Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans
Abstract
Natural variation in human skin pigmentation is primarily due to genetic causes rooted in recent evolutionary history. Genetic variants associated with human skin pigmentation confer risk of skin cancer and may provide useful information in forensic investigations. Almost all previous gene-mapping studies of human skin pigmentation were based on categorical skin color information known to oversimplify the continuous nature of human skin coloration. We digitally quantified skin color into hue and saturation dimensions for 5,860 Dutch Europeans based on high-resolution skin photographs. We then tested an extensive list of 14,185 single nucleotide polymorphisms in 281 candidate genes potentially involved in human skin pigmentation for association with quantitative skin color phenotypes. Confirmatory association was revealed for several known skin color genes including HERC2, MC1R, IRF4, TYR, OCA2, and ASIP. We identified two new skin color genes: genetic variants in UGT1A were significantly associated with hue and variants in BNC2 were significantly associated with saturation. Overall, digital quantification of human skin color allowed detecting new skin color genes. The variants identified in this study may also contribute to the risk of skin cancer. Our findings are also important for predicting skin color in forensic investigations.
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A high-frequency introgressed haplotype in this window influences skin pigmentation levels in Europeans.
“a high-frequency introgressed haplotype that influences skin pigmentation levels in Europeans (Fig. S15)59,60”
From Quantifying the contribution of Neanderthal introgression to the heritability of complex traits (2021) · cites this paper as [59]
UGT1A rs6742078 shows little evidence of having been a direct target of selection.
“However, it shows little evidence of having been a direct target of selection ( Jacobs et al., 2013 ).”
From The genetic architecture of human skin pigmentation: evolution and adaptation across global populations (2026) · cites this paper as Jacobs et al., 2013
UGT1A appears to influence pigmentation primarily through metabolic pathways rather than the canonical pathway of melanogenesis.
“UGT1A , in contrast, appears to influence pigmentation primarily through metabolic pathways rather than the canonical pathway of melanogenesis.”
From The genetic architecture of human skin pigmentation: evolution and adaptation across global populations (2026) · cites this paper as Jacobs et al., 2013
The rs6742078 variant of UGT1A is strongly associated with quantitative measures of skin hue in Europeans, marking it as a genuine but noncanonical pigmentation locus.
“The rs6742078 variant of this gene is strongly associated with quantitative measures of skin hue in Europeans, marking it as a genuine but noncanonical pigmentation locus.”
From The genetic architecture of human skin pigmentation: evolution and adaptation across global populations (2026) · cites this paper as Jacobs et al., 2013
Cites
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
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
Self-citationThe evolution of human skin coloration
Jablonski, N. G., & Chaplin, G. (2000) · Journal of Human Evolution · doi:10.1006/jhev.2000.0403 · Cited by 1,212 · cited 1× · see citing works
“Skin pigmentation is strikingly diverse in humans, varying from very dark to very light with increasing distance from the equator (Jablonski and Chaplin 2000).”
BackgroundWada, 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
Valverde, P., Healy, E., Jackson, I., Rees, J. L., & Thody, A. J. (1995) · Nature Genetics · doi:10.1038/ng1195-328 · Cited by 999 · see citing works
Smith, A. R. (1978) · ACM SIGGRAPH Computer Graphics · doi:10.1145/965139.807361 · Cited by 934 · see citing works
Smith, A. R. (1978) · ACM SIGGRAPH Annual Conference on Computer Graphics and Interactive Techniques (SIGGRAPH) · doi:10.1145/800248.807361 · Cited by 867 · see citing works
Gandini, S., Sera, F., Cattaruzza, M. S., Pasquini, P., Zanetti, R., Masini, C., Boyle, P., & Melchi, C. F. (2005) · European Journal of Cancer · doi:10.1016/j.ejca.2005.03.034 · Cited by 786 · see citing works
Genetic determinants of hair, eye and skin pigmentation in Europeans
Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., et al. (2007) · Nature Genetics · doi:10.1038/ng.2007.13 · Cited by 750 · see citing works
Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study
Richards, J. B., Rivadeneira, F., Inouye, M., Pastinen, T., Soranzo, N., Wilson, S. G., Andrew, T., Falchi, M., Gwilliam, R., Ahmadi, K. R., et al. (2008) · The Lancet · doi:10.1016/s0140-6736(08)60599-1 · Cited by 680 · see citing works
Self-citationGrønskov, K., Ek, J., & Brondum-Nielsen, K. (2007) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-2-43 · Cited by 569 · 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
Self-citationPalmer, J. S., Duffy, D. L., Box, N. F., Aitken, J. F., O'Gorman, L. E., Green, A. C., Hayward, N. K., Martin, N. G., & Sturm, R. A. (2000) · The American Journal of Human Genetics · doi:10.1086/302711 · Cited by 503 · see citing works
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
Genetics of hair and skin color
Rees, J. L. (2003) · Annual Review of Genetics · doi:10.1146/annurev.genet.37.110801.143233 · Cited by 485 · see citing works
Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits
Eriksson, N., Macpherson, J. M., Tung, J. Y., Hon, L., Naughton, B., Saxonov, S., Avey, L., Wojcicki, A., Pe’er, I., & Mountain, J. L. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000993 · Cited by 480 · see citing works
Genetic evidence for the convergent evolution of light skin in Europeans and East Asians
Norton, H. L., Kittles, R. A., Parra, E., McKeigue, P., Mao, X., Cheng, K., Canfield, V. A., Bradley, D. G., McEvoy, B., & Shriver, M. D. (2006) · Molecular Biology and Evolution · doi:10.1093/molbev/msl203 · Cited by 410 · cited 2× · see citing works
“This is different from other studies that have full control of environmental light when using spectrophotometers (Norton et al. 2007; Stokowski et al. 2007; Edwards et al. 2010; Quillen et al. 2011) , in which the L dimension is the most useful in representing skin darkness.”
BackgroundTwo 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
New common variants affecting susceptibility to basal cell carcinoma
Stacey, S., Sulem, P., Másson, G., Gudjonsson, S. A., Þorleifsson, G., Jakobsdottir, M., Sigurðsson, Á., Gudbjartsson, D. F., Sigurgeirsson, B., Benediktsdóttir, K. R., et al. (2009) · Nature Genetics · doi:10.1038/ng.412 · Cited by 325 · see citing works
A Genomewide Association Study of Skin Pigmentation in a South Asian Population
Stokowski, R. P., Pant, P. V. K., Dadd, T., Fereday, A., Hinds, D. A., Jarman, C., Filsell, W., Ginger, R. S., Green, M. R., van der Ouderaa, F. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522235 · Cited by 315 · see citing works
The Rotterdam Study: 2012 objectives and design update
Albert Hofman, D., van Duijn, C. M., Franco, O. H., Ikram, M. A., Janssen, H. L. A., Klaver, C. C. W., Kuipers, E. J., Nijsten, T. E. C., Stricker, B. H. C., Tiemeier, H. W., et al. (2011) · European Journal of Epidemiology · doi:10.1007/s10654-011-9610-5 · Cited by 289 · see citing works
Self-citationThe Genetics of Sun Sensitivity in Humans
Rees, J. L. (2004) · The American Journal of Human Genetics · doi:10.1086/425285 · Cited by 288 · see citing works
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
Self-citationMOLECULAR AND DEVELOPMENTAL GENETICS OF MOUSE COAT COLOR
Jackson, I. J. (1994) · Annual Review of Genetics · doi:10.1146/annurev.ge.28.120194.001201 · Cited by 277 · see citing works
Kayser, M., & Schneider, P. (2009) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2009.01.012 · Cited by 261 · see citing works
Self-citationKayser, M., Liu, F., Janssens, A. C. J. W., Rivadeneira, F., Lao, O., van Duijn, K., Vermeulen, M., Arp, P., Jhamai, M. M., van IJcken, W. F. J., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.10.003 · Cited by 260 · see citing works
Self-citationLao, O., de Gruijter, J. M., van Duijn, K., Navarro, A., & Kayser, M. (2007) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2006.00341.x · Cited by 231 · see citing works
Self-citationDuffy, 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
Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians
Nan, H., Kraft, P., Hunter, D. J., & Han, J. (2009) · International Journal of Cancer · doi:10.1002/ijc.24327 · Cited by 205 · see citing works
Population studies on Gilbert's syndrome.
Owens, D., & Evans, J. (1975) · Journal of Medical Genetics · doi:10.1136/jmg.12.2.152 · Cited by 192 · 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
Self-citationSkin Color and Nutrient Photolysis: An Evolutionary Hypothesis
Branda, R. F., & Eaton, J. W. (1978) · Science · doi:10.1126/science.675247 · Cited by 185 · see citing works
Armstrong, B. K., Kricker, A., & English, D. R. (1997) · Australasian Journal of Dermatology · doi:10.1111/j.1440-0960.1997.tb01000.x · Cited by 179 · see citing works
Transcriptional control of T-cell development
Naito, T., Tanaka, H., Naoe, Y., & Taniuchi, I. (2011) · International Immunology · doi:10.1093/intimm/dxr078 · Cited by 168 · see citing works
Pharmacogenetics of Gilbert‘s Syndrome
Strassburg, C. P. (2008) · Pharmacogenomics · doi:10.2217/14622416.9.6.703 · Cited by 165 · see citing works
Hermansky–Pudlak Syndrome and Related Disorders of Organelle Formation
Huizing, M., Anikster, Y., & Gahl, W. A. (2000) · Traffic · doi:10.1034/j.1600-0854.2000.011103.x · Cited by 160 · see citing works
Ginger, R. S., Askew, S. E., Ogborne, R. M., Wilson, S., Ferdinando, D., Dadd, T., Smith, A. M., Kazi, S., Szerencsei, R. T., Winkfein, R. J., et al. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m707521200 · Cited by 158 · see citing works
The Cutaneous Vascular System in Chronic Skin Inflammation
Huggenberger, R., & Detmar, M. J. (2011) · Journal of Investigative Dermatology Symposium Proceedings · doi:10.1038/jidsymp.2011.5 · Cited by 157 · see citing works
McEvoy, B., Beleza, S., & Shriver, M. D. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl217 · Cited by 148 · see citing works
Genome-Wide Association Study of Tanning Phenotype in a Population of European Ancestry
Nan, H., Kraft, P., Qureshi, A. A., Guo, Q., Chen, C., Hankinson, S. E., Hu, F. B., Thomas, G. D., Hoover, R. N., Chanock, S. J., et al. (2009) · Journal of Investigative Dermatology · doi:10.1038/jid.2009.62 · Cited by 139 · see citing works
Predicting Phenotype from Genotype: Normal Pigmentation
Valenzuela, R. K., Henderson, M. S., Walsh, M. H., Garrison, N. A., Kelch, J., Cohen-Barak, O., Erickson, D. T., Meaney, F., Walsh, J. B., Cheng, K. C., et al. (2010) · Journal of Forensic Sciences · doi:10.1111/j.1556-4029.2009.01317.x · Cited by 131 · see citing works
Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2
Soejima, M., & Koda, Y. (2006) · International Journal of Legal Medicine · doi:10.1007/s00414-006-0112-z · Cited by 128 · see citing works
Edwards, M., Bigham, A., Tan, J., Li, S., Gozdzik, A., Ross, K., Jin, L., & Parra, E. J. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000867 · Cited by 128 · see citing works
Sexual selection as a cause of human skin colour variation: Darwin's hypothesis revisited
Aoki, K. (2002) · Annals of Human Biology · doi:10.1080/0301446021000019144 · Cited by 127 · see citing works
Yamamoto, T., Takiwaki, H., Arase, S., & Ohshima, H. (2007) · Skin Research and Technology · doi:10.1111/j.1600-0846.2007.00256.x · Cited by 120 · see citing works
A portable reflectometer for the rapid quantification of cutaneous haemoglobin and melanin
Feather, J. W., Ellis, D. J., & Leslie, G. (1988) · Physics in Medicine and Biology · doi:10.1088/0031-9155/33/6/005 · Cited by 101 · see citing works
Kurek, D., Garinis, G. A., van Doorninck, J. H., van der Wees, J., & Grosveld, F. G. (2006) · Development · doi:10.1242/dev.02721 · Cited by 97 · see citing works
Harvey, I. M., Frankel, S., Marks, R., Shalom, D., & Nolan-Farrell, M. (1996) · British Journal of Cancer · doi:10.1038/bjc.1996.535 · Cited by 91 · see citing works
Basonuclin-2 requirements for zebrafish adult pigment pattern development and female fertility
Lang, M. R., Patterson, L. B., Gordon, T. N., Johnson, S. L., & Parichy, D. M. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000744 · Cited by 86 · see citing works
Quillen, E. E., Bauchet, M., Bigham, A. W., Delgado, M., Faust, F. X., Klimentidis, Y. C., Mao, X., Stoneking, M., & Shriver, M. D. (2011) · Human Genetics · doi:10.1007/s00439-011-1135-1 · Cited by 56 · see citing works
A twin study of skin reflectance
Clark, P., Stark, A. E., Walsh, R. J., Jardine, R., & Martin, N. G. (1981) · Annals of Human Biology · doi:10.1080/03014468100005371 · Cited by 55 · see citing works
Rácz, E., Kurek, D., Kant, M., Baerveldt, E. M., Florencia, E. F., Mourits, S., de Ridder, D., Laman, J. D., van der Fits, L., & Prens, E. P. (2011) · PLoS ONE · doi:10.1371/journal.pone.0019806 · Cited by 48 · see citing works
Odeberg, J. M., Andrade, J., Holmberg, K. H., Hoglund, P., Malmqvist, U., & Odeberg, J. (2006) · European Journal of Clinical Pharmacology · doi:10.1007/s00228-006-0166-3 · Cited by 36 · see citing works
Genomic anatomy of the Tyrp1 (brown) deletion complex
Smyth, I., Wilming, L. G., Lee, A., Taylor, M. S., Gautier, P., Barlow, K. F., Wallis, J., Martin, S., Glithero, R., Phillimore, B., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0600199103 · Cited by 32 · 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
Self-citationHwang, D. Y. (2011) · International Journal of Molecular Medicine · doi:10.3892/ijmm.2011.685 · Cited by 11 · see citing works
SLC24A5: exchanging genetic and biochemical knowledge
Quillen, E. E., & Shriver, M. D. (2008) · Pigment Cell & Melanoma Research · doi:10.1111/j.1755-148x.2008.00456.x · Cited by 4 · see citing works
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Resurrecting Surviving Neandertal Lineages from Modern Human Genomes
Vernot, B., & Akey, J. M. (2014) · Science · doi:10.1126/science.1245938 · Cited by 562 · see citing works
Evidence for archaic adaptive introgression in humans
Racimo, F., Sankararaman, S., Nielsen, R., & Huerta-Sánchez, E. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3936 · Cited by 521 · see citing works
Ruiz-Linares, A., Adhikari, K., Acuña-Alonzo, V., Quinto-Sanchez, M., Jaramillo, C., Arias, W., Fuentes, M., Pizarro, M., Everardo, P., de Avila, F., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004572 · Cited by 442 · see citing works
“An exception is pigmentation, which has been the focus of considerable research, particularly in Europeans [1–4].”
BackgroundKayser, M. (2015) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2015.02.003 · Cited by 447 · see citing works
Self-citationThe 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
Self-citationThe 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
Self-citationThe 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
Self-citationDel Bino, S., Duval, C., & Bernerd, F. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19092668 · Cited by 315 · see citing works
Leslie, R., O’Donnell, C. J., & Johnson, A. D. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu273 · Cited by 255 · see citing works
Signatures of Archaic Adaptive Introgression in Present-Day Human Populations
Racimo, F., Marnetto, D., & Huerta-Sánchez, E. (2016) · Molecular Biology and Evolution · doi:10.1093/molbev/msw216 · Cited by 200 · see citing works
The Contribution of Neanderthals to Phenotypic Variation in Modern Humans
Dannemann, M., & Kelso, J. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.09.010 · Cited by 193 · see citing works
“Using the UK Biobank cohort, we have now been able to test the contribution of introgressed Neanderthal alleles to 136 common, largely non-disease phenotypes in present-day Europeans.”
InfluentialSelection Signatures in Worldwide Sheep Populations
Fariello, M. I., Servin, B., Tosser‐Klopp, G., Rupp, R., Moreno‐Romieux, C., SanCristobal, M., & Boitard, S. (2014) · PLoS ONE · doi:10.1371/journal.pone.0103813 · Cited by 181 · see citing works
Liu, F., Visser, M., Duffy, D. L., Hysi, P. G., Jacobs, L. C., Lao, O., Zhong, K., Walsh, S., Chaitanya, L., Wollstein, A., et al. (2015) · Human Genetics · doi:10.1007/s00439-015-1559-0 · Cited by 172 · 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
Jacobs, L. C., Hamer, M. A., Gunn, D., Deelen, J., Lall, J., van Heemst, D., Uh, H., Hofman, A., Uitterlinden, A., Griffiths, C., et al. (2015) · Journal of Investigative Dermatology · doi:10.1038/jid.2015.62 · Cited by 147 · see citing works
Self-citationSun‐induced freckling: ephelides and solar lentigines
Praetorius, C., Sturm, R. A., & Steingrı́msson, E. (2014) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12232 · Cited by 115 · see citing works
Development 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 100 · see citing works
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 · see citing works
Self-citationSex chromosome inversions enforce reproductive isolation across an avian hybrid zone
Hooper, D. M., Griffith, S. C., & Price, T. D. (2018) · Molecular Ecology · doi:10.1111/mec.14874 · Cited by 94 · 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
Teruel, B. M., Parra, E. J., Fuentes-Smith, E., Salas, A., Buttenschøn, H. N., Demontis, D., Torres, M. L., Padrón, L. C. M., Gómez-Cabezas, E. J., Álvarez‐Iglesias, V., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004488 · Cited by 93 · 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
Circular RNA Expression in Basal Cell Carcinoma
Sand, M. S., Bechara, F. G., Sand, D., Gambichler, T., Hahn, S. A., Bromba, M., Stockfleth, E., & Hessam, S. (2016) · Epigenomics · doi:10.2217/epi-2015-0019 · Cited by 85 · see citing works
Quantifying the contribution of Neanderthal introgression to the heritability of complex traits
McArthur, E., Rinker, D. C., & Capra, J. A. (2021) · Nature Communications · doi:10.1038/s41467-021-24582-y · Cited by 71 · 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
Self-citationThe contribution of Neanderthal introgression to modern human traits
Reilly, P. F., Tjahjadi, A., Miller, S. L., Akey, J. M., & Tucci, S. (2022) · Current Biology · doi:10.1016/j.cub.2022.08.027 · Cited by 80 · see citing works
Single Nucleotide Polymorphism
Børsting, C., Pereira, V., Andersen, J. D., & Morling, N. (2014) · Wiley eBooks · doi:10.1002/9780470061589.fsa1113 · Cited by 84 · see citing works
Small Amounts of Archaic Admixture Provide Big Insights into Human History
Vattathil, S., & Akey, J. M. (2015) · Cell · doi:10.1016/j.cell.2015.09.042 · Cited by 74 · see citing works
Signatures of archaic adaptive introgression in present-day human populations
Racimo, F., Marnetto, D., & Huerta-Sánchez, E. (2016) · doi:10.1101/045237 · Cited by 200 · 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
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 · see citing works
Self-citationRaveane, A., Aneli, S., Montinaro, F., Athanasiadis, G. I., Barlera, S., Birolo, G., Boncoraglio, G. B., Blasio, A. M. D., Gaetano, C. D., Pagani, L., et al. (2019) · Science Advances · doi:10.1126/sciadv.aaw3492 · Cited by 69 · see citing works
Neanderthal ancestry through time: Insights from genomes of ancient and present-day humans
Iasi, L. N. M., Chintalapati, M., Skov, L., Mesa, A. B., Hajdinjak, M., Peter, B. M., & Moorjani, P. (2024) · Science · doi:10.1126/science.adq3010 · Cited by 58 · 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
Self-citationHider, J., Gittelman, R. M., Shah, T., Edwards, M., Rosenbloom, A., Akey, J. M., & Parra, E. J. (2013) · BMC Evolutionary Biology · doi:10.1186/1471-2148-13-150 · Cited by 55 · see citing works
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 53 · see citing works
Self-citationMidbrain Dopaminergic Neuron Development at the Single Cell Level: In vivo and in Stem Cells
Ásgrímsdóttir, E. S., & Arenas, E. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.00463 · Cited by 51 · 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
Structural variant landscapes reveal convergent signatures of evolution in sheep and goats
Yang, J. H., Wang, D.-F., Huang, J.-H., Zhu, Q., Luo, L.-Y., Lu, R., Xie, X.-L., Salehian-Dehkordi, H., Esmailizadeh, A., Liu, G. E., et al. (2024) · Genome biology · doi:10.1186/s13059-024-03288-6 · Cited by 49 · see citing works
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 · see citing works
Self-citationMajor transitions in human evolution revisited: A tribute to ancient DNA
Ermini, L., Sarkissian, C. S. I. D., Willerslev, E., & Orlando, L. (2014) · Journal of Human Evolution · doi:10.1016/j.jhevol.2014.06.015 · Cited by 37 · see citing works
Hernando, B., Ibáñez, M., Deserio-Cuesta, J. A., Soria-Navarro, R., Vilar-Sastre, I., & Martínez-Cadenas, C. (2018) · Forensic Science International: Genetics · doi:10.1016/j.fsigen.2017.11.013 · Cited by 34 · see citing works
Genetic variants associated with skin aging in the Chinese Han population
Gao, W., Tan, J., Hüls, A., Ding, A., Liu, Y., Matsui, M. S., Vierkötter, A., Krutmann, J., Schikowski, T., Li, J., et al. (2016) · Journal of Dermatological Science · doi:10.1016/j.jdermsci.2016.12.017 · Cited by 31 · 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
Wu, J., Lin, Z., Chen, G., Luo, Q., Nie, Q., Zhang, X., & Luo, W. (2021) · Frontiers in Physiology · doi:10.3389/fphys.2021.585089 · Cited by 31 · see citing works
Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility Locus
Buckley, M. A., Woods, N. T., Tyrer, J. P., Mendoza-Fandiño, G., Lawrenson, K., Hazelett, D. J., Najafabadi, H. S., Gjyshi, A., Carvalho, R. S., Junior, P. C. M. L., et al. (2018) · Cancer Research · doi:10.1158/0008-5472.can-17-3864 · Cited by 29 · 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
How well do we understand the basis of classic selective sweeps in humans?
Szpak, M., Xue, Y., Ayub, Q., & Tyler‐Smith, C. (2019) · FEBS Letters · doi:10.1002/1873-3468.13447 · Cited by 23 · see citing works
Inferring positive selection in humans from genomic data
Wollstein, A., & Stephan, W. (2015) · Investigative Genetics · doi:10.1186/s13323-015-0023-1 · Cited by 22 · see citing works
Self-citationErnst, M., Jønsson, K. A., Ericson, P. G. P., Blom, M. P. K., & Irestedt, M. (2022) · Heredity · doi:10.1038/s41437-022-00499-0 · Cited by 21 · 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
GWAS Identifies Multiple Genetic Loci for Skin Color in Korean Women
Seo, J. Y., You, S. W., Shin, J., Kim, Y., Park, S. G., Won, H., & Kang, N. G. (2021) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2021.08.440 · Cited by 21 · see citing works
Genomic insights into shank and eggshell color in Italian local chickens
Perini, F., Cendron, F., Lasagna, E., Cassandro, M., & Penasa, M. (2024) · Poultry Science · doi:10.1016/j.psj.2024.103677 · Cited by 18 · see citing works
Evolutionary triangulation: informing genetic association studies with evolutionary evidence
Huang, M., Graham, B. E., Zhang, G., Harder, R., Kodaman, N. M., Moore, J. H., Muglia, L. J., & Williams, S. M. (2016) · BioData Mining · doi:10.1186/s13040-016-0091-7 · Cited by 19 · 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
Genetic basis for skin youthfulness
Flood, K. S., Houston, N., Savage, K. T., & Kimball, A. B. (2019) · Clinics in Dermatology · doi:10.1016/j.clindermatol.2019.04.007 · Cited by 18 · see citing works
Lindqvist, P. G., Epstein, E., Landin‐Olsson, M., Åkerlund, M., & Olsson, H. L. (2020) · PLoS ONE · doi:10.1371/journal.pone.0228582 · Cited by 16 · see citing works
Epigenetics insights from perceived facial aging
Vladimir, K., Perišić, M. M., Štorga, M., Mostashari, A., & Khanin, R. (2023) · Clinical Epigenetics · doi:10.1186/s13148-023-01590-x · Cited by 19 · see citing works
The relationship between sun exposure and all-cause mortality
Lindqvist, P. G., & Landin‐Olsson, M. (2016) · Photochemical & Photobiological Sciences · doi:10.1039/c6pp00316h · Cited by 16 · see citing works
Raveane, A., Aneli, S., Montinaro, F., Athanasiadis, G. I., Barlera, S., Birolo, G., Boncoraglio, G. B., Blasio, A. M. D., Gaetano, C. D., Pagani, L., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/494898 · Cited by 16 · 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
Basonuclin-2 regulates extracellular matrix production and degradation
Orang, A., Dredge, B. K., Liu, C. Y., Bracken, J. M., Chen, C., Sourdin, L., Whitfield, H. J., Lumb, R., Boyle, S. T., Davis, M. J., et al. (2023) · Life Science Alliance · doi:10.26508/lsa.202301984 · Cited by 15 · 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
Self-citationEfficient 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 · see citing works
Forensic DNA phenotyping: A promising tool to aid forensic investigation. Current situation
Serrano, A. C. (2020) · Revista Española de Medicina Legal · doi:10.1016/j.remle.2020.01.002 · Cited by 15 · see citing works
Human Evolution: Genomic Gifts from Archaic Hominins
Vernot, B., & Akey, J. M. (2014) · Current Biology · doi:10.1016/j.cub.2014.07.079 · Cited by 13 · see citing works
Markiewicz, E., & Idowu, O. C. (2022) · Clinical Cosmetic and Investigational Dermatology · doi:10.2147/ccid.s383790 · Cited by 12 · see citing works
Perceived skin colour seems a swift, valid and reliable measurement
Jacobs, L. C., Hamer, M. A., Verkouteren, J. A. C., Pardo, L. M., Liu, F., & Nijsten, T. E. C. (2015) · British Journal of Dermatology · doi:10.1111/bjd.13888 · Cited by 12 · see citing works
Self-citationDissecting dynamics and differences of selective pressures in the evolution of human pigmentation
Huang, X., Wang, S., Li, J., & He, Y. (2021) · Biology Open · doi:10.1242/bio.056523 · Cited by 12 · see citing works
Xiong, Z., Li, Y., Liu, X., Lu, H., Hysi, P. G., Pardo, L. M., Uitterlinden, A. G., Rivadeneira, F., Ikram, M. A., Ghanbari, M., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-61761-7 · Cited by 10 · see citing works
Self-citationWu, M., Cao, Y. L., Liu, Y., Ma, L., & Yang, X. R. (2016) · American Journal of Therapeutics · doi:10.1097/mjt.0000000000000429 · Cited by 10 · see citing works
Resurrecting Surviving Neandertal Lineages from Modern Human
Vernot, B., & Akey, J. M. (2014) · Cited by 11 · see citing works
Andersen, J. D., Meyer, O., Simão, F., Jannuzzi, J., Carvalho, E., Andersen, M. M., Pereira, V., Børsting, C., Morling, N., & Gusmão, L. (2020) · Zeitschrift für Rechtsmedizin · doi:10.1007/s00414-020-02307-y · Cited by 6 · see citing works
Adaptation and co‐adaptation of skin pigmentation and vitamin D genes in native Americans
Missaggia, B. O., Reales, G., Cybis, G. B., Hünemeier, T., & Bortolini, M. C. (2020) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31873 · Cited by 7 · see citing works
Whole genome scan reveals the multigenic basis of recent tidal marsh adaptation in a sparrowPreprint
Deane‐Coe, P. E., Butcher, B. G., Greenberg, R., & Lovette, I. J. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/360008 · Cited by 7 · see citing works
Evolution of Pigment Pattern Formation in Teleosts
Parichy, D. M., & Liang, Y. (2021) · Springer eBooks · doi:10.1007/978-981-16-1490-3_10 · Cited by 6 · see citing works
Disentangling archaic introgression and genomic signatures of selection at human immunity genes
Urnikytė, A., Masiulyte, A., Pranckėnienė, L., & Kučinskas, V. (2023) · Infection Genetics and Evolution · doi:10.1016/j.meegid.2023.105528 · Cited by 5 · see citing works
MC1R diversity and its role in skin pigmentation variation in West Maharashtra, India
Jonnalagadda, M., Bharti, N., Kasibhatla, S. M., Wagh, M. A., Joshi, R., Ozarkar, S., & Ashma, R. (2022) · American Journal of Human Biology · doi:10.1002/ajhb.23734 · Cited by 5 · see citing works
Dynamic clustering of genomics cohorts beyond race, ethnicity—and ancestry
Mohsen, H., Blenman, K., Emani, P. S., Morris, Q., Carrot‐Zhang, J., & Pusztai, L. (2025) · BMC Medical Genomics · doi:10.1186/s12920-025-02154-z · Cited by 3 · see citing works
BR-FDP-EYE: Brazilian Forensic DNA eye phenotyping
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 · see citing works
Kikuchi, K., Katsuyama, M., Yoshikawa, T., Wakeshima, N., & Iizuka, H. (2022) · The Journal of Dermatology · doi:10.1111/1346-8138.16561 · Cited by 3 · see citing works
Prediction of Human Pigmentation Traits from DNA Polymorphisms
Branicki, W., & Kayser, M. (2015) · Wiley eBooks · doi:10.1002/9780470015902.a0023851 · Cited by 4 · see citing works
Self-citationDissecting 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 · see citing works
Bose, A., Sengupta, M., Maitra, S., Bandyopadhyay, A. R., & Schaschl, H. (2026) · Frontiers in Genetics · doi:10.3389/fgene.2026.1870791 · Cited by 2 · see citing works
Candidate genes underlying hypomelanistic morphs in squamate reptiles
Beaudier, P., Ullate‐Agote, A., & Tzika, A. C. (2025) · Genetics · doi:10.1093/genetics/iyaf236 · Cited by 2 · see citing works
Ancient DNA research reveals a new environmental adaptation profile in human populations
LinDan, J. I., Yao, B.-B., JiYi, L. I., Xu, J., & Zhang, Y. (2017) · Chinese Science Bulletin (Chinese Version) · doi:10.1360/n972016-00917 · Cited by 1 · see citing works
Moon, H., Kim, M., Sim, H., Hong, S., Jeon, H., Cho, J., & Choi, M. (2025) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2025.02.130 · Cited by 1 · see citing works
BNC2 in Development and Disease: Regulatory Mechanisms and Translational Implications
Wei, X., Du, Y., Liu, X., & Zhang, L. E. (2026) · Molecules · doi:10.3390/molecules31122088 · Cited by 1 · see citing works
Serrano, A. C. (2020) · Revista Española de Medicina Legal · doi:10.1016/j.reml.2020.01.003 · Cited by 1 · see citing works
Pflugbeil, A.-M., Thiele, K., & Labudde, D. (2017) · Springer eBooks · doi:10.1007/978-3-662-53801-2_4 · Cited by 1 · see citing works
Marano, L., Simões, A., Donadi, E. A., & Mendes-Júnior, C. T. (2013) · Saúde Ética & Justiça · doi:10.11606/issn.2317-2770.v18ispep55-61 · Cited by 1 · see citing works
Àgora de salut vol. VII (número complet)
varios, A. (2020) · Àgora de salut · doi:10.6035/agorasalut.2020.7 · Cited by 1 · see citing works
Forensic DNA phenotyping and massive parallel sequencing
Breslin, K. (2017) · Purdue e-Pubs (Purdue University System) · doi:10.7912/c29d3h
Gil‐Barrachina, M., Hernando, B., & Martínez‐Cadenas, C. (2020) · Àgora de salut · doi:10.6035/agorasalut.2020.7.12
Molecular biomarkers of skin aging and cosmetic
Martinhago, A. C. (2023) · Revista Científica de Estética e Cosmetologia · doi:10.48051/rcec.v3i1.88
Uncovering the genetic drivers of cutaneous melanoma and its risk factors
Ingold, N. (2024) · Queensland University of Technology · doi:10.5204/thesis.eprints.247498
Additional file 4 of Epigenetics insights from perceived facial aging
Vladimir, K., Perišić, M. M., Štorga, M., Mostashari, A., & Khanin, R. (2024) · Figshare · doi:10.6084/m9.figshare.26635374
Additional file 1 of Epigenetics insights from perceived facial aging
Vladimir, K., Perišić, M. M., Štorga, M., Mostashari, A., & Khanin, R. (2024) · Figshare · doi:10.6084/m9.figshare.26635365
Additional file 5 of Epigenetics insights from perceived facial aging
Vladimir, K., Perišić, M. M., Štorga, M., Mostashari, A., & Khanin, R. (2024) · Figshare · doi:10.6084/m9.figshare.26635377
- Authors
- Jacobs, L. C., Wollstein, A., Lao, O., Hofman, A., Klaver, C. C., Uitterlinden, A. G., Nijsten, T., Kayser, M., & Liu, F.
- Affiliations
- Erasmus MC (NL)
- Leiden University Medical Center (NL)
- Corresponding author
- Liu, Fan
- ORCID
- Venue
- Human Genetics
- Published
- 2012-10-11
- Volume
- 132
- Issue
- 2
- Pages
- 147-158
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- 1432-1203
- OpenAlex
- W2080521432
- Cited by
- 99
- References
- 59
- Citations by year
- 2026: 4 · 2025: 6 · 2024: 5 · 2023: 4 · 2022: 7 · 2021: 5 · 2020: 11 · 2019: 6 · 2018: 8 · 2017: 7 · 2016: 7 · 2015: 11 · 2014: 14 · 2013: 4
- FWCI
- 4.39
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- 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 pigmentation, UGT1A, BNC2, single nucleotide polymorphisms, skin cancer risk, HERC2, MC1R, IRF4, TYR, OCA2, ASIP
- MeSH terms
- UGT1A1 Enzyme, Aged, DNA-Binding Proteins, Female, Humans, Male, Phenotype, Skin Pigmentation, Glucuronosyltransferase, Polymorphism, Single Nucleotide, White People, Genetic Association Studies
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