Fig. 4: Thirty-six risk loci where donor genotypes differ according to country.
From: Somatic mutations in facial skin from countries of contrasting skin cancer risk
Loci are either associated with keratinocyte cancer or tan response (Tan) or previously found to be under selection in Singaporean genomes; – for genotype indicates that no call could be made (Methods). Associated genes and mechanisms are suggested using phenome-wide association studies (PheWAS) and expression quantitative trait locus (eQTL) data from the Open Targets Genetics database. ECM, extra-cellular matrix; – indicates that the mechanism is unknown. Population allele frequencies are reported for East Asia (EA freq) and Great Britain (GBR freq) using data from the 1000 Genomes Project Phase 3 (Methods). Purple shading indicates the frequency of the alternative (ALT) allele in each population. Note that all loci in the HYAL region form part of the same linkage disequilibrium block on chromosome 3p.21. For each donor, green indicates homozygous reference (REF) alleles, yellow heterozygous and red homozygous ALT alleles.
