Genome-wide association study identifies three new melanoma susceptibility loci.
Abstract
We report a genome-wide association study for melanoma that was conducted by the GenoMEL
Consortium. Our discovery phase included 2,981 individuals with melanoma and 1,982
study-specific control individuals of European ancestry, as well as an additional
6,426 control subjects from French or British populations, all of whom were genotyped
for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). Our analysis replicated
previously known melanoma susceptibility loci. Seven new regions with at least one
SNP with P < 10(-5) and further local imputed or genotyped support were selected for
replication using two other genome-wide studies (from Australia and Texas, USA). Additional
replication came from case-control series from the UK and The Netherlands. Variants
at three of the seven loci replicated at P < 10(-3): an SNP in ATM (rs1801516, overall
P = 3.4 × 10(-9)), an SNP in MX2 (rs45430, P = 2.9 × 10(-9)) and an SNP adjacent to
CASP8 (rs13016963, P = 8.6 × 10(-10)). A fourth locus near CCND1 remains of potential
interest, showing suggestive but inconclusive evidence of replication (rs1485993,
overall P = 4.6 × 10(-7) under a fixed-effects model and P = 1.2 × 10(-3) under a
random-effects model). These newly associated variants showed no association with
nevus or pigmentation phenotypes in a large British case-control series.
Type
Journal articleSubject
GenoMEL ConsortiumHumans
Melanoma
Skin Neoplasms
Genetic Predisposition to Disease
Case-Control Studies
Polymorphism, Single Nucleotide
Genome-Wide Association Study
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https://hdl.handle.net/10161/17972Published Version (Please cite this version)
10.1038/ng.959Publication Info
Barrett, Jennifer H; Iles, Mark M; Harland, Mark; Taylor, John C; Aitken, Joanne F;
Andresen, Per Arne; ... GenoMEL Consortium (2011). Genome-wide association study identifies three new melanoma susceptibility loci. Nature genetics, 43(11). pp. 1108-1113. 10.1038/ng.959. Retrieved from https://hdl.handle.net/10161/17972.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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