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- Title
Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.
- Authors
Falchi, Mario; Bataille, Veronique; Hayward, Nicholas K.; Duffy, David L.; Bishop, Julia A. Newton; Pastinen, Tomi; Cervino, Alessandra; Zhao, Zhen Z.; Deloukas, Panos; Soranzo, Nicole; Elder, David E.; Barrett, Jennifer H.; Martin, Nicholas G.; Bishop, D. Timothy; Montgomery, Grant W.; Spector, Timothy D.
- Abstract
A high melanocytic nevi count is the strongest known risk factor for cutaneous melanoma. We conducted a genome-wide association study for nevus count using 297,108 SNPs in 1,524 twins, with validation in an independent cohort of 4,107 individuals. We identified strongly associated variants in MTAP, a gene adjacent to the familial melanoma susceptibility locus CDKN2A on 9p21 (rs4636294, combined P = 3.4 × 10−15), as well as in PLA2G6 on 22q13.1 (rs2284063, combined P = 3.4 × 10−8). In addition, variants in these two loci showed association with melanoma risk in 3,131 melanoma cases from two independent studies, including rs10757257 at 9p21, combined P = 3.4 × 10−8, OR = 1.23 (95% CI = 1.15–1.30) and rs132985 at 22q13.1, combined P = 2.6 × 10−7, OR = 1.23 (95% CI = 1.15–1.30). This provides the first report of common variants associated to nevus number and demonstrates association of these variants with melanoma susceptibility.
- Subjects
MELANOMA; DISEASE risk factors; DISEASE susceptibility; GENOMES; CLINICAL trials
- Publication
Nature Genetics, 2009, Vol 41, Issue 8, p915
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.410