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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 x 10(-15)), as well as in PLA2G6 on 22q13.1 (rs2284063, combined P = 3.4 x 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 x 10(-8), OR = 1.23 (95% CI = 1.15-1.30) and rs132985 at 22q13.1, combined P = 2.6 x 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.
- Publication
Nature genetics, 2009, Vol 41, Issue 8, p915
- ISSN
1546-1718
- Publication type
Journal Article
- DOI
10.1038/ng.410