Title |
Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi
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Published in |
Nature Genetics, July 2009
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DOI | 10.1038/ng.410 |
Pubmed ID | |
Authors |
Mario Falchi, Veronique Bataille, Nicholas K Hayward, David L Duffy, Julia A Newton Bishop, Tomi Pastinen, Alessandra Cervino, Zhen Z Zhao, Panos Deloukas, Nicole Soranzo, David E Elder, Jennifer H Barrett, Nicholas G Martin, D Timothy Bishop, Grant W Montgomery, Timothy D Spector |
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. |
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Italy | 1 | <1% |
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Unknown | 93 | 91% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 24 | 24% |
Student > Ph. D. Student | 18 | 18% |
Professor | 9 | 9% |
Other | 8 | 8% |
Student > Postgraduate | 8 | 8% |
Other | 24 | 24% |
Unknown | 11 | 11% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 25 | 25% |
Biochemistry, Genetics and Molecular Biology | 25 | 25% |
Computer Science | 3 | 3% |
Philosophy | 1 | <1% |
Other | 2 | 2% |
Unknown | 14 | 14% |