Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up
Open accessAbstract
In the International Visible Trait Genetics (VisiGen) Consortium, we investigated the genetics of human skin color by combining a series of genome-wide association studies (GWAS) in a total of 17,262 Europeans with functional follow-up of discovered loci. Our GWAS provide the first genome-wide significant evidence for chromosome 20q11.22 harboring the ASIP gene being explicitly associated with skin color in Europeans. In addition, genomic loci at 5p13.2 (SLC45A2), 6p25.3 (IRF4), 15q13.1 (HERC2/OCA2), and 16q24.3 (MC1R) were confirmed to be involved in skin coloration in Europeans. In follow-up gene expression and regulation studies of 22 genes in 20q11.22, we highlighted two novel genes EIF2S2 and GSS, serving as competing functional candidates in this region and providing future research lines. A genetically inferred skin color score obtained from the 9 top-associated SNPs from 9 genes in 940 worldwide samples (HGDP-CEPH) showed a clear gradual pattern in Western Eurasians similar to the distribution of physical skin color, suggesting the used 9 SNPs as suitable markers for DNA prediction of skin color in Europeans and neighboring populations, relevant in future forensic and anthropological investigations.
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
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?
In European populations, predictive models based on only 9 SNPs capture up to 16% of the variance in skin pigmentation.
“In European populations, predictive models based on only 9 SNPs capture up to 16% of the variance in skin pigmentation (Liu et al., 2015), highlighting its relative simplicity.”
From An Unexpectedly Complex Architecture for Skin Pigmentation in Africans (2017) · cites this paper as Liu et al., 2015
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
Siepel, A., Bejerano, G., Pedersen, J. S., Hinrichs, A. S., Hou, M., Rosenbloom, K., Clawson, H., Spieth, J., Hillier, L. W., Richards, S., et al. (2005) · Genome Research · doi:10.1101/gr.3715005 · Cited by 4,408 · see citing works
The validity and practicality of sun-reactive skin types I through VI
Fitzpatrick, T. B. (1988) · Archives of Dermatology · doi:10.1001/archderm.1988.01670060015008 · Cited by 4,339 · see citing works
Histone H3K27ac separates active from poised enhancers and predicts developmental state
Creyghton, M. P., Cheng, A. W., Welstead, G. G., Kooistra, T., Carey, B. W., Steine, E. J., Hanna, J., Lodato, M. A., Frampton, G. M., Sharp, P. A., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1016071107 · Cited by 4,302 · see citing works
Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
Abecasis, G. R., Cherny, S. S., Cookson, W., & Cardon, L. R. (2001) · Nature Genetics · doi:10.1038/ng786 · Cited by 3,323 · see citing works
LocusZoom: regional visualization of genome-wide association scan results
Pruim, R. J., Welch, R. P., Sanna, S., Teslovich, T. M., Chines, P. S., Gliedt, T. P., Boehnke, M., Abecasis, G. R., & Willer, C. J. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq419 · Cited by 2,707 · see citing works
The Electronic Medical Records and Genomics (eMERGE) Consortium, Wood, A. R., The MIGen Consortium, The PAGE Consortium, Study, T. L. C., Esko, T., Yang, J., Vedantam, S., Pers, T. H., Gustafsson, S., et al. (2014) · Nature Genetics · doi:10.1038/ng.3097 · Cited by 1,853 · see citing works
The Rotterdam Study: objectives and design update
Albert Hofman, D., Breteler, M. M. B., van Duijn, C. M., Krestin, G. P., Pols, H. A. P., Stricker, B. H. C., Tiemeier, H. W., Uitterlinden, A. G., Vingerling, J. R., & Witteman, J. C. M. (2007) · European Journal of Epidemiology · doi:10.1007/s10654-007-9199-x · Cited by 1,404 · see citing works
MITF: master regulator of melanocyte development and melanoma oncogene
Levy, C., Khaled, M., & Fisher, D. E. (2006) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2006.07.008 · Cited by 1,169 · see citing works
Wada, K., Tanaka, K., & Nakashima, K. (2011) · PubMed · Cited by 1,132 · see citing works
SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans
Lamason, R. L., Mohideen, M.-A. P. K., Mest, J. R., Wong, A. C., Norton, H. L., Aros, M. C., Jurynec, M. J., Mao, X., Humphreville, V. R., Humbert, J. E., et al. (2005) · Science · doi:10.1126/science.1116238 · Cited by 1,043 · see citing works
ENCODE Data in the UCSC Genome Browser: year 5 update
Rosenbloom, K., Sloan, C. A., Malladi, V., Dreszer, T. R., Learned, K., Kirkup, V. M., Wong, M., Maddren, M., Fang, R.-H., Heitner, S. G., et al. (2012) · Nucleic Acids Res. · doi:10.1093/nar/gks1172 · Cited by 827 · see citing works
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 524 · see citing works
A Chemist's View of Melanogenesis
Ito, S. (2003) · Pigment Cell Research · doi:10.1034/j.1600-0749.2003.00037.x · Cited by 508 · 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-citationPhysiological factors that regulate skin pigmentation
Yamaguchi, Y., & Hearing, V. J. (2009) · BioFactors · doi:10.1002/biof.29 · Cited by 495 · see citing works
Kayser, M. (2015) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2015.02.003 · Cited by 447 · see citing works
Family-Based Association Tests for Genomewide Association Scans
Chen, W., & Abecasis, G. R. (2007) · The American Journal of Human Genetics · doi:10.1086/521580 · Cited by 398 · see citing works
The Architecture of Gene Regulatory Variation across Multiple Human Tissues: The MuTHER Study
Nica, A. C., Parts, L., Glass, D., Nisbet, J. P., Barrett, A., Sekowska, M., Travers, M. E., Potter, S., Grundberg, E., Small, K. S., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002003 · Cited by 395 · see citing works
Molecular genetics of human pigmentation diversity
Sturm, R. A. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp003 · Cited by 379 · see citing works
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
Two newly identified genetic determinants of pigmentation in Europeans
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Jakobsdottir, M., Steinberg, S., Gudjonsson, S. A., Palsson, A., Thorleifsson, G., et al. (2008) · Nature Genetics · doi:10.1038/ng.160 · Cited by 368 · see citing works
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
The Rotterdam Study: 2014 objectives and design update
Albert Hofman, D., Murad, S. D., van Duijn, C. M., Franco, O. H., Goedegebure, A., Ikram, M. A., Klaver, C. C. W., Nijsten, T. E. C., Peeters, R. P., Stricker, B. H. C., et al. (2013) · European Journal of Epidemiology · doi:10.1007/s10654-013-9866-z · Cited by 330 · see citing works
Small, K. S., Grundberg, E., Soranzo, N., Ahmadi, K. R., Spector, T. D., Shin, S., Deloukas, P., Hedman, Å. K., Lindgren, C. M., McCarthy, M. I., et al. (2011) · Nature Genetics · doi:10.1038/ng.833 · Cited by 319 · see citing works
Melanocyte stem cells: a melanocyte reservoir in hair follicles for hair and skin pigmentation
Nishimura, E. K. (2011) · Pigment Cell & Melanoma Research · doi:10.1111/j.1755-148x.2011.00855.x · Cited by 316 · see citing works
Eye 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 · see citing works
Visser, M., Kayser, M., & Palstra, R.-J. T. S. (2012) · Genome Research · doi:10.1101/gr.128652.111 · Cited by 278 · see citing works
Strub, T., Giuliano, S., Ye, T., Bonet, C., Keime, C., Kobi, D., Le Gras, S., Cormont, M., Ballotti, R., Bertolotto, C., et al. (2011) · Oncogene · doi:10.1038/onc.2010.612 · Cited by 269 · see citing works
A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway
Praetorius, C., Grill, C., Stacey, S. N., Metcalf, A. M., Gorkin, D. U., Robinson, K. C., Van Otterloo, E., Kim, R. S. Q., Bergsteinsdottir, K., Ogmundsdottir, M. H., et al. (2013) · Cell · doi:10.1016/j.cell.2013.10.022 · Cited by 228 · cited 1× · see citing works
“As non-coding SNPs have been reported to be involved in transcriptional regulation of nearby pigmentation genes (Guenther et al. 2014; Praetorius et al. 2013; Visser et al. 2012, 2014, 2015), we next investigated the correlation between the genotypes of rs6059655 and the transcription of the 22…”
BackgroundCommon sequence variants on 20q11.22 confer melanoma susceptibility
Brown, K. M., MacGregor, S., Montgomery, G. W., Craig, D. W., Zhao, Z., Iyadurai, K., Henders, A. K., Homer, N., Campbell, M. J., Stark, M. S., et al. (2008) · Nature Genetics · doi:10.1038/ng.163 · Cited by 222 · see citing works
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 · see citing works
Michaud, E. J., Bultman, S. J., Klebig, M. L., van Vugt, M. J., Stubbs, L. J., Russell, L. B., & Woychik, R. P. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.7.2562 · Cited by 193 · 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
Suzuki, I., Tada, A., Ollmann, M. M., Barsh, G. S., Im, S., Lamoreux, M. L., Hearing, V. J., Nordlund, J. J., & ABDEL‐MALEK, Z. A. (1997) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12292572 · Cited by 183 · see citing works
A molecular basis for classic blond hair color in Europeans
Guenther, C. A., Tasic, B., Luo, L., Bedell, M. A., & Kingsley, D. M. (2014) · Nature Genetics · doi:10.1038/ng.2991 · Cited by 166 · see citing works
UV Signaling Pathways within the Skin
Chen, H., Weng, Q. Y., & Fisher, D. E. (2014) · Journal of Investigative Dermatology · doi:10.1038/jid.2014.161 · Cited by 151 · see citing works
Panzella, L., Leone, L., Greco, G., Vitiello, G., D'Errico, G., Napolitano, A., & d'Ischia, M. (2014) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12199 · Cited by 112 · see citing works
The Melanocyte and the Epidermal Melanin Unit: An Expanded Concept
Nordlund, J. J. (2007) · Dermatologic Clinics · doi:10.1016/j.det.2007.04.001 · Cited by 109 · see citing works
Glutathione as an oral whitening agent: A randomized, double-blind, placebo-controlled study
Arjinpathana, N., & Asawanonda, P. (2010) · Journal of Dermatological Treatment · doi:10.3109/09546631003801619 · Cited by 106 · see citing works
Jacobs, 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 · see citing works
Jara, J. R., Aroca, P., Solano, F., Martínez, J. H., & Lozano, J. A. (1988) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/0304-4165(88)90023-2 · Cited by 85 · 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
Visser, M., Palstra, R.-J. T. S., & Kayser, M. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu289 · Cited by 73 · see citing works
Gorkin, D. U., Lee, D., Reed, X., Fletez-Brant, C., Bessling, S. L., Loftus, S. K., Beer, M., Pavan, W. J., & McCallion, A. S. (2012) · Genome Research · doi:10.1101/gr.139360.112 · Cited by 69 · see citing works
Glutathione Depletion Increases Tyrosinase Activity in Human Melanoma Cells
del Mármol, V., Solano, F., Sels, A., Huez, G. A., Libert, A., Lejeune, F., & Ghanem, G. (1993) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12371709 · Cited by 67 · see citing works
Visser, M., Palstra, R.-J., & Kayser, M. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv029 · Cited by 57 · see citing works
YY1 regulates melanocyte development and function by cooperating with MITF
Song, J. S., Li, J., Song, J., Bell, R., Tran, T., Haq, R., Liu, H., Love, K., Langer, R., Anderson, D., et al. (2012) · eScholarship (California Digital Library) · Cited by 49 · see citing works
Heaney, J. D., Michelson, M. V., Youngren, K. K., Lam, M.-Y., & Nadeau, J. H. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp045 · Cited by 46 · see citing works
Normal and abnormal skin color
Ortonne, J. ‐. (2012) · Annales de Dermatologie et de Vénéréologie · doi:10.1016/s0151-9638(12)70123-0 · Cited by 41 · see citing works
The Epidermal Melanin Unit in the Pathophysiology of Malignant Melanoma
Jimbow, K., Salopek, T. G., Dixon, W. T., Searles, G. E., & Yamada, K. (1991) · American Journal of Dermatopathology · doi:10.1097/00000372-199104000-00013 · Cited by 35 · see citing works
Glutathione and human pigmentation.
Halprin, K. M., & Ohkawara, A. (1966) · PubMed · Cited by 25 · see citing works
Glutathione and Human Pigmentation
Halprin, K. M. (1966) · Archives of Dermatology · doi:10.1001/archderm.1966.01600270105022 · Cited by 21 · see citing works
Liu, F., Struchalin, M. V., van Duijn, K., Albert Hofman, D., Uitterlinden, A. G., van Duijn, C. M., Aulchenko, Y. S., & Kayser, M. (2011) · PLoS ONE · doi:10.1371/journal.pone.0028145 · Cited by 19 · see citing works
YY1 Regulates Melanocyte Development and Function by Cooperating with MITF
Li, J., Song, J. S., Bell, R. J. A., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002688 · Cited by 4 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
The Rotterdam Study: 2018 update on objectives, design and main results
Ikram, M. A., Brusselle, G., Murad, S. D., van Duijn, C. M., Franco, O. H., Goedegebure, A., Klaver, C. C. W., Nijsten, T. E. C., Peeters, R. P., Stricker, B. H. C., et al. (2017) · European Journal of Epidemiology · doi:10.1007/s10654-017-0321-4 · Cited by 431 · see citing works
The Rotterdam Study: 2016 objectives and design update
Albert Hofman, D., Brusselle, G., Murad, S. D., van Duijn, C. M., Franco, O. H., Goedegebure, A., Ikram, M. A., Klaver, C. C. W., Nijsten, T. E. C., Peeters, R. P., et al. (2015) · European Journal of Epidemiology · doi:10.1007/s10654-015-0082-x · Cited by 382 · see citing works
Jin, Y., Andersen, G. H. L., Yorgov, D., Ferrara, T. M., Ben, S., Brownson, K. M., Holland, P. J., Birlea, S. A., Siebert, J., Hartmann, A., et al. (2016) · Nature Genetics · doi:10.1038/ng.3680 · Cited by 348 · see citing works
Loci associated with skin pigmentation identified in African populations
Crawford, N. G., Kelly, D., Hansen, M. E. B., Beltrame, M., Fan, S.-H., Bowman, S. L., Jewett, E., Ranciaro, A., Thompson, S., Lo, Y., et al. (2017) · Science · doi:10.1126/science.aan8433 · Cited by 345 · 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
Self-citationOvercoming Immune Evasion in Melanoma
Eddy, K., & Chen, S. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21238984 · Cited by 230 · see citing works
Skin pigmentation and its control: from ultraviolet radiation to stem cells
Yardman‐Frank, J. M., & Fisher, D. E. (2021) · Experimental Dermatology · doi:10.1111/exd.14260 · Cited by 197 · see citing works
Adhikari, K., Mendoza‐Revilla, J., Sohail, A., Fuentes‐Guajardo, M., Lampert, J. E., Chacón-Duque, J. C., Hurtado, M., Villegas, V., Granja, V., Acuña-Alonzo, V., et al. (2019) · Nature Communications · doi:10.1038/s41467-018-08147-0 · Cited by 182 · see citing works
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 159 · 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
An 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
Identification of individuals by trait prediction using whole-genome sequencing data
Lippert, C., Sabatini, R., Maher, M. C., Kang, E. Y., Lee, S., Arıkan, O., Harley, A. S., Bernal, A., Garst, P., Lavrenko, V. P., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1711125114 · Cited by 154 · see citing works
A Fast and Accurate Algorithm to Test for Binary Phenotypes and Its Application to PheWAS
Dey, R., Schmidt, E. M., Abecasis, G. R., & Lee, S. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.05.014 · Cited by 143 · see citing works
Choi, J., Zhang, T., Vu, A. H., Ablain, J., Makowski, M. M., Colli, L. M., Xu, M., Hennessey, R. C., Yin, J., Rothschild, H., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-16590-1 · Cited by 139 · see citing works
SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation
Le, L., Escobar, I. E., Ho, T., Lefkovith, A. J., Latteri, E., Haltaufderhyde, K. D., Dennis, M. K., Plowright, L., Sviderskaya, E. V., Bennett, D. C., et al. (2020) · Molecular Biology of the Cell · doi:10.1091/mbc.e20-03-0200 · Cited by 111 · see citing works
Hida, T., Kamiya, T., Kawakami, A., Ogino, J., Sohma, H., Uhara, H., & Jimbow, K. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21176129 · Cited by 116 · see citing works
MC1R signaling. Intracellular partners and pathophysiological implications
Herráiz, C., García-Borrón, J. C., Jiménez‐Cervantes, C., & Olivares, C. (2017) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2017.02.027 · Cited by 109 · see citing works
Hysi, P. G., Valdes, A. M., Liu, F., Furlotte, N. A., Evans, D. M., Bataille, V. A., Visconti, A., Hemani, G., McMahon, G., Ring, S. M., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0100-5 · Cited by 104 · see citing works
Visconti, A., Duffy, D. L., Liu, F., Zhu, G., Wu, W., Chen, Y., Hysi, P. G., Zeng, C., Sanna, M., Iles, M. M., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-04086-y · Cited by 103 · see citing works
The MC1R Gene and Youthful Looks
Liu, F., Hamer, M. A., Deelen, J., Lall, J. S., Jacobs, L. C., van Heemst, D., Murray, P., Wollstein, A., de Craen, A. J. M., Uh, H., et al. (2016) · Current Biology · doi:10.1016/j.cub.2016.03.008 · Cited by 97 · see citing works
Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma
Asgari, M. M., Wang, W., Ioannidis, N. M., Itnyre, J., Hoffmann, T. J., Jorgenson, E., & Whittemore, A. S. (2016) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2016.01.013 · Cited by 93 · see citing works
Dutta, P., Talenti, A., Young, R. A., Jayaraman, S., Callaby, R., Jadhav, S. K., Dhanikachalam, V., Manikandan, M., Biswa, B. B., Low, W. Y., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-18550-1 · Cited by 91 · see citing works
Endo, C., Johnson, T. A., Morino, R., Nakazono, K., Kamitsuji, S., Akita, M., Kawajiri, M., Yamasaki, T., Kami, A., Hoshi, Y., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-27145-2 · Cited by 86 · see citing works
The evolution of skin pigmentation-associated variation in West Eurasia
Ju, D., & Mathieson, I. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2009227118 · Cited by 81 · see citing works
Zhang, T.-W., Choi, J., Kovacs, M. A., Shi, J.-X., Xu, M., Program, N., Goldstein, A., Trower, A. J., Bishop, D., Iles, M., et al. (2017) · bioRxiv · doi:10.1101/gr.233304.117 · Cited by 75 · see citing works
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 85 · see citing works
Wang, S., Rohwer, S. A., de Zwaan, D. R., Toews, D. P. L., Lovette, I. J., Mackenzie, J., & Irwin, D. E. (2020) · Evolution Letters · doi:10.1002/evl3.198 · Cited by 68 · see citing works
Shades 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 · see citing works
Lona‐Durazo, F., Hernandez‐Pacheco, N., Fan, S., Zhang, T., Choi, J., Kovacs, M. A., Loftus, S. K., Le, P., Edwards, M., Fortes‐Lima, C., et al. (2019) · BMC Genetics · doi:10.1186/s12863-019-0765-5 · Cited by 53 · see citing works
Yadon, N. D., & Ostfeld, M. C. (2020) · Political Behavior · doi:10.1007/s11109-020-09635-0 · Cited by 50 · see citing works
Skin Pigmentation Genetics for the Clinic
Ainger, S. A., Jagirdar, K., Lee, K., Soyer, H. P., & Sturm, R. A. (2017) · Dermatology · doi:10.1159/000468538 · Cited by 50 · see citing works
The Evolutionary History of Human Skin Pigmentation
Rocha, J. (2019) · Journal of Molecular Evolution · doi:10.1007/s00239-019-09902-7 · Cited by 50 · see citing works
DNA-based predictive models for the presence of freckles
Kukla‐Bartoszek, M., Pośpiech, E., Woźniak, A., Boroń, M., Karłowska-Pik, J., Teisseyre, P., Zubańska, M., Bronikowska, A., Grzybowski, T., Płoski, R., et al. (2019) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2019.07.012 · Cited by 46 · see citing works
Granja, R., & Machado, H. (2020) · Social Studies of Science · doi:10.1177/0306312720945033 · Cited by 46 · see citing works
Jonnalagadda, M., Faizan, M. A., Ozarkar, S., Ashma, R., Kulkarni, S. S., Norton, H., & Parra, E. J. (2019) · Genome Biology and Evolution · doi:10.1093/gbe/evz057 · Cited by 43 · see citing works
Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma
Gu, F., Chen, T.-H., Pfeiffer, R. M., Fargnoli, M. C., Calista, D., Ghiorzo, P., Peris, K., Puig, S., Menin, C., Nicolo, A. D., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy282 · Cited by 44 · see citing works
Racialising genetic risk: assumptions, realities, and recommendations
Cerdeña, J. P., Grubbs, V., & Non, A. L. (2022) · The Lancet · doi:10.1016/s0140-6736(22)02040-2 · Cited by 44 · see citing works
Sunlight: For Better or For Worse? A Review of Positive and Negative Effects of Sun Exposure
van der Rhee, H., de Vries, E., Coomans, C. P., van de Velde, P., & Coebergh, J. W. W. (2016) · Cancer Research Frontiers · doi:10.17980/2016.156 · Cited by 43 · see citing works
Public Attitudes, Interests, and Concerns Regarding Polygenic Embryo Screening
Furrer, R. A., Barlevy, D., Pereira, S., Carmi, S., Lencz, T., & Lázaro‐Muñoz, G. (2024) · JAMA Network Open · doi:10.1001/jamanetworkopen.2024.10832 · Cited by 42 · see citing works
Identification of a novel locus associated with skin colour in African-admixed populations
Hernandez‐Pacheco, N., Flores, C., Alonso, S., Eng, C. S., Mak, A. C. Y., Hunstman, S., Hu, D., White, M. J., Oh, S. S., Meade, K. E., et al. (2017) · Scientific Reports · doi:10.1038/srep44548 · Cited by 42 · see citing works
Galván‐Femenía, I., Obón‐Santacana, M., Piñeyro, D., Guindo-Martínez, M., Duran, X., Carreras, A., Pluvinet, R., Velasco, J., Ramos, L., Aussó, S., et al. (2018) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105437 · 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
High-coverage genome of the Tyrolean Iceman reveals unusually high Anatolian farmer ancestry
Wang, K., Prüfer, K., Krause‐Kyora, B., Childebayeva, A., Schuenemann, V. J., Coia, V., Maixner, F., Zink, A., Schiffels, S., & Krause, J. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100377 · Cited by 39 · see citing works
Fracasso, N. C. A., de Andrade, E. S., Wiezel, C. E. V., Andrade, C. C. F., Zanão, L. R., da Silva, M. S., Marano, L. A., Donadi, E. A., Castelli, E. C., Simões, A. L., et al. (2017) · Legal Medicine · doi:10.1016/j.legalmed.2016.12.013 · Cited by 36 · see citing works
Ng, J. Y., & Chew, F. T. (2022) · Scientific Reports · doi:10.1038/s41598-022-17443-1 · Cited by 35 · see citing works
Analysis of the genetic loci of pigment pattern evolution in vertebrates
Elkin, J., Martin, A., Courtier‐Orgogozo, V., & Santos, M. E. (2023) · Biological reviews/Biological reviews of the Cambridge Philosophical Society · doi:10.1111/brv.12952 · Cited by 35 · see citing works
DNA 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 38 · see citing works
Rawofi, L., Edwards, M., Krithika, S., Le, P., Cha, D., Yang, Z., Ma, Y., Wang, J., Su, B., Li, J., et al. (2017) · PeerJ · doi:10.7717/peerj.3951 · Cited by 31 · see citing works
Gutiérrez‐Gil, B., Esteban‐Blanco, C., Wiener, P., Chitneedi, P., Suárez‐Vega, A., & Arranz, J. J. (2017) · Genetics Selection Evolution · doi:10.1186/s12711-017-0354-x · Cited by 33 · see citing works
Peng, F., Zhu, G., Hysi, P. G., Eller, R. J., Chen, Y., Li, Y., Hamer, M. A., Zeng, C., Hopkins, R. L., Jacobus, C. L., et al. (2019) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2018.12.029 · Cited by 33 · see citing works
Evolutionary 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
Fritsche, L. G., Beesley, L. J., VandeHaar, P., Peng, R. B., Salvatore, M., Zawistowski, M., Taliun, S. A. G., Das, S., LeFaive, J., Kaleba, E. O., et al. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1008202 · Cited by 32 · see citing works
Evaluation of supervised machine-learning methods for predicting appearance traits from DNA.
Katsara, M., Branicki, W., Walsh, S., Kayser, M., & Nothnagel, M. (2021) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2021.102507 · Cited by 33 · see citing works
Simcoe, M. J., Shah, A., Fan, B., Choquet, H., Weisschuh, N., Waseem, N. H., Chen, J., Melles, R. B., Ritch, R. H., Mahroo, O. A., et al. (2022) · Ophthalmology · doi:10.1016/j.ophtha.2022.01.005 · Cited by 33 · 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
Markiewicz, E., & Idowu, O. C. (2020) · Clinical Cosmetic and Investigational Dermatology · doi:10.2147/ccid.s245043 · Cited by 33 · see citing works
Norton, H. L., Edwards, M., Krithika, S., Johnson, M., Werren, E. A., & Parra, E. J. (2016) · American Journal of Physical Anthropology · doi:10.1002/ajpa.22861 · Cited by 30 · see citing works
Feng, Y., Xie, N., Inoue, F., Fan, S., Saskin, J., Zhang, C., Zhang, F., Hansen, M. E. B., Nyambo, T., Mpoloka, S. W., et al. (2024) · Nature Genetics · doi:10.1038/s41588-023-01626-1 · Cited by 31 · 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
Genomic evidence for convergent evolution of a key trait underlying divergence in island birds
Cooper, E., & Uy, J. A. C. (2017) · Molecular Ecology · doi:10.1111/mec.14116 · Cited by 27 · see citing works
GWAS Analysis of 17,019 Korean Women Identifies the Variants Associated with Facial Pigmented Spots
Shin, J., Leem, S., Kim, B., Kim, Y., Lee, S., Song, H. J., Seo, J. Y., Park, S. G., Won, H., & Kang, N. G. (2020) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2020.08.007 · Cited by 26 · see citing works
McMeniman, E., Duffy, D. L., Jagirdar, K., Lee, K., Peach, E., McInerney-Leo, A. M., De’Ambrosis, B., Rayner, J. E., Smithers, B. M., Soyer, H. P., et al. (2019) · British Journal of Dermatology · doi:10.1111/bjd.18777 · Cited by 26 · see citing works
Crime investigation through DNA methylation analysis: methods and applications in forensics
Rana, A. K. (2018) · Egyptian Journal of Forensic Sciences · doi:10.1186/s41935-018-0042-1 · Cited by 25 · see citing works
Quantitative Human Paleogenetics: What can Ancient DNA Tell us About Complex Trait Evolution?
Irving-Pease, E. K., Muktupavela, R., Dannemann, M., & Racimo, F. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.703541 · Cited by 24 · see citing works
Prediction of human eye colour using highly informative phenotype SNPs (PISNPs)
Bulbul, O., Zorlu, T., & Filoglu, G. (2018) · Australian Journal of Forensic Sciences · doi:10.1080/00450618.2018.1484161 · Cited by 17 · see citing works
Predicting Physical Appearance from DNA Data—Towards Genomic Solutions
Pośpiech, E., Teisseyre, P., Mielniczuk, J., & Branicki, W. (2022) · Genes · doi:10.3390/genes13010121 · Cited by 23 · see citing works
Whole Genome Resequencing Reveals Selection Signals Related to Wool Color in Sheep
Zhang, W., Jin, M., Lu, Z., Li, T., Wang, H., Yuan, Z., & Wei, C. (2023) · Animals · doi:10.3390/ani13203265 · Cited by 23 · see citing works
Whole Genome Sequencing Reveals Signals of Adaptive Admixture in Creole Cattle
Ben-Jemaa, S., Adam, G., Boussaha, M., Bardou, P., Klopp, C., Mandonnet, N., & Naves, M. (2023) · Scientific Reports · doi:10.1038/s41598-023-38774-7 · Cited by 22 · see citing works
Selection signatures for fiber production in commercial species: A review
Ghildiyal, K., Panigrahi, M., Kumar, H., Rajawat, D., Nayak, S. S., Lei, C., Bhushan, B., & Dutt, T. (2022) · Animal Genetics · doi:10.1111/age.13272 · Cited by 23 · see citing works
Jonnalagadda, M., Norton, H., Ozarkar, S., Kulkarni, S. S., & Ashma, R. (2016) · American Journal of Human Biology · doi:10.1002/ajhb.22836 · Cited by 22 · see citing works
de Andrade, E. S., Fracasso, N. C. A., Strazza, P. S., Simões, A. L., & Mendes‐Junior, C. T. (2016) · Legal Medicine · doi:10.1016/j.legalmed.2016.12.003 · Cited by 22 · see citing works
Optimizing the genetic prediction of the eye and hair color for North Eurasian populations
Balanovska, E., Lukianova, E., Kagazezheva, J., Maurer, A., Leybova, N., Agdzhoyan, A., Gorin, I., Petrushenko, V., Zhabagin, M., Pylev, V., et al. (2020) · BMC Genomics · doi:10.1186/s12864-020-06923-1 · Cited by 21 · see citing works
Kim, Y., Yin, J., Huang, H., Jorgenson, E., Choquet, H., & Asgari, M. M. (2022) · Communications Biology · doi:10.1038/s42003-022-03301-3 · Cited by 24 · see citing works
Forensic DNA Phenotyping: Genes and Genetic Variants for Eye Color Prediction
Brancato, D., Coniglio, E., Bruno, F., Agostini, V., Saccone, S., & Federico, C. (2023) · Genes · doi:10.3390/genes14081604 · Cited by 23 · see citing works
Skin colour: A window into human phenotypic evolution and environmental adaptation
Liu, J., Bitsue, H. K., & Yang, Z. (2024) · Molecular Ecology · doi:10.1111/mec.17369 · Cited by 25 · see citing works
Genome-wide association study reveals sex-specific genetic architecture of facial attractiveness
Hu, B., Shen, N., Li, J. J., Kang, H., Hong, J., Fletcher, J. M., Greenberg, J. S., Seltzer, M. M., & Lu, Q. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1007973 · Cited by 21 · see citing works
Prediction of eye, hair and skin colour in Latin Americans.
Palmal, S., Adhikari, K., Mendoza-Revilla, J., Fuentes-Guajardo, M., de Cerqueira, C. C. S., Bonfante, B., Chacón-Duque, J., Sohail, A., Hurtado, M., Villegas, V., et al. (2021) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2021.102517 · Cited by 21 · see citing works
Xu, M., Mehl, L. C., Zhang, T., Thakur, R., Sowards, H., Myers, T. A., Jessop, L., Chesi, A., Johnson, M. E., Wells, A. D., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.07.002 · Cited by 17 · see citing works
Farré, X., Blay, N., Cortés, B., Carreras, A., Iraola‐Guzmán, S., & de Cid, R. (2023) · Genes · doi:10.3390/genes14010149 · Cited by 19 · see citing works
Anbunathan, H., & Bowcock, A. M. (2017) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2016.03.047 · Cited by 20 · see citing works
Off-target phenotypes in forensic DNA phenotyping and biogeographic ancestry inference: A resource
Bradbury, C., Köttgen, A., & Staubach, F. (2018) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2018.10.010 · Cited by 20 · see citing works
Personalized skincare: from molecular basis to clinical and commercial applications
Markiewicz, E., & Idowu, O. C. (2018) · Clinical Cosmetic and Investigational Dermatology · doi:10.2147/ccid.s163799 · Cited by 20 · see citing works
Lim, H. C., Bennett, K. F. P., Justyn, N. M., Powers, M. J., Long, K. M., Kingston, S. E., Lindsay, W. R., Pease, J. B., Fuxjager, M. J., Bolton, P. E., et al. (2024) · Science Advances · doi:10.1126/sciadv.adn8339 · Cited by 18 · see citing works
A sequence of SVA retrotransposon insertions in ASIP shaped human pigmentation
Kamitaki, N., Hujoel, M. L. A., Mukamel, R. E., Gebara, E., McCarroll, S. A., & Loh, P. (2024) · Nature Genetics · doi:10.1038/s41588-024-01841-4 · Cited by 18 · see citing works
Pardo, L. M., Hamer, M. A., Liu, F., Velthuis, P. J., Kayser, M., Gunn, D. A., & Nijsten, T. E. C. (2019) · British Journal of Dermatology · doi:10.1111/bjd.18523 · Cited by 17 · see citing works
Ji, P., Wang, H., Cheng, Y., & Liang, S. (2021) · Journal of Gastrointestinal Oncology · doi:10.21037/jgo-21-748 · Cited by 16 · see citing works
Cumer, T., Machado, A. P., San‐Jose, L. M., Ducrest, A., Simon, C., Roulin, A., & Goudet, J. (2024) · Proceedings of the Royal Society B Biological Sciences · doi:10.1098/rspb.2023.1995 · Cited by 15 · see citing works
Investigating the genetic architecture of eye colour in a Canadian cohort
Lona‐Durazo, F., Thakur, R., Pairo‐Castineira, E., Funderburk, K. M., Zhang, T., Kovacs, M. A., Choi, J., Jackson, I. J., Brown, K. M., & Parra, E. J. (2022) · iScience · doi:10.1016/j.isci.2022.104485 · Cited by 14 · see citing works
Chen, Y., Branicki, W., Walsh, S., Nothnagel, M., Kayser, M., & Liu, F. (2020) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2020.102395 · Cited by 15 · see citing works
Insights on hair, skin and eye color of ancient and contemporary Native Americans
Carratto, T. M. T., Marcorin, L., Debortoli, G., Hünemeier, T., Norton, H., Parra, E. J., Castelli, E. C., & Mendes‐Junior, C. T. (2020) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2020.102335 · Cited by 14 · see citing works
Wang, Y. (2021) · Hereditas · doi:10.1186/s41065-021-00189-7 · Cited by 15 · see citing works
Identifying signatures of positive selection in pigmentation genes in two South Asian populations
Jonnalagadda, M., Bharti, N., Patil, Y., Ozarkar, S., Sunitha Manjari, K., Joshi, R., & Norton, H. (2017) · American Journal of Human Biology · doi:10.1002/ajhb.23012 · Cited by 13 · see citing works
Wendt, F. R., Pathak, G. A., & Polimanti, R. (2022) · Nature Communications · doi:10.1038/s41467-022-35423-x · Cited by 12 · see citing works
Zhong, K., Verkouteren, J. A. C., Jacobs, L. C., Uitterlinden, A. G., Albert Hofman, D., Liu, F., Nijsten, T. E. C., & Kayser, M. (2016) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2016.09.007 · Cited by 12 · see citing works
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 · see citing works
Effect of Type of Degraded DNA Samples on Human Eye Color Prediction
Devranoğlu, D., Tavaci, I., Filoğlu, G., & Bülbül, Ö. (2020) · Pakistan Journal of Zoology · doi:10.17582/journal.pjz/20200310120332 · Cited by 11 · see citing works
Villaplana-Velasco, A., Pigeyre, M., Engelmann, J., Rawlik, K., Canela‐Xandri, O., Tochel, C., Lona‐Durazo, F., Mookiah, M. R. K., Doney, A. S. F., Parra, E. J., et al. (2023) · Communications Biology · doi:10.1038/s42003-023-04836-9 · Cited by 11 · see citing works
Bayesian model comparison for rare-variant association studies
Venkataraman, G. R., DeBoever, C., Tanigawa, Y., Aguirre, M., Ioannidis, A. G., Mostafavi, H., Spencer, C. C. A., Poterba, T., Bustamante, C. D., Daly, M. J., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.11.005 · Cited by 11 · see citing works
Garcin, L., Gelot, A., Gomez, R., Gusto, G., Boutron‐Ruault, M., Kvaskoff, M., Severi, G., & Besson, C. (2020) · Cancer Medicine · doi:10.1002/cam4.3586 · Cited by 10 · see citing works
Jemaa, S. B., Boussaha, M., Mandonnet, N., Bardou, P., & Navès, M. (2024) · PLoS ONE · doi:10.1371/journal.pone.0309411 · Cited by 10 · see citing works
- Authors
- Liu, F., Visser, M., Duffy, D. L., Hysi, P. G., Jacobs, L. C., Lao, O., Zhong, K., Walsh, S., Chaitanya, L., Wollstein, A., Zhu, G., Montgomery, G. W., Henders, A. K., Mangino, M., Glass, D., Bataille, V., Sturm, R. A., Rivadeneira, F., Hofman, A., van IJcken, W. F. J., Uitterlinden, A. G., Palstra, R.-J. T. S., Spector, T. D., Martin, N. G., Nijsten, T. E. C., & Kayser, M.
- Affiliations
- Erasmus MC (NL)
- QIMR Berghofer Medical Research Institute (AU)
- King's College London (GB)
- Translational Research Institute (AU)
- Corresponding author
- Liu, Fan
- Kayser, Manfred
- ORCID
- Liu, Fan
- Visser, Mijke
- Duffy, David L.
- Hysi, Pirro G.
- Jacobs, Leonie C.
- Zhong, Kaiyin
- Walsh, Susan
- Chaitanya, Lakshmi
- Zhu, Gu
- Montgomery, Grant W.
- Henders, Anjali K.
- Mangino, Massimo
- Glass, Daniel
- Bataille, Veronique
- Sturm, Richard A.
- Rivadeneira, Fernando
- Uitterlinden, André G.
- Palstra, Robert-Jan T. S.
- Martin, Nicholas G.
- Nijsten, Tamar E. C.
- Kayser, Manfred
- Venue
- Human Genetics
- Published
- 2015-05-12
- Volume
- 134
- Issue
- 8
- Pages
- 823-835
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- PMC
- PMC4495261
- OpenAlex
- W1750145230
- Cited by
- 172
- References
- 54
- Citations by year
- 2026: 9 · 2025: 10 · 2024: 15 · 2023: 12 · 2022: 16 · 2021: 18 · 2020: 21 · 2019: 18 · 2018: 17 · 2017: 22 · 2016: 10 · 2015: 4
- FWCI
- 9.34
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Human Genetics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion, other-oa)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, other-oa)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- UCL Discovery (University College London) (submittedVersion)
- Research Portal (King's College London) (submittedVersion, cc-by)
- RePub (Erasmus University Rotterdam) (submittedVersion)
- IUScholarWorks (Indiana University) (submittedVersion, cc-by-nc-nd)
- PMC
- Funders
- Wellcome Trust
- National Institute for Health and Care Research (NF-SI-0514-10027)
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (911-03-012, 175.010.200)
- Medical Research Council (MR/N01104X/1)
- Biotechnology and Biological Sciences Research Council (G20234)
- National Eye Institute (R01EY018246)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD050735, HD50735)
- 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
- skin color, pigmentation genetics, ASIP, SLC45A2, IRF4, MC1R, gene expression regulation, General Social Survey, forensic anthropology, European populations
- MeSH terms
- Interferon Regulatory Factor-4, Antigens, Neoplasm, Chromosomes, Human, Female, Follow-Up Studies, United Kingdom, Humans, Male, Middle Aged, Skin Pigmentation, Polymorphism, Single Nucleotide, Guanine Nucleotide Exchange Factors, Membrane Transport Proteins, White People, Ubiquitin-Protein Ligases, Interferon Regulatory Factors, Agouti Signaling Protein, Genome-Wide Association Study, Genetic Loci
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
