A genome-wide association study identifies the skin color genes IRF4, MC1R, ASIP, and BNC2 influencing facial pigmented spots

Journal of Investigative Dermatology

Volumn 135, Issue 7, 2015, Pages 1735-1742

  Jacobs, Leonie C ^a,b   Hamer, Merel A ^a,b   Gunn, David A ^c   Deelen, Joris ^b,d   Lall, Jaspal S ^c   Van Heemst, Diana ^d   Uh, Hae Won ^d   Hofman, Albert ^a   Uitterlinden, André G ^a,b   Griffiths, Christopher E M ^e   Beekman, Marian ^b,d   Slagboom, P Eline ^b,d   Kayser, Manfred ^a   Liu, Fan ^a   Nijsten, Tamar ^a,b  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b Netherlands Genomics Initiative   (Netherlands)

^c UNILEVER RESEARCH   (United Kingdom)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BASONUCLIN; INTERFERON REGULATORY FACTOR 4; MELANIN; AGOUTI PROTEIN; ASIP PROTEIN, HUMAN; BNC2 PROTEIN, HUMAN; DNA BINDING PROTEIN; INTERFERON REGULATORY FACTOR; INTERFERON REGULATORY FACTOR-4; MELANOCORTIN 1 RECEPTOR;

ADULT; AGED; AGING; ARTICLE; ASIP GENE; AUTOMATION; CANCER RISK; FEMALE; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; IMAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MC1R GENE; MEDICAL PHOTOGRAPHY; MELANOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SCORING SYSTEM; SKIN CANCER; SKIN COLOR; SKIN PIGMENTATION; COHORT ANALYSIS; EPIDEMIOLOGY; GENETIC PREDISPOSITION; GENETICS; MELANOSIS; MIDDLE AGED; NETHERLANDS; PHOTOGRAPHY; PIGMENTED NEVUS; PROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; SKIN DISEASE; SKIN TUMOR;

AGOUTI SIGNALING PROTEIN; COHORT STUDIES; DNA-BINDING PROTEINS; FACIAL DERMATOSES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTERFERON REGULATORY FACTORS; MALE; MELANOSIS; MIDDLE AGED; NETHERLANDS; NEVUS, PIGMENTED; PHENOTYPE; PHOTOGRAPHY; PROSPECTIVE STUDIES; RECEPTOR, MELANOCORTIN, TYPE 1; SENSITIVITY AND SPECIFICITY; SKIN NEOPLASMS; SKIN PIGMENTATION;

EID: 84931564414     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2015.62     Document Type: Article

References (53)

1. Ackerman AB, Ragaz A (1984) The Lives of Lesions. New York USA: Masson Publishing April CS
2. Barsh GS (2007) Distinct pigmentary and melanocortin 1 receptordependent components of cutaneous defense against ultraviolet radiation. PLoS Genet 3:e9
3. Bastiaens M, Hoefnagel J, Westendorp R, et al. (2004) Solar lentigines are strongly related to sun exposure in contrast to ephelides. Pigment Cell Res 17:225-9
4. Bastiaens M, ter Huurne J, Gruis N, et al. (2001a) The melanocortin-1-receptor gene is the major freckle gene. Hum Mol Genet 10:1701-8
5. Bastiaens MT, ter Huurne JA, Kielich C, et al. (2001b) Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair. Am J Hum Genet 68:884-94
6. Bishop DT, Demenais F, Iles MM, et al. (2009) Genome-wide association study identifies three loci associated with melanoma risk. Nat Genet 41:920-5
7. Brown KM, Macgregor S, Montgomery GW, et al. (2008) Common sequence variants on 20q11.22 confer melanoma susceptibility. Nat Genet 40: 838-40
8. Castanet J, Ortonne JP (1997) Pigmentary changes in aged and photoaged skin. Arch Dermatol 133:1296-9
9. Chung JH, Lee SH, Youn CS, et al. (2001) Cutaneous photodamage in Koreans: influence of sex, sun exposure, smoking, and skin color. Arch Dermatol 137:1043-51
10. DiGiovanna JJ, Kraemer KH (2012) Shining a light on xeroderma pigmentosum. J Investig Dermatol Symp Proc 132:785-96
11. Dubin N, Pasternack BS, Moseson M (1990) Simultaneous assessment of risk factors for malignant melanoma and non-melanoma skin lesions, with emphasis on sun exposure and related variables. Int J Epidemiol 19: 811-9
12. Eriksson N, Macpherson JM, Tung JY, et al. (2010) Web-based, participantdriven studies yield novel genetic associations for common traits. PLoS Genet 6:e1000993
13. Ezzedine K, Mauger E, Latreille J, et al. (2012) Freckles and solar lentigines have different risk factors in Caucasian women. J Eur Acad Dermatol Venereol 27:e345-56
14. Genomes Project C, Abecasis GR, Auton A, et al. (2012) An integrated map of genetic variation from 1, 092 human genomes. Nature 491:56-65
15. Green A, Battistutta D, Hart V, et al. (1994) The nambour skin cancer and actinic eye disease prevention trial: design and baseline characteristics of participants. Control Clin Trials 15:512-22
16. Griffiths CE, Wang TS, Hamilton TA, et al. (1992) A photonumeric scale for the assessment of cutaneous photodamage. Arch Dermatol 128:347-51
17. Guinot C, Malvy DJ, Ambroisine L, et al. (2002) Relative contribution of intrinsic vs extrinsic factors to skin aging as determined by a validated skin age score. Arch Dermatol 138:1454-60
18. Gunn DA, de Craen AJ, Dick JL, et al. (2013) Facial appearance reflects human familial longevity and cardiovascular disease risk in healthy individuals. J Gerontol A Biol Sci Med Sci 68:145-52
19. Gunn DA, Rexbye H, Griffiths CE, et al. (2009) Why some women look young for their age. PLoS One 4:e8021
20. Hamer MA, Jacobs LC, Lall JS, et al. (2014) New validated image analysis techniques to measure skin ageing features present in facial photographs. In press Skin Res Technol.; e-pub ahead of print Jan 20 2015 (doi: 10.1111/srt.12205
21. Han J, Kraft P, Colditz GA, et al. (2006) Melanocortin 1 receptor variants and skin cancer risk. Int J Cancer 119:1976-84
22. Han J, Kraft P, Nan H, et al. (2008) A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS Genet 4:e1000074
23. Han J, Qureshi AA, Nan H, et al. (2011) A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus. Cancer Res 71: 1533-9
24. Hauser JE, Kadekaro AL, Kavanagh RJ, et al. (2006) Melanin content and MC1R function independently affect UVR-induced DNA damage in cultured human melanocytes. Pigment Cell Res 19:303-14
25. Hofman A, Darwish Murad S, van Duijn CM, et al. (2013) The Rotterdam Study: 2014 objectives and design update. Eur J Epidemiol 28:889-926
26. Jacobs LC, Liu F, Bleyen I, et al. (2014) Intrinsic and extrinsic risk factors for sagging eyelids. JAMA Dermatol 150:836-43
27. Jacobs LC, Wollstein A, Lao O, et al. (2013) Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans. Hum Genet 132:147-58
28. Kayser M, Liu F, Janssens AC, et al. (2008) Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am J Hum Genet 82:411-23
29. Kosiniak-Kamysz A, Pospiech E, Wojas-Pelc A, et al. (2012) Potential association of single nucleotide polymorphisms in pigmentation genes with the development of basal cell carcinoma. J Dermatol 39:693-8
30. Kricker A, Armstrong BK, English DR, et al. (1991) Pigmentary and cutaneous risk factors for non-melanocytic skin cancer-A case-control study. Int J Cancer 48:650-62
31. Lango Allen H, Estrada K, Lettre G, et al. (2010) Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467:832-8
32. Le Clerc S, Taing L, Ezzedine K, et al. (2013) A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging. J Investig Dermatol Symp Proc 133:929-35
33. Li Y, Willer CJ, Ding J, et al. (2010) MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 34: 816-34
34. Liu F, Struchalin MV, Duijn K, et al. (2011) Detecting low frequent loss-offunction alleles in genome wide association studies with red hair color as example. PLoS One 6:e28145
35. Liu F, Wen B, Kayser M (2013) Colorful DNA polymorphisms in humans. Semin Cell Dev Biol 24:562-75
36. Maize JC, Foster G (1979) Age-related changes in melanocytic naevi. Clin Exp Dermatol 4:49-58
37. Monestier S, Gaudy C, Gouvernet J, et al. (2006) Multiple senile lentigos of the face, a skin ageing pattern resulting from a life excess of intermittent sun exposure in dark-skinned caucasians: a case-control study. Br J Dermatol 154:438-44
38. Nan H, Kraft P, Qureshi AA, et al. (2009) Genome-wide association study of tanning phenotype in a population of European ancestry. J Investig Dermatol Symp Proc 129:2250-7
39. Nan H, Xu M, Kraft P, et al. (2011) Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma. Hum Mol Genet 20:3718-24
40. Ortonne JP (1990) Pigmentary changes of the ageing skin. Br J Dermatol 122 (Suppl 35):21-8
41. Pasquali E, Garcia-Borron JC, Fargnoli MC, et al. (2014) MC1R variants increased the risk of sporadic cutaneous melanoma in darker-pigmented Caucasians: a pooled-Analysis from the M-SKIP project. Int J Cancer 136: 618-31
42. Purcell S, Neale B, Todd-Brown K, et al. (2007) PLINK: a tool set for wholegenome association and population-based linkage analyses. Am J Hum Genet 81:559-75
43. Schoenmaker M, de Craen AJ, de Meijer PH, et al. (2006) Evidence of genetic enrichment for exceptional survival using a family approach: the Leiden Longevity Study. Eur J Hum Genet 14:79-84
44. Stacey SN, Sulem P, Masson G, et al. (2009) New common variants affecting susceptibility to basal cell carcinoma. Nat Genet 41:909-14
45. Sulem P, Gudbjartsson DF, Stacey SN, et al. (2008) Two newly identified genetic determinants of pigmentation in Europeans. Nat Genet 40: 835-7
46. Sulem P, Gudbjartsson DF, Stacey SN, et al. (2007) Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet 39:1443-52
47. Suppa M, Elliott F, Mikeljevic JS, et al. (2011) The determinants of periorbital skin ageing in participants of a melanoma case-control study in the U.K. Br J Dermatol 165:1011-21
48. Uh HW, Deelen J, Beekman M, et al. (2012) How to deal with the early GWAS data when imputing and combining different arrays is necessary. Eur J Hum Genet 20:572-6
49. Vierkotter A, Kramer U, Sugiri D, et al. (2012) Development of lentigines in German and Japanese women correlates with variants in the SLC45A2 gene. J Investig Dermatol Symp Proc 132:733-6
50. Vierkotter A, Ranft U, Kramer U, et al. (2009) The SCINEXA: a novel, validated score to simultaneously assess and differentiate between intrinsic and extrinsic skin ageing. J Dermatol Sci 53:207-11
51. Wong SS, Ainger SA, Leonard JH, et al. (2012) MC1R variant allele effects on UVR-induced phosphorylation of p38, p53, and DDB2 repair protein responses in melanocytic cells in culture. J Investig Dermatol Symp Proc 132:1452-61
52. Wood AR, Esko T, Yang J, et al. (2014) Defining the role of common variation in the genomic and biological architecture of adult human height. Nat Genet 46:1173-86
53. Zhang M, Song F, Liang L, et al. (2013) Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. Hum Mol Genet 22: 2948-59