Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.
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We performed a genome-wide association study of melanoma in a discovery cohort of 2,168 Australian individuals with melanoma and 4,387 control individuals. In this discovery phase, we confirm several previously characterized melanoma-associated loci at MC1R, ASIP and MTAP-CDKN2A. We selected variants at nine loci for replication in three independent case-control studies (Europe: 2,804 subjects with melanoma, 7,618 control subjects; United States 1: 1,804 subjects with melanoma, 1,026 control subjects; United States 2: 585 subjects with melanoma, 6,500 control subjects). The combined meta-analysis of all case-control studies identified a new susceptibility locus at 1q21.3 (rs7412746, P = 9.0 × 10(-11), OR in combined replication cohorts of 0.89 (95% CI 0.85-0.95)). We also show evidence suggesting that melanoma associates with 1q42.12 (rs3219090, P = 9.3 × 10(-8)). The associated variants at the 1q21.3 locus span a region with ten genes, and plausible candidate genes for melanoma susceptibility include ARNT and SETDB1. Variants at the 1q21.3 locus do not seem to be associated with human pigmentation or measures of nevus density.
SubjectChromosomes, Human, Pair 1
Polymorphism, Single Nucleotide
Genome-Wide Association Study
Published Version (Please cite this version)10.1038/ng.958
Publication InfoWei, Qingyi; Macgregor, Stuart; Montgomery, Grant W; Liu, Jimmy Z; Zhao, Zhen Zhen; Henders, Anjali K; ... Hayward, Nicholas K (2011). Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. Nature genetics, 43(11). pp. 1114-1118. 10.1038/ng.958. Retrieved from https://hdl.handle.net/10161/17974.
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Professor in Population Health Sciences
Qingyi Wei, MD, PhD, Professor in the Department of Medicine, is Associate Director for Cancer Control and Population Sciences, Co-leader of CCPS and Co-leader of Epidemiology and Population Genomics (Focus Area 1). He is a professor of Medicine and an internationally recognized epidemiologist focused on the molecular and genetic epidemiology of head and neck cancers, lung cancer, and melanoma. His research focuses on biomarkers and genetic determinants for the DNA repair deficient phenotype and