Common sequence variants on 20q11.22 confer melanoma susceptibility

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Abstract
Brown et al. report results of a genome-wide association study for melanoma. Their screen, which used a pooling strategy, identified common variants on 20q11.22 associated with melanoma susceptibility. In two separate studies, Sulem et al. and Gudbjartsson et al. report that the same region on 20q11.22, near ASIP, influences pigmentation and confers risk of cutaneous melanoma and basal cell carcinoma. We conducted a genome-wide association pooling study for cutaneous melanoma and performed validation in samples totaling 2,019 cases and 2,105 controls. Using pooling, we identified a new melanoma risk locus on chromosome 20 (rs910873 and rs1885120), with replication in two further samples (combined P < 1 × 10−15). The per allele odds ratio was 1.75 (1.53, 2.01), with evidence for stronger association in early-onset cases.