DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Melanoma. The EFO term melanoma was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: melanoma

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

S Macgregor, GW Montgomery, JZ Liu, ZZ Zhao, AK Henders, M Stark, H Schmid, EA Holland, DL Duffy, M Zhang, JN Painter, DR Nyholt, JA Maskiell, J Jetann, M Ferguson, AE Cust, MA Jenkins, DC Whiteman, H Olsson, S Puig, G Bianchi-Scarrà, J Hansson, F Demenais, MT Landi, T Dębniak, R Mackie, E Azizi, B Bressac-de Paillerets, AM Goldstein, PA Kanetsky, NA Gruis, DE Elder, JA Newton-Bishop, DT Bishop, MM Iles, P Helsing, CI Amos, Q Wei, LE Wang, JE Lee, AA Qureshi, RF Kefford, GG Giles, BK Armstrong, JF Aitken, J Han, JL Hopper, JM Trent, KM Brown, NG Martin, GJ Mann, NK Hayward

TITLE:

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.

JOURNAL:

Nature genetics Oct 2011, Vol 43, pp. 1114-8

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. PUBMED: 21983785
Find other GeneSets from this publication