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:

2020-05-06

SPECIES:

AUTHORS:

JH Barrett, MM Iles, M Harland, JC Taylor, JF Aitken, PA Andresen, LA Akslen, BK Armstrong, MF Avril, E Azizi, B Bakker, W Bergman, G Bianchi-Scarrà, B Bressac-de Paillerets, D Calista, LA Cannon-Albright, E Corda, AE Cust, T Dębniak, D Duffy, AM Dunning, DF Easton, E Friedman, P Galan, P Ghiorzo, GG Giles, J Hansson, M Hocevar, V Höiom, JL Hopper, C Ingvar, B Janssen, MA Jenkins, G Jönsson, RF Kefford, G Landi, MT Landi, J Lang, J Lubiński, R Mackie, J Malvehy, NG Martin, A Molven, GW Montgomery, FA van Nieuwpoort, S Novakovic, H Olsson, L Pastorino, S Puig, JA Puig-Butille, J Randerson-Moor, H Snowden, R Tuominen, P Van Belle, N van der Stoep, DC Whiteman, D Zelenika, J Han, S Fang, JE Lee, Q Wei, GM Lathrop, EM Gillanders, KM Brown, AM Goldstein, PA Kanetsky, GJ Mann, S Macgregor, DE Elder, CI Amos, NK Hayward, NA Gruis, F Demenais, JA Bishop, DT Bishop

TITLE:

Genome-wide association study identifies three new melanoma susceptibility loci.

JOURNAL:

Nature genetics Oct 2011, Vol 43, pp. 1108-13

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. PUBMED: 21983787
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