Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi

Falchi, M, Bataille, V, Hayward, NK, Duffy, DL, Bishop, JAN, Pastinen, T, Cervino, A, Zhao, ZZ, Deloukas, P, Soranzo, N, Elder, DE, Barrett, JH, Martin, NG, Bishop, DT, Montgomery, GW and Spector, TD (2009) Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. Nature Genetics, 41 8: 915-919. doi:10.1038/ng.410


Author Falchi, M
Bataille, V
Hayward, NK
Duffy, DL
Bishop, JAN
Pastinen, T
Cervino, A
Zhao, ZZ
Deloukas, P
Soranzo, N
Elder, DE
Barrett, JH
Martin, NG
Bishop, DT
Montgomery, GW
Spector, TD
Title Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2009-07-05
Year available 2009
Sub-type Article (original research)
DOI 10.1038/ng.410
Volume 41
Issue 8
Start page 915
End page 919
Total pages 5
Place of publication Myles Axton
Publisher Myles Axton
Collection year 2010
Language eng
Subject C1
Formatted 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.
Q-Index Code C1
Q-Index Status Confirmed Code

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2010 Higher Education Research Data Collection
School of Medicine Publications
Institute for Molecular Bioscience - Publications
 
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Created: Fri, 26 Mar 2010, 17:22:37 EST by Amanda Jones on behalf of Medicine - Royal Brisbane and Women's Hospital