SNP rs7412746 showed nominally significant association with blue versus non-blue eye colour ( P =0.02), fair versus non-fair hair colour ( P =0.01) and dark brown versus non-dark brown hair colour ( P =0.02), as well as borderline association with nevus count ( P =0.06).
We sought further replication of the two chromosome 1 regions in an additional set of cases and controls from the United States ( Table 1 , Supplementary Table 2 ); rs7412746 clearly replicated (OR=0.86, P =0.0076, one-sided; meta-analysis of all three replication cohorts OR=0.89, P =1.5 × 10 −5 ), with rs3219090 showing a trend toward significance in the expected direction (OR=0.95, P =0.20, one-sided; meta-analysis of all three replication cohorts OR=0.91, P = 3.4 × 10 −3 ).