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Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk

By Hongmei Nan, Mousheng Xu, Jiangwen Zhang, Mingfeng Zhang, Peter Kraft, Abrar A. Qureshi, Constance Chen, Qun Guo, Frank B. Hu, Eric B. Rimm, Gary Curhan, Yiqing Song, Christopher I. Amos, Li-E Wang, Jeffrey E. Lee, Qingyi Wei, David J. Hunter and Jiali Han


We conducted a genome-wide association study on the number of melanocytic nevi reported by 9136 individuals of European ancestry, with follow-up replication in 3581 individuals. We identified the nidogen 1 (NID1) gene on 1q42 associated with nevus count (two linked single nucleotide polymorphisms with r2 > 0.9: rs3768080 A allele associated with reduced count, P = 6.5 × 10−8; and rs10754833 T allele associated with reduced count, P = 1.5 × 10−7). We further determined that the rs10754833 [T] was associated with a decreased melanoma risk in 2368 melanoma cases and 7432 controls [for CT genotype: odds ratio (OR) = 0.86, 95% confidence interval (CI) = 0.75–0.99, P = 0.04; for TT genotype: OR = 0.84, 95% CI = 0.71–0.98, P = 0.03]. Expression level of the NID1 locus was 2-fold higher for the rs10754833 T allele carriers than that with the CC genotype (P = 0.017) in the 87 HapMap CEU cell lines. The NID1 gene is a biologically plausible locus for nevogenesis and melanoma development, with decreased expression levels of NID1 in benign nevi (P = 3.5 × 10−6) and in primary melanoma (P = 4.6 × 10−4) compared with the normal skin

Topics: Association Studies Articles
Publisher: Oxford University Press
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Provided by: PubMed Central
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