Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.
Abstract
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.
Type
Journal articleSubject
Chromosomes, Human, Pair 1Humans
Melanoma
Polymorphism, Single Nucleotide
Genome-Wide Association Study
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https://hdl.handle.net/10161/17974Published Version (Please cite this version)
10.1038/ng.958Publication Info
Macgregor, Stuart; Montgomery, Grant W; Liu, Jimmy Z; Zhao, Zhen Zhen; Henders, Anjali
K; Stark, Mitchell; ... 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.This is constructed from limited available data and may be imprecise. To cite this
article, please review & use the official citation provided by the journal.
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Show full item recordScholars@Duke
Qingyi Wei
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

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