IRF4, MC1R and TYR genes are risk factors for actinic keratosis independent of skin color

Human Molecular Genetics

Volumn 24, Issue 11, 2014, Pages 3296-3303

  Jacobs, Leonie C ^a   Liu, Fan ^a   Pardo, Luba M ^a   Hofman, Albert ^a   Uitterlinden, André G ^a   Kayser, Manfred ^a   Nijsten, Tamar ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AGPAT9 PROTEIN; INTERFERON REGULATORY FACTOR 4; MELANOCORTIN 1 RECEPTOR; MONOPHENOL MONOOXYGENASE; PROTEIN; TRANSCRIPTION FACTOR NKX6.1; UNCLASSIFIED DRUG; INTERFERON REGULATORY FACTOR; INTERFERON REGULATORY FACTOR-4;

ACTINIC KERATOSIS; ADULT; AGED; ARTICLE; CHROMOSOME 4; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; EFFECT SIZE; FEMALE; GENE FREQUENCY; GENE INTERACTION; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HERITABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK FACTOR; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN COLOR; SKIN EXAMINATION; SPECTROPHOTOMETER; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; MIDDLE AGED; SKIN PIGMENTATION; VERY ELDERLY;

AGED; AGED, 80 AND OVER; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTERFERON REGULATORY FACTORS; KERATOSIS, ACTINIC; MALE; MIDDLE AGED; MONOPHENOL MONOOXYGENASE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, MELANOCORTIN, TYPE 1; RISK FACTORS; SKIN PIGMENTATION;

EID: 84930730324     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv076     Document Type: Article

References (48)

1. Mittelbronn, M.A., Mullins, D.L., Ramos-Caro, F.A. and Flowers, F.P. (1998) Frequency of pre-existing actinic keratosis in cutaneous squamous cell carcinoma. Int. J. Dermatol., 37, 677-681.
2. Marks, R., Rennie, G. and Selwood, T.S. (1988) Malignant transformation of solar keratoses to squamous cell carcinoma. Lancet, 1, 795-797.
3. Flohil, S.C., van der Leest, R.J., Dowlatshahi, E.A., Hofman, A., de Vries, E. and Nijsten, T. (2013) Prevalence of actinic keratosis and its risk factors in the general population: the rotterdam study. J. Invest. Dermatol., 133, 1971-1978.
4. Green, A., Beardmore, G., Hart, V., Leslie, D., Marks, R. and Staines, D. (1988) Skin cancer in a Queensland population. J. Am. Acad. Dermatol., 19, 1045-1052.
5. Memon, A.A., Tomenson, J.A., Bothwell, J. and Friedmann, P.S. (2000) Prevalence of solar damage and actinic keratosis in a Merseyside population. Br. J. Dermatol., 142, 1154-1159.
6. Naldi, L., Chatenoud, L., Piccitto, R., Colombo, P., Placchesi, E. B. and La Vecchia, C. and Prevalence of Actinic Keratoses Italian Study (PraKtis) Group. (2006) Prevalence of actinic keratoses and associated factors in a representative sample of the Italian adult population: results from the Prevalence of Actinic Keratoses Italian Study, 2003-2004. Arch. Dermatol., 142, 722-726.
7. Vasiljevic, N., Hazard, K., Dillner, J. and Forslund, O. (2008) Four novel human betapapillomaviruses of species 2 preferentially found in actinic keratosis. J. Gen. Virol., 89, 2467-2474.
8. Denny, J.C., Bastarache, L., Ritchie, M.D., Carroll, R.J., Zink, R., Mosley, J.D., Field, J.R., Pulley, J.M., Ramirez, A.H., Bowton, E. et al. (2013) Systematic comparison of phenome-wide association study of electronic medical record data and genomewide association study data. Nat. Biotechnol., 31, 1102-1110.
9. 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) A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. PLoS. Genet., 4, e1000074.
10. Beaumont, K.A., Shekar, S.N., Newton, R.A., James, M.R., Stow, J.L., Duffy, D.L. and Sturm, R.A. (2007) Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles. Hum. Mol. Genet., 16, 2249-2260.
11. 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) Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat. Genet., 39, 1443-1452.
12. Jacobs, L.C., Wollstein, A., Lao, O., Hofman, A., Klaver, C.C., Uitterlinden, A.G., Nijsten, T., Kayser, M. and Liu, F. (2013) Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans. Hum. Genet., 132, 147-158.
13. 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) Two newly identified genetic determinants of pigmentation in Europeans. Nat. Genet., 40, 835-837.
14. Global Lipids Genetics, C.,Willer, C.J., Schmidt, E.M., Sengupta, S., Peloso, G.M., Gustafsson, S., Kanoni, S., Ganna, A., Chen, J., Buchkovich, M.L. et al. (2013) Discovery and refinement of loci associated with lipid levels. Nat. Genet., 45, 1274-1283.
15. Lango Allen, H., Estrada, K., Lettre, G., Berndt, S.I.,Weedon, M. N., Rivadeneira, F., Willer, C.J., Jackson, A.U., Vedantam, S., Raychaudhuri, S. et al. (2010) Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature, 467, 832-838.
16. Liu, F., Struchalin, M.V., Duijn, K., Hofman, A., Uitterlinden, A. G., Duijn, C., Aulchenko, Y.S. and Kayser, M. (2011) Detecting low frequent loss-of-function alleles in genome wide association studies with red hair color as example. PLoS One, 6, e28145.
17. Eriksson, N., Macpherson, J.M., Tung, J.Y., Hon, L.S., Naughton, B., Saxonov, S., Avey, L., Wojcicki, A., Pe'er, I. and Mountain, J. (2010) Web-based, participant-driven studies yield novel genetic associations for common traits. PLoS Genet., 6, e1000993.
18. 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) Digital quantification of human eye color highlights genetic association of three new loci. PLoS Genet., 6, e1000934.
19. Nan, H., Kraft, P., Qureshi, A.A., Guo, Q., Chen, C., Hankinson, S.E., Hu, F.B., Thomas, G., Hoover, R.N., Chanock, S. et al. (2009) Genome-wide association study of tanning phenotype in a population of European ancestry. J. Invest. Dermatol., 129, 2250-2257.
20. Han, J., Qureshi, A.A., Nan, H., Zhang, J., Song, Y., Guo, Q. and Hunter, D.J. (2011) A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus. Cancer Res., 71, 1533-1539.
21. Kvaskoff, M., Whiteman, D.C., Zhao, Z.Z., Montgomery, G.W., Martin, N.G., Hayward, N.K. and Duffy, D.L. (2011) Polymorphisms in nevus-associated genes MTAP, PLA2G6, and IRF4 and the risk of invasive cutaneous melanoma. Twin Res. Hum. Genet., 14, 422-432.
22. Nan, H., Xu, M., Kraft, P., Qureshi, A.A., Chen, C., Guo, Q.,Hu, F. B., Curhan, G., Amos, C.I., Wang, L.E. et al. (2011) Genomewide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma. Hum. Mol. Genet., 20, 3718-3724.
23. Gudbjartsson, D.F., Sulem, P., Stacey, S.N., Goldstein, A.M., Rafnar, T., Sigurgeirsson, B., Benediktsdottir, K.R., Thorisdottir, K., Ragnarsson, R., Sveinsdottir, S.G. et al. (2008) ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat. Genet., 40, 886-891.
24. Praetorius, C., Grill, C., Stacey, S.N., Metcalf, A.M., Gorkin, D. U., Robinson, K.C., Van Otterloo, E., Kim, R.S., Bergsteinsdottir, K., Ogmundsdottir, M.H. et al. (2013) A polymorphism in IRF4 affects human pigmentation through a tyrosinasedependent MITF/TFAP2A pathway. Cell, 155, 1022-1033.
25. Gualco, G., Weiss, L.M. and Bacchi, C.E. (2010) MUM1/IRF4: A Review. Appl. Immunohistochem. Mol. Morphol., 18, 301-310.
26. Stockfleth, E., Ulrich, C., Meyer, T. and Christophers, E. (2002) Epithelial malignancies in organ transplant patients: clinical presentation and new methods of treatment. Recent Results Cancer Res., 160, 251-258.
27. Miller, R.L., Gerster, J.F., Owens, M.L., Slade, H.B. and Tomai, M.A. (1999) Imiquimod applied topically: a novel immune response modifier and new class of drug. Int. J. Immunopharmacol., 21, 1-14.
28. Stockfleth, E., Christophers, E., Benninghoff, B. and Sterry,W. (2004) Low incidence of newactinic keratoses after topical 5% imiquimod cream treatment: a long-term follow-up study. Arch. Dermatol., 140, 1542.
29. April, C.S. and Barsh, G.S. (2007) Distinct pigmentary and melanocortin 1 receptor-dependent components of cutaneous defense against ultraviolet radiation. PLoS Genet., 3, e9.
30. Wong, S.S., Ainger, S.A., Leonard, J.H. and Sturm, R.A. (2012) MC1R variant allele effects on UVR-induced phosphorylation of p38, p53, and DDB2 repair protein responses in melanocytic cells in culture. J. Invest. Dermatol., 132, 1452-1461.
31. DiGiovanna, J.J. and Kraemer, K.H. (2012) Shining a light on xeroderma pigmentosum. J. Invest. Dermatol., 132, 785-796.
32. Cheli, Y., Luciani, F., Khaled, M., Beuret, L., Bille, K., Gounon, P., Ortonne, J.P., Bertolotto, C. and Ballotti, R. (2009) {alpha} MSH and Cyclic AMP elevating agents control melanosome pH through a protein kinase A-independent mechanism. J. Biol. Chem., 284, 18699-18706.
33. Watabe, H., Valencia, J.C., Yasumoto, K., Kushimoto, T., Ando, H., Muller, J., Vieira, W.D., Mizoguchi, M., Appella, E. and Hearing, V.J. (2004) Regulation of tyrosinase processing and trafficking by organellar pH and by proteasome activity. J. Biol. Chem., 279, 7971-7981.
34. Jin, Y., Birlea, S.A., Fain, P.R., Gowan, K., Riccardi, S.L., Holland, P.J., Mailloux, C.M., Sufit, A.J., Hutton, S.M., Amadi-Myers, A. et al. (2010) Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. N. Engl. J. Med., 362, 1686-1697.
35. Kirkin, A.F., Dzhandzhugazyan, K. and Zeuthen, J. (1998) The immunogenic properties of melanoma-associated antigens recognized by cytotoxic T lymphocytes. Exp. Clin. Immunogenet., 15, 19-32.
36. Spritz, R.A. (2010) The genetics of generalized vitiligo: autoimmune pathways and an inverse relationship with malignant melanoma. Genome Med., 2, 78.
37. Zhang, M., Song, F., Liang, L., Nan, H., Zhang, J., Liu, H.,Wang, L.E.,Wei, Q., Lee, J.E., Amos, C.I. 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, 2948-2959.
38. Barrett, J.H., Iles, M.M., Harland, M., Taylor, J.C., Aitken, J.F., Andresen, P.A., Akslen, L.A., Armstrong, B.K., Avril, M.F., Azizi, E. et al. (2011) Genome-wide association study identifies three new melanoma susceptibility loci. Nat. Genet., 43, 1108-1113.
39. Bishop, D.T., Demenais, F., Iles, M.M., Harland, M., Taylor, J.C., Corda, E., Randerson-Moor, J., Aitken, J.F., Avril, M.F., Azizi, E. et al. (2009) Genome-wide association study identifies three loci associated with melanoma risk. Nat. Genet., 41, 920-925.
40. Stacey, S.N., Sulem, P., Masson, G., Gudjonsson, S.A., Thorleifsson, G., Jakobsdottir, M., Sigurdsson, A., Gudbjartsson, D.F., Sigurgeirsson, B., Benediktsdottir, K.R. et al. (2009) New common variants affecting susceptibility to basal cell carcinoma. Nat. Genet., 41, 909-914.
41. Venna, S.S., Lee, D., Stadecker, M.J. and Rogers, G.S. (2005) Clinical recognition of actinic keratoses in a high-risk population:how good are we?. Arch. Dermatol., 141, 507-509.
42. Weinstock, M.A., Bingham, S.F., Cole, G.W., Eilers, D., Naylor, M.F., Kalivas, J., Taylor, J.R., Gladstone, H.B., Piacquadio, D.J. and DiGiovanna, J.J. (2001) Reliability of counting actinic keratoses before and after brief consensus discussion: the VA topical tretinoin chemoprevention (VATTC) trial. Arch. Dermatol., 137, 1055-1058.
43. Royston, P., Altman, D.G. and Sauerbrei,W. (2006) Dichotomizing continuous predictors in multiple regression: a bad idea. Stat. Med., 25, 127-141.
44. Hofman, A., Darwish Murad, S., van Duijn, C.M., Franco, O.H., Goedegebure, A., Ikram, M.A., Klaver, C.C., Nijsten, T.E., Peeters, R.P., Stricker, B.H. et al. (2013) The Rotterdam Study:2014 objectives and design update. Eur. J. Epidemiol., 28, 889-926.
45. Kayser, M., Liu, F., Janssens, A.C., Rivadeneira, F., Lao, O., van Duijn, K., Vermeulen, M., Arp, P., Jhamai, M.M., van Ijcken,W. F. 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, 411-423.
46. Genomes Project, C., Abecasis, G.R., Auton, A., Brooks, L.D., DePristo, M.A., Durbin, R.M., Handsaker, R.E., Kang, H.M., Marth, G.T. and McVean, G.A. (2012) An integrated map of genetic variation from 1,092 human genomes. Nature, 491, 56-65.
47. Yang, J., Benyamin, B., McEvoy, B.P., Gordon, S., Henders, A.K., Nyholt, D.R.,Madden, P.A., Heath, A.C.,Martin, N.G.,Montgomery, G.W. et al. (2010) Common SNPs explain a large proportion of the heritability for human height. Nat. Genet., 42, 565-569.
48. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira,M.A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J. et al. (2007) PLINK: a tool set forwhole-genome association and population- based linkage analyses. Am. J. Hum. Genet., 81, 559-575.