| Literature DB >> 20602913 |
David L Duffy1, Mark M Iles, Dan Glass, Gu Zhu, Jennifer H Barrett, Veronica Höiom, Zhen Z Zhao, Richard A Sturm, Nicole Soranzo, Chris Hammond, Marina Kvaskoff, David C Whiteman, Massimo Mangino, Johan Hansson, Julia A Newton-Bishop, Veronique Bataille, Nicholas K Hayward, Nicholas G Martin, D Timothy Bishop, Timothy D Spector, Grant W Montgomery.
Abstract
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). Copyright 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.Entities:
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Year: 2010 PMID： 20602913 PMCID： PMC2896771 DOI： 10.1016/j.ajhg.2010.05.017
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025