Additional file 1: of Sex-specific genetic effects associated with pigmentation, sensitivity to sunlight, and melanoma in a population of Spanish origin

This contains Tables S1–S3 and Figures S1–S2. Table S1. List of 363 successfully genotyped SNPs, Minor allele frequencies for all samples, males and females, and HWE P value. Table S2. List of SNPs associated with pigmentation traits in females and males. Table S3. List of SNPs associated with sun response traits in females and males. Figure S1. Comparison of minor allele frequencies, female versus male individuals. Figure S2. A selection of genetic factors affecting pigmentation and sun sensitivity in humans. (PDF 417 kb)

Sex and MC1R variants in human pigmentation: Differences in tanning ability and sensitivity to sunlight between sexes

Sex-Specific Genetic Effects Associated with Pigmentation, Sensitivity to Sunlight, And Melanoma in a Population of Spanish Origin

Background Human pigmentation is a polygenic quantitative trait with high heritability. In addition to genetic factors, it has been shown that pigmentation can be modulated by oestrogens and androgens via up- or down-regulation of melanin synthesis. Our aim was to identify possible sex differences in pigmentation phenotype as well as in melanoma association in a melanoma case-control population of Spanish origin. Methods Five hundred and ninety-nine females (316 melanoma cases and 283 controls) and 458 males (234 melanoma cases and 224 controls) were analysed. We genotyped 363 polymorphisms (single nucleotide polymorphisms (SNPs)) from 65 pigmentation gene regions. Results When samples were…