citationMackey, D. A. (2021) · Eye · doi:10.1038/s41433-021-01749-x · Cited by 21
Lahola-Chomiak, A. A., & Walter, M. A. (2018) · Journal of Ophthalmology · doi:10.1155/2018/5926906 · Cited by 17
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Iida, R., Ueki, M., Takeshita, H., Fujihara, J., Nakajima, T., Kominato, Y., Nagao, M., & Yasuda, T. (2009) · Cell Biochemistry and Function · doi:10.1002/cbf.1572 · Cited by 17
Sexual selection and human geographic variation.
Fröst, P. (2008) · Journal of Social Evolutionary and Cultural Psychology · doi:10.1037/h0099346 · Cited by 17
Sengupta, M., Mondal, M., Jaiswal, P., Sinha, S., Chaki, M., Samanta, S., & Ray, K. (2010) · British Journal of Dermatology · doi:10.1111/j.1365-2133.2010.09830.x · Cited by 16
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Louhelainen, J., & Miller, D. J. (2019) · Journal of Forensic Sciences · doi:10.1111/1556-4029.14038 · Cited by 15
Efficient Detection and Characterization of Targets of Natural Selection Using Transfer Learning
Arnab, S. P., dos Santos, A. L. C., Fumagalli, M., & DeGiorgio, M. (2025) · Molecular Biology and Evolution · doi:10.1093/molbev/msaf094 · Cited by 14
Caliebe, A., Harder, M., Schuett, R., Krawczak, M., Nebel, A., & von Wurmb‐Schwark, N. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.167 · Cited by 14
Cadby, G., Ward, S. V., Cole, J. M., Moses, E. K., Millward, M., & Palmer, L. J. (2014) · British Journal of Dermatology · doi:10.1111/bjd.12829 · Cited by 14
Association of five SNPs with human hair colour in the Polish population
Siewierska-Górska, A., Sitek, A., Żądzińska, E., Bartosz, G., & Strapagiel, D. (2017) · HOMO · doi:10.1016/j.jchb.2017.02.002 · Cited by 13
Salvo, N. M., Andersen, J. D., Janssen, K., Meyer, O. S., Berg, T., Børsting, C., & Olsen, G. (2023) · Genes · doi:10.3390/genes14030698 · Cited by 12
Loftus, S. K., Lundh, L., Watkins‐Chow, D. E., Baxter, L. L., Pairo‐Castineira, E., Program, N. C. S., Jackson, I. J., Oetting, W. S., Pavan, W. J., & Adams, D. R. (2021) · Human Mutation · doi:10.1002/humu.24257 · Cited by 12
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Taher, L., Narlikar, L., & Ovcharenko, I. (2015) · Cold Spring Harbor Protocols · doi:10.1101/pdb.top083642 · Cited by 14
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Lai, C. (2012) · Progress in molecular biology and translational science · doi:10.1016/b978-0-12-398397-8.00018-6 · Cited by 10
Koirala, M., Shashikala, H. B. M., Jeffries, J., Wu, B., Loftus, S. K., Zippin, J. H., & Alexov, E. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22158273 · Cited by 10
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Li, Y., Li, W., Li, T., Qureshi, A. A., & Cho, E. (2021) · Cancer Causes & Control · doi:10.1007/s10552-021-01508-z · Cited by 10
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Khan, W. A., Knoll, J. H. M., & Rogan, P. K. (2011) · Molecular Cytogenetics · doi:10.1186/1755-8166-4-15 · Cited by 10
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Martínez‐Cadenas, C., Peña-Chilet, M., Llorca-Cardeñosa, M. J., Cervera, R., Ibarrola‐Villava, M., & Ribas, G. (2013) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2013.10.002 · Cited by 10
Brancato, D., Bruno, F., Coniglio, E., Sturiale, V., Saccone, S., & Federico, C. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25126602 · Cited by 9
Salmeri, N., Ottolina, J., Bartiromo, L., Schimberni, M., Dolci, C., Ferrari, S. M., Villanacci, R., Arena, S., Berlanda, N., Buggio, L., et al. (2022) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2022.05.001 · Cited by 10
Byrne, E. M., McRae, A. F., Zhao, Z., Martin, N. G., Montgomery, G. W., & Visscher, P. M. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.117 · Cited by 9
Self-citationJablonski, N. G. (2010) · Cambridge University Press eBooks · doi:10.1017/cbo9780511781193.016 · Cited by 10
Comparative molecular approaches in Prader–Willi syndrome diagnosis
Botezatu, A., Puiu, M., Cucu, N., Diaconu, C. C., Badiu, C., Arsene, C., Iancu, I. V., Plesa, A., & Anton, G. (2015) · Gene · doi:10.1016/j.gene.2015.08.058 · Cited by 8
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Lewis, R. A. (2012) · Europe PMC (PubMed Central) · Cited by 8
Lu, T. T., Lao, Ó., Nothnagel, M., Junge, O., Freitag‐Wolf, S., Caliebe, A., Balaščaková, M., Bertranpetit, J., Bindoff, L. A., Comas, D., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.266 · Cited by 8
Hohl, D. M., González, R., Meztler, G. P. D. S., Rico, J. P., Dejean, C. B., Avena, S. A., Gutiérrez, M. D. L. Á., & Catanesi, C. I. (2022) · Annals of Human Genetics · doi:10.1111/ahg.12480 · Cited by 7
SNPs for the analysis of human pigmentation genes—A comparative study
Zaumsegel, D., Rothschild, M. A., & Schneider, P. M. (2008) · Forensic science international. Genetics supplement series · doi:10.1016/j.fsigss.2007.11.016 · Cited by 7
Monogenic pigmentary skin disorders: genetics and pathophysiology.
Hershkovitz, D., & Sprecher, E. (2008) · PubMed · Cited by 7
Duffy, D. L. (2015) · Wiley eBooks · doi:10.1002/9780470015902.a0024646 · Cited by 7
Self-citationShould We Give Peas a Chance? An Argument for a Mendel-Free Biology Curriculum
Kampourakis, K. (2021) · Contributions from biology education research · doi:10.1007/978-3-030-86051-6_1 · Cited by 6
Prediction Model Validation: Normal Human Pigmentation Variation
Valenzuela, R. K., Ito, S., & Wakamatsu, K. (2011) · Journal of Forensic Research · doi:10.4172/2157-7145.1000139 · Cited by 5
Byrne, E. M., McRae, A. F., Duffy, D. L., Zhao, Z., Martin, N. G., Whitfield, J. B., Visscher, P. M., & Montgomery, G. W. (2009) · Diabetologia · doi:10.1007/s00125-009-1510-9 · Cited by 5
Self-citationDuan, B., Kang, T., Wan, H., Mu, S., Guan, Y., Liu, W., Li, Z., Tian, Y., Ren, Y., & Kang, X. (2023) · Aquaculture Reports · doi:10.1016/j.aqrep.2023.101792 · Cited by 4
Forsius, H. R., Eriksson, A. W., & Fellman, J. (2012) · International Journal of Circumpolar Health · doi:10.3402/ijch.v71i0.18186 · Cited by 4
Investigation of HERC2 and OCA2 SNP for iris color variation in puerto rican paso fino horses
Kowalski, E., & Bellone, R. R. (2011) · Journal of Equine Veterinary Science · doi:10.1016/j.jevs.2011.03.154 · Cited by 4
Ludwig, C. A., Callaway, N. F., Fredrick, D. R., Blumenkranz, M. S., & Moshfeghi, D. M. (2016) · Acta Ophthalmologica · doi:10.1111/aos.13006 · Cited by 4
Evaluation of the classification method using ancestry SNP markers for ethnic group
Lee, H., Hong, S. P., Lee, S. D., Rhee, H. S., Lee, J., Jeong, S. J., & Lee, J. W. (2019) · Communications for Statistical Applications and Methods · doi:10.29220/csam.2019.26.1.001 · Cited by 4
Bukayev, A., Gorin, I., Aidarov, B., Darmenov, A., Balanovska, E. V., & Zhabagin, M. K. (2024) · BMC Research Notes · doi:10.1186/s13104-024-06856-y · Cited by 3
Genotype–Phenotype Correlation Model for the Spectrum of TYR-Associated Albinism
Bjeloš, M., Ćurić, A., Bušić, M., Rak, B., & Elabjer, B. K. (2024) · Diagnostics · doi:10.3390/diagnostics14151583 · Cited by 3
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Behrens, L. M. P., Gonçalves, C. E. I., Fernandes, G. D. S., Boiani, M., Avila, E., Bicalho, M. D. G., Alho, C. S., & Dorn, M. (2025) · Forensic Science International · doi:10.1016/j.forsciint.2025.112593 · Cited by 3
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Becher, D., Jmel, H., Kheriji, N., Sarno, S., & Kéfi, R. (2023) · Forensic Science International · doi:10.1016/j.forsciint.2023.111906 · Cited by 3
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Cho, E., Hyung, K. E., Choi, Y.-H., Chun, H., Kim, D., Jun, S., & Kang, N. (2024) · Biomolecules · doi:10.3390/biom14101284 · Cited by 3
Genetic Analysis of the PI3K/AKT/mTOR Signaling Pathway
Hutz, J. (2010) · Open Scholarship Institutional Repository (Washington University in St. Louis) · doi:10.7936/k7rn35v1 · Cited by 3
Twin studies in inherited eye disease
Nag, A., & Hammond, C. J. (2013) · Clinical and Experimental Ophthalmology · doi:10.1111/ceo.12233 · Cited by 3
Kerr, R. A. (2008) · University of the Witwatersrand, Johannesburg Institutional Repository on DSpace (University of the Witwatersrand, Johannesburg) · Cited by 3
Prediction of Human Pigmentation Traits from DNA Polymorphisms
Branicki, W., & Kayser, M. (2015) · Wiley eBooks · doi:10.1002/9780470015902.a0023851 · Cited by 4
Dissecting dynamics and differences of selective pressures in the evolution of human pigmentationPreprint
Huang, X., He, Y., Wang, S., & Li, J. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/253963 · Cited by 3
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da Silva, L. D. F., Lima, A. S. B., Dall’Oglio, C. F., & Junior, R. J. H. (2021) · Revista Brasileira de Oftalmologia · doi:10.37039/1982.8551.20210050 · Cited by 2
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Haidar, M., Mousawi, F., & Al-Matrouk, A. K. (2024) · Elsevier eBooks · doi:10.1016/b978-0-323-99144-5.00014-7 · Cited by 3
Zaloga, A. R., DeYoung, C., Kurian, D. E., Card, K. R., Caudill, G. B., Zeiger, J. S., & Shields, C. L. (2024) · Asia-Pacific Journal of Ophthalmology · doi:10.1016/j.apjo.2023.100031 · Cited by 2
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Kumanov, P., Robeva, R. N., & Tomova, A. (2014) · Advances in Urology · doi:10.1155/2014/524570 · Cited by 2
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Metadata
- 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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