The DOI matches its Crossref record; 47 of the 49 references it cites were found in a registry or an index.
Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene
Open accessAbstract
Human iris color was one of the first traits for which Mendelian segregation was established. To date, the genetics of iris color is still not fully understood and is of interest, particularly in view of forensic applications. In three independent genome-wide association (GWA) studies of a total of 1406 persons and a genome-wide linkage study of 1292 relatives, all from the Netherlands, we found that the 15q13.1 region is the predominant region involved in human iris color. There were no other regions showing consistent genome-wide evidence for association and linkage to iris color. Single nucleotide polymorphisms (SNPs) in the HERC2 gene and, to a lesser extent, in the neighboring OCA2 gene were independently associated to iris color variation. OCA2 has been implicated in iris color previously. A replication study within two populations confirmed that the HERC2 gene is a new and significant determinant of human iris color variation, in addition to OCA2. Furthermore, HERC2 rs916977 showed a clinal allele distribution across 23 European populations, which was significantly correlated to iris color variation. We suggest that genetic variants regulating expression of the OCA2 gene exist in the HERC2 gene or, alternatively, within the 11.7 kb of sequence between OCA2 and HERC2, and that most iris color variation in Europeans is explained by those two genes. Testing markers in the HERC2-OCA2 region may be useful in forensic applications to predict eye color phenotypes of unknown persons of European genetic origin.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
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?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“This eye color locus was later refined to a small region 50 kb upstream of OCA2 in an intron of the HERC2 gene [7], [8], [10].”
From Genetic Architecture of Skin and Eye Color in an African-European Admixed Population (2013) · cites this paper as [7]
Experimental — accuracy not yet measuredIn 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 Kayser et al. 2008
In the citing paper
“Two other SNPs, rs916977 and rs1667394, have previously been associated with blue eyes (Kayser et al. 2008; Sulem et al. 2007).”
From A global view of the OCA2-HERC2 region and pigmentation (2012) · cites this paper as Kayser et al. 2008
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 Kayser et al. 2008
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 Kayser et al. 2008
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089
The meaning and use of the area under a receiver operating characteristic (ROC) curve.
Hanley, J. A., & McNeil, B. J. (1982) · Radiology · doi:10.1148/radiology.143.1.7063747 · Cited by 21,856
A simple salting out procedure for extracting DNA from human nucleated cells
Miller, S. A., Dykes, D. D., & Polesky, H. F. (1988) · Nucleic Acids Research · doi:10.1093/nar/16.3.1215 · Cited by 20,341
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
Population Structure and Eigenanalysis
Patterson, N., Price, A. L., & Reich, D. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020190 · Cited by 5,280
The History and Geography of Human Genes
Cavalli-Sforza, L. L., Menozzi, P., & Piazza, A. (2018) · Princeton University Press eBooks · doi:10.2307/j.ctv301gjp · Cited by 3,175
Genomic Control for Association Studies
Devlin, B., & Roeder, K. (1999) · Biometrics · doi:10.1111/j.0006-341x.1999.00997.x · Cited by 3,162
Multipoint Quantitative-Trait Linkage Analysis in General Pedigrees
Almasy, L. A., & Blangero, J. (1998) · The American Journal of Human Genetics · doi:10.1086/301844 · Cited by 3,021
GenABEL: an R library for genome-wide association analysis
Aulchenko, Y. S., Ripke, S., Isaacs, A., & van Duijn, C. M. (2007) · Bioinformatics · doi:10.1093/bioinformatics/btm108 · Cited by 1,836
Self-citationScore Tests for Association between Traits and Haplotypes when Linkage Phase Is Ambiguous
Schaid, D. J., Rowland, C. M., Tines, D. E., Jacobson, R. M., & Poland, G. A. (2002) · The American Journal of Human Genetics · doi:10.1086/338688 · Cited by 1,777
Cited by
Sorted by citations
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Taliun, D., Harris, D. N., Kessler, M. D., Carlson, J., Szpiech, Z. A., Torres, R., Taliun, S. A. G., Corvelo, A., Gogarten, S. M., Kang, H. M., et al. (2021) · Nature · doi:10.1038/s41586-021-03205-y · Cited by 2,213
Population differentiation as a test for selective sweepsPreprint
Chen, H., Patterson, N. J., & Reich, D. (2010) · Genome Research · doi:10.1101/gr.100545.109 · Cited by 916
Improving human forensics through advances in genetics, genomics and molecular biology
Kayser, M., & de Knijff, P. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2952 · Cited by 538
Self-citationCorrelation between Genetic and Geographic Structure in Europe
Lao, O., Lu, T. T., Nothnagel, M., Junge, O., Freitag-Wolf, S., Caliebe, A., Balascakova, M., Bertranpetit, J., Bindoff, L. A., Comas, D., et al. (2008) · Current Biology · doi:10.1016/j.cub.2008.07.049 · Cited by 503
Self-citationKayser, M. (2015) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2015.02.003 · Cited by 475
Self-citationThe HIrisPlex system for simultaneous prediction of hair and eye colour from DNA
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
Self-citationWalsh, S., Liu, F., Ballantyne, K., van Oven, M., Lao, O., & Kayser, M. (2011) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2010.02.004 · Cited by 372
Self-citationMolecular genetics of human pigmentation diversity
Sturm, R. A. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp003 · Cited by 379
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo
Jin, Y., Birlea, S. A., Fain, P. R., Ferrara, T. M., Ben, S., Riccardi, S. L., Cole, J. B., Gowan, K., Holland, P. J., Bennett, D. C., et al. (2012) · Nature Genetics · doi:10.1038/ng.2272 · Cited by 357
Loci associated with skin pigmentation identified in African populations
Crawford, N. G., Kelly, D. E., Hansen, M. E. B., Beltrame, M. H., Fan, S., Bowman, S. L., Jewett, E., Ranciaro, A., Thompson, S., Lo, Y., et al. (2017) · Science · doi:10.1126/science.aan8433 · Cited by 321
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
Self-citationA Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans
Liu, F., van der Lijn, F., Schurmann, C., Zhu, G., Chakravarty, M. M., Hysi, P. G., Wollstein, A., Lao, O., de Bruijne, M., Ikram, M. A., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002932 · Cited by 326
Self-citationEye color and the prediction of complex phenotypes from genotypes.
Liu, F., van Duijn, K., Vingerling, J., Hofman, A., Uitterlinden, A., Janssens, A. C., & Kayser, M. (2009) · Current Biology · doi:10.1016/j.cub.2009.01.027 · Cited by 285
Self-citationKayser, M., & Schneider, P. M. (2009) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2009.01.012 · Cited by 287
Self-citationWalsh, 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
Self-citationGenetics 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
Duffy, D. L., Zhao, Z., Sturm, R. A., Hayward, N. K., Martin, N. G., & Montgomery, G. W. (2009) · Journal of Investigative Dermatology · doi:10.1038/jid.2009.258 · Cited by 206
Genetics 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 207
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
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
Self-citationGenomic and geographic distribution of SNP-defined runs of homozygosity in Europeans
出口, 保., Lu, T. T., Kayser, M., & Krawczak, M. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq198 · Cited by 194
Self-citationCurrent genetic methodologies in the identification of disaster victims and in forensic analysis
Ziętkiewicz, E., Witt, M. M., Daca‐Roszak, P., Żebracka‐Gala, J., Goniewicz, M., Jarząb, B., & Witt, M. (2011) · Journal of Applied Genetics · doi:10.1007/s13353-011-0068-7 · Cited by 174
Global 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 168
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
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
Heath, S. C., Gut, I. G., Brennan, P., McKay, J., Bencko, V., Fabiánová, E., Foretová, L., Georges, M., Janout, V., Kabesch, M., et al. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.210 · Cited by 161
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
DNA-based eye colour prediction across Europe with the IrisPlex system
Walsh, S., Wollstein, A., Liu, F., Chakravarthy, U., Rahu, M., Seland, J. H., Soubrane, G., Tomazzoli, L., Topouzis, F., Vingerling, J. R., et al. (2011) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2011.07.009 · Cited by 154
Self-citationPopulation structure, migration, and diversifying selection in the Netherlands
Abdellaoui, A., Hottenga, J., de Knijff, P., Nivard, M. G., Xiao, X., Scheet, P. A., Brooks, A. I., Ehli, E. A., Hu, Y., Davies, G. E., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.48 · Cited by 154
SNP genotyping: six technologies that keyed a revolution
Perkel, J. M. (2008) · Nature Methods · doi:10.1038/nmeth0508-447 · Cited by 152
Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability
Morgan, M. D., Pairo‐Castineira, E., Rawlik, K., Canela‐Xandri, O., Rees, J., Sims, D., Tenesa, A., & Jackson, I. J. (2018) · Nature Communications · doi:10.1038/s41467-018-07691-z · Cited by 139
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
The RCC1 superfamily: From genes, to function, to disease
Hadjebi, O., Casas‐Terradellas, E., García-Gonzalo, F. R., & Rosa, J. L. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2008.03.015 · Cited by 133
SILENT WITNESS, ARTICULATE COLLECTIVE: DNA EVIDENCE AND THE INFERENCE OF VISIBLE TRAITS
M’Charek, A. A. (2008) · Bioethics · doi:10.1111/j.1467-8519.2008.00699.x · Cited by 132
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
Jacobs, L. C., Hamer, M. A., Gunn, D. A., Deelen, J., Lall, J. S., van Heemst, D., Uh, H., Albert Hofman, D., Uitterlinden, A. G., Griffiths, C. E. M., et al. (2015) · Journal of Investigative Dermatology · doi:10.1038/jid.2015.62 · Cited by 131
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
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
Predicting human height by Victorian and genomic methods
Aulchenko, Y. S., Struchalin, M. V., Belonogova, N. M., Axenovich, T. I., Weedon, M. N., Albert Hofman, D., Uitterlinden, A. G., Kayser, M., Oostra, B. A., van Duijn, C. M., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.5 · Cited by 126
Self-citationCRISPR mutagenesis confirms the role of oca2 in melanin pigmentation in Astyanax mexicanus
Klaassen, H., Wang, Y., Adamski, K., Rohner, N., & Kowalko, J. E. (2018) · Developmental Biology · doi:10.1016/j.ydbio.2018.03.014 · Cited by 119
Predicting the effects of frameshifting indels
Hu, J., & Ng, P. C. (2012) · Genome biology · doi:10.1186/gb-2012-13-2-r9 · Cited by 126
SLC45A2: a novel malignant melanoma-associated gene
Fernández, L. P., Milne, R. L., Pita, G., Avilés, J. A., Lázaro, P., Benitez, J. J., & Ribas, G. (2008) · Human Mutation · doi:10.1002/humu.20804 · Cited by 115
GenNet framework: interpretable deep learning for predicting phenotypes from genetic data
van Hilten, A., Kushner, S. A., Kayser, M., Ikram, M. A., Adams, H. H. H., Klaver, C. C. W., Niessen, W. J., & Roshchupkin, G. V. (2021) · Communications Biology · doi:10.1038/s42003-021-02622-z · Cited by 125
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
Genotype–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
Interactions Between HERC2, OCA2 and MC1R May Influence Human Pigmentation Phenotype
Branicki, W., Brudnik, U., & Wojas‐Pelc, A. (2009) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2009.00504.x · Cited by 108
“…OCA2 26017833 1.00000 Duffy et al., 2007 0.0528 T C rs12913832 HERC2 26039213 0.88406 Sturm et al., 2008 0.2281 T C rs916977 HERC2 26186959 0.84149 Kayser et al., 2008 0.1482 a – formerly rs11855019; b – formerly rs6497268; MAF – minor allele frequency; HWE – Hardy-Weinberg equilibrium. for…”
BackgroundResultInfluentialDevelopment of a forensic skin colour predictive test
Maroñas, O., Phillips, C., Söchtig, J., Gómez‐Tato, A., Cruz, R., Álvarez‐Dios, J. A., de Cal, M. C., Ruíz, Y., Fondevila, M., Carracedo, Á., et al. (2014) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2014.06.017 · Cited by 108
Intrinsic and Extrinsic Risk Factors for Sagging Eyelids
Jacobs, L. C., Liu, F., Bleyen, I., Gunn, D. A., Albert Hofman, D., Klaver, C. C. W., Uitterlinden, A. G., Neumann, H. A. M., Bataille, V. A., Spector, T. D., et al. (2014) · JAMA Dermatology · doi:10.1001/jamadermatol.2014.27 · Cited by 102
Self-citationNovel genetic loci affecting facial shape variation in humans
Xiong, Z., Dankova, G., Howe, L. J., Lee, M. K., Hysi, P. G., de Jong, M. A., Zhu, G., Adhikari, K., Li, D., Li, Y., et al. (2019) · eLife · doi:10.7554/elife.49898 · Cited by 92
Self-citationJacobs, L. C., Wollstein, A., Lao, O., Hofman, A., Klaver, C. C., Uitterlinden, A. G., Nijsten, T., Kayser, M., & Liu, F. (2013) · Human Genetics · doi:10.1007/s00439-012-1232-9 · Cited by 99
Self-citationMITF in Normal Melanocytes, Cutaneous and Uveal Melanoma: A Delicate Balance
Gelmi, M. C., Houtzagers, L. E., Strub, T., Krossa, I., & Jager, M. J. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23116001 · Cited by 115
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
Hong, H., Su, Z., Ge, W., Shi, L. M., Perkins, R., Fang, H., Xu, J., Chen, J. J., Han, T., Kaput, J., et al. (2008) · BMC Bioinformatics · doi:10.1186/1471-2105-9-s9-s17 · Cited by 89
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
Genetic determinants of hair and eye colours in the Scottish and Danish populations
Mengel‐From, J., Wong, T. H., Morling, N., Rees, J. L., & Jackson, I. J. (2009) · BMC Genetics · doi:10.1186/1471-2156-10-88 · Cited by 83
Simcoe, M. J., Valdes, A. M., Liu, F., Furlotte, N. A., Evans, D. M., Hemani, G., Ring, S. M., Smith, G. D., Duffy, D. L., Zhu, G., et al. (2021) · Science Advances · doi:10.1126/sciadv.abd1239 · Cited by 92
Self-citationDraus‐Barini, J., Walsh, S., Pośpiech, E., Kupiec, T., Głąb, H., Branicki, W., & Kayser, M. (2013) · Investigative Genetics · doi:10.1186/2041-2223-4-3 · Cited by 87
Self-citationCurrent aspects of vitiligo genetics
Czajkowski, R., & Męcińska‐Jundziłł, K. (2014) · Advances in Dermatology and Allergology · doi:10.5114/pdia.2014.43497 · Cited by 85
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 89
Self-citationToward DNA-based facial composites: Preliminary results and validation
Claes, P. D., Hill, H. C. H., & Shriver, M. D. (2014) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2014.08.008 · Cited by 79
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
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
Liu, F., Chen, Y., Zhu, G., Hysi, P. G., Wu, S., Adhikari, K., Breslin, K., Pośpiech, E., Hamer, M. A., Peng, F., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx416 · Cited by 77
Self-citationPośpiech, 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
Self-citationMashimo, T., Hadjebi, O., Amair‐Pinedo, F., Tsurumi, T., Vives, F. L., Serikawa, T., Sotelo, C., Guénet, J., & Rosa, J. L. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000784 · Cited by 69
Variants 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
Shah, R. L., & Guggenheim, J. A. (2018) · Human Genetics · doi:10.1007/s00439-018-1942-8 · Cited by 68
Li, M., Tiirikka, T., & Kantanen, J. (2013) · Heredity · doi:10.1038/hdy.2013.83 · Cited by 66
Genetic Polymorphisms in Sepsis
Namath, A., & Patterson, A. J. (2009) · Critical Care Clinics · doi:10.1016/j.ccc.2009.06.004 · Cited by 64
Identification of a common variant at the NOS1AP locus strongly associated to QT-interval duration
Eijgelsheim, M., Aarnoudse, A. L. H. J., Rivadeneira, F., Kors, J. A., Witteman, J. C. M., Hofman, A., van Duijn, C. M., Uitterlinden, A. G., & Stricker, B. H. C. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn341 · Cited by 65
Self-citationShades of complexity: New perspectives on the evolution and genetic architecture of human skin
Quillen, E. E., Norton, H. L., Parra, E. J., Lona‐Durazo, F., Ang, K. C., Illiescu, F. M., Pearson, L. N., Shriver, M. D., Lasisi, T., Gokcumen, O., et al. (2019) · American Journal of Physical Anthropology · doi:10.1002/ajpa.23737 · Cited by 67
Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis
Dittwald, P., Gambin, T., Gonzaga-Jauregui, C. G., Carvalho, C. M. B., Lupski, J. R., Stankiewicz, P., & Gambin, A. (2012) · Human Mutation · doi:10.1002/humu.22217 · Cited by 58
Panagiotou, O. A., Εvangelou, Ε., & Ioannidis, J. P. A. (2010) · American Journal of Epidemiology · doi:10.1093/aje/kwq234 · Cited by 59
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
Gene Flow and Natural Selection in Oceanic Human Populations Inferred from Genome-Wide SNP Typing
Kimura, R., Ohashi, J., Matsumura, Y., Nakazawa, M., Inaoka, T., Ohtsuka, R., Osawa, M., & Tokunaga, K. (2008) · Molecular Biology and Evolution · doi:10.1093/molbev/msn128 · Cited by 54
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 56
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 56
IRF4, MC1R and TYR genes are risk factors for actinic keratosis independent of skin color
Jacobs, L. C., Liu, F., Pardo, L. M., Albert Hofman, D., Uitterlinden, A. G., Kayser, M., & Nijsten, T. E. C. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv076 · Cited by 55
Self-citationLinking genotypes, phenotypes, and fitness in wild primate populations
Bradley, B. J., & Lawler, R. R. (2011) · Evolutionary Anthropology Issues News and Reviews · doi:10.1002/evan.20306 · Cited by 54
FitzGerald, L. M., Kwon, E. M., Conomos, M. P., Kolb, S., Holt, S. K., Levine, D., Feng, Z., Ostrander, E. A., & Stanford, J. L. (2011) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-10-1299 · Cited by 52
Exploration 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
Azzato, E. M., Tyrer, J. P., Fasching, P. A., Beckmann, M. W., Ekici, A. B., Schulz‐Wendtland, R., Bojesen, S. E., Nordestgaard, B. G., Flyger, H., Milne, R. L., et al. (2010) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djq057 · Cited by 47
Edwards, M., Cha, D., Krithika, S., Johnson, M., Cook, G. R., & Parra, E. J. (2015) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12435 · Cited by 47
Iris phenotypes and pigment dispersion caused by genes influencing pigmentation
Anderson, M. G., Hawes, N. L., Trantow, C. M., Chang, B., & John, S. W. M. (2008) · Pigment Cell & Melanoma Research · doi:10.1111/j.1755-148x.2008.00482.x · Cited by 48
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
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
Genetic markers of pigmentation are novel risk loci for uveal melanoma
Ferguson, R., Vogelsang, M., Ucisik-Akkaya, E., Rai, K., Pilarski, R., Martinez, C. N., Rendleman, J., Kazlow, E., Nagdimov, K., Osman, I., et al. (2016) · Scientific Reports · doi:10.1038/srep31191 · Cited by 51
Aponte, J. L., Chiano, M. N., Yerges-Armstrong, L. M., Hinds, D. A., Tian, C., Gupta, A., Guo, C., Fraser, D. J., Freudenberg, J., Rajpal, D. K., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy184 · Cited by 48
Identification of Genetic and Epigenetic Marks Involved in Population Structure
Liu, J., Hutchison, K. E., Perrone‐Bizzozero, N. I., Morgan, M., Jing Sui （Beijing Normal University）， my correct affiliation is beijing normal university, N. Q. U. O. S. A. T., & Calhoun, V. D. (2010) · PLoS ONE · doi:10.1371/journal.pone.0013209 · Cited by 45
HERCing: Structural and Functional Relevance of the Large HERC Ubiquitin Ligases
García‐Cano, J., Martinez-Martinez, A., Sala-Gaston, J., Pedrazza, L., & Rosa, J. L. (2019) · Frontiers in Physiology · doi:10.3389/fphys.2019.01014 · Cited by 43
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
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 44
Combining genome-wide association studies highlight novel loci involved in human facial variation
Xiong, Z., Gao, X., Chen, Y., Feng, Z., Pan, S., Lu, H., Uitterlinden, A. G., Nijsten, T., Ikram, A., Rivadeneira, F., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-35328-9 · Cited by 37
Self-citationEstimating the Ages of Selection Signals from Different Epochs in Human History
Nakagome, S., Alkorta‐Aranburu, G., Amato, R., Howie, B., Peter, B. M., Hudson, R. R., & Rienzo, A. D. (2015) · Molecular Biology and Evolution · doi:10.1093/molbev/msv256 · Cited by 38
Ibarrola‐Villava, M., Fernández, L. P., Pita, G., Bravo, J., Floristán, U., Sendagorta, E., Rodríguez, M. F., Avilés, J. A., Martín‐González, M., Lázaro, P., et al. (2010) · Experimental Dermatology · doi:10.1111/j.1600-0625.2010.01115.x · Cited by 36
Single Nucleotide Polymorphisms and Applications
Butler, J. M. (2011) · Elsevier eBooks · doi:10.1016/b978-0-12-374513-2.00012-9 · Cited by 43
Wollstein, A., Walsh, S., Liu, F., Chakravarthy, U., Rahu, M., Seland, J. H., Soubrane, G., Tomazzoli, L., Topouzis, F., Vingerling, J. R., et al. (2017) · Scientific Reports · doi:10.1038/srep43359 · Cited by 36
Self-citationPrediction 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
Vela, S. O., Beyeler, M. J., Trofimova, O., Iuliani, I., Quiros, J. V., de Vries, V. A., Meloni, I., Elwakil, A., Hoogewoud, F., Liefers, B. J., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-52334-1 · Cited by 36
Self-citationDNA phenotyping: current application in forensic science
Marano, L. A., & Fridman, C. (2019) · Research and Reports in Forensic Medical Science · doi:10.2147/rrfms.s164090 · Cited by 41
Metadata
- Authors
- Kayser, 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., den Dunnen, J. T., Heath, S., Zelenika, D., Despriet, D. D. G., Klaver, C. C. W., Vingerling, J. R., de Jong, P. T. V. M., Hofman, A., Aulchenko, Y. S., Uitterlinden, A. G., Oostra, B. A., & van Duijn, C. M.
- Affiliations
- Erasmus MC (NL)
- Netherlands Forensic Institute (NL)
- Corresponding author
- Kayser, Manfred
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2008-02
- Volume
- 82
- Issue
- 2
- Pages
- 411-423
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC2427174
- OpenAlex
- W2069491279
- Cited by
- 260
- References
- 49
- Citations by year
- 2026: 4 · 2025: 4 · 2024: 15 · 2023: 11 · 2022: 10 · 2021: 14 · 2020: 14 · 2019: 9 · 2018: 12 · 2017: 13 · 2016: 12 · 2015: 14 · 2014: 12 · 2013: 22 · 2012: 16
- FWCI
- 11.37
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- KNAW research portal (Royal Academy of Art and Sciences (KNAW)) (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (acceptedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Pure Amsterdam UMC (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion)
- Funders
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (911-03-012, 175.010.200, 175.010.2005.011, 912-03-014)
- Erasmus Universitair Medisch Centrum Rotterdam
- 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
- iris color, HERC2, OCA2, eye color genetics, single nucleotide polymorphisms, allele frequency clines, forensic identification, Mendelian segregation
- MeSH terms
- Chromosome Mapping, Chromosomes, Human, Pair 15, Eye Color, Gene Expression Regulation, Humans, Netherlands, Polymorphism, Single Nucleotide, Guanine Nucleotide Exchange Factors, Genomics, Membrane Transport Proteins, White People, Ubiquitin-Protein Ligases, Microarray Analysis
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
