IRF4 variants have age-specific effects on nevus count and predispose to melanoma.
paper
Cited
Public
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- Authors
- Duffy, David L; Iles, Mark M; Glass, Dan; Zhu, Gu; Barrett, Jennifer H; HΓΆiom, Veronica; Zhao, Zhen Z; Sturm, Richard A; Soranzo, Nicole; Hammond, Chris; Kvaskoff, Marina; Whiteman, David C; Mangino, Massimo; Hansson, Johan; Newton-Bishop, Julia A; GenoMEL; Bataille, Veronique; Hayward, Nicholas K; Martin, Nicholas G; Bishop, D Timothy; Spector, Timothy D; Montgomery, Grant W
- Year
- 2010
- Journal
- American journal of human genetics
- PMID
- 20602913
- DOI
- 10.1016/j.ajhg.2010.05.017
- PMCID
- PMC2896771
High melanocytic nevus count is a strong predictor of melanoma risk. A GWAS of nevus count in Australian adolescent twins identified an association of nevus count with the interferon regulatory factor 4 gene (IRF4 [p = 6 x 10(-9)]). There was a strong genotype-by-age interaction, which was replicated in independent UK samples of adolescents and adults. The rs12203592(*)T allele was associated with high nevus counts and high freckling scores in adolescents, but with low nevus counts and high freckling scores in adults. The rs12203592(*)T increased counts of flat (compound and junctional) nevi in Australian adolescent twins, but decreased counts of raised (intradermal) nevi. In combined analysis of melanoma case-control data from Australia, the UK, and Sweden, the rs12203592(*)C allele was associated with melanoma (odds ratio [OR] 1.15, p = 4 x 10(-3)), most significantly on the trunk (OR = 1.33, p = 2.5 x 10(-5)). The melanoma association was corroborated in a GWAS performed by the GenoMEL consortium for an adjacent SNP, rs872071 (rs872071(*)T: OR 1.14, p = 0.0035; excluding Australian, the UK, and Swedish samples typed at rs12203592: OR 1.08, p = 0.08).
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