Genome-wide association study identifies novel loci predisposing to cutaneous melanoma
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Amos, Christopher I.
Wang, Li-E.
Lee, Jeffrey E.
Gershenwald, Jeffrey E.
Chen, Wei V.
Fang, Shenying
Kosoy, Roman
Zhang, Mingfeng
Qureshi, Abrar A.
Vattathil, Selina
Schacherer, Christopher W.
Gardner, Julie M.
Wang, Yuling
Bishop, D. Tim
Barrett, Jennifer H.
MacGregor, Stuart
Hayward, Nicholas K.
Martin, Nicholas G.
Duffy, David L.
Mann, Graham J.
Cust, Anne
Hopper, John
Brown, Kevin M.
Grimm, Elizabeth A.
Xu, Yaji
Han, Younghun
Jing, Kaiyan
McHugh, Caitlin
Laurie, Cathy C.
Doheny, Kim F.
Pugh, Elizabeth W.
Seldin, Michael F.
Han, Jiali
Wei, Qingyi
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https://doi.org/10.1093/hmg/ddr415Metadata
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Amos, Christopher I., Li-E Wang, Jeffrey E. Lee, Jeffrey E. Gershenwald, Wei V. Chen, Shenying Fang, Roman Kosoy, et al. 2011. “Genome-Wide Association Study Identifies Novel Loci Predisposing to Cutaneous Melanoma†.” Human Molecular Genetics 20 (24): 5012–23. https://doi.org/10.1093/hmg/ddr415.Abstract
We performed a multistage genome-wide association study of melanoma. In a discovery cohort of 1804 melanoma cases and 1026 controls, we identified loci at chromosomes 15q13.1 (HERC2/OCA2 region) and 16q24.3 (MC1R) regions that reached genome-wide significance within this study and also found strong evidence for genetic effects on susceptibility to melanoma from markers on chromosome 9p21.3 in the p16/ARF region and on chromosome 1q21.3 (ARNT/LASS2/ANXA9 region). The most significant single-nucleotide polymorphisms (SNPs) in the 15q13.1 locus (rs1129038 and rs12913832) lie within a genomic region that has profound effects on eye and skin color; notably, 50% of variability in eye color is associated with variation in the SNP rs12913832. Because eye and skin colors vary across European populations, we further evaluated the associations of the significant SNPs after carefully adjusting for European substructure. We also evaluated the top 10 most significant SNPs by using data from three other genome-wide scans. Additional in silico data provided replication of the findings from the most significant region on chromosome 1q21.3 rs7412746 (P = 6 x 10(-10)). Together, these data identified several candidate genes for additional studies to identify causal variants predisposing to increased risk for developing melanoma.Citable link to this page
http://nrs.harvard.edu/urn-3:HUL.InstRepos:41245539
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