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Study Report - GWAS of cutaneous nevi (HGVST359)| HGVbaseG2P identifier | HGVST359 | ||||||||||||||||||||
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| Study name | GWAS of cutaneous nevi | ||||||||||||||||||||
| Phenotype(s) tested | Cutaneous nevi |
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| Study design | Quantitative trait analysis with replication | ||||||||||||||||||||
| Genotype Platforms |
Illumina 297,108 | ||||||||||||||||||||
| 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. | ||||||||||||||||||||
| Submission information |
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| Cross-references |
NHGRI GWAS catalog study annotation for HGVST359 |
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| Background | Not supplied | ||||||||||||||||||||
| Objectives | Not supplied | ||||||||||||||||||||
| Key results | Not supplied | ||||||||||||||||||||
| Conclusions | Not supplied | ||||||||||||||||||||
| Reason for study size | Not supplied | ||||||||||||||||||||
| Study power | Not supplied | ||||||||||||||||||||
| Sources of bias | Not supplied | ||||||||||||||||||||
| Limitations | Not supplied | ||||||||||||||||||||
| Acknowledgements | Not supplied | ||||||||||||||||||||
| Other citations |
Hindorff LA, Sethupathy P, Junkins HA et al.
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proceedings of the National Academy of Sciences U S A. 2009 May 27
Falchi M, Bataille V, Hayward NK et al.
Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. Nature genetics 2009;41(8):915-9 |
