Table 1 GWAS loci and the associated pigmentary and cancer phenotypes
Chromosomal region/locus (SNP region) [Reference] | Pigmentation status | Cancer phenotype |
|---|---|---|
Blonde/red hair, freckling | Skin sensitivity, CM, BCC | |
Blue versus green eyes, freckling | Skin sensitivity, CM, BCC | |
Blonde hair (weak), brown eyes, green eyes (weak) | CM | |
Red and blonde hair, Freckling | CM, BCC, skin sensitivity | |
TPCN2 (rs35264875 [T], rs3829241 [A]) [25] | Blonde hair versus brown | CM and BCC (weak) |
SLC24A4 (rs12896399) [24] | Blonde hair, green eyes brown eyes (weak) | Skin sensitivity (weak) |
KITLG (rs12821256) [24] | Blonde hair | Not known |
6p25.3 (rs1540771) [24] | Blonde hair, freckling | Skin sensitivity (weak) |
OCA2 (rs1667394, rs7495174) [24] | Blonde hair, green and brown eyes | Skin sensitivity (weak) |
9p21 adjacent to MTAP (rs7023329) [28] | Blonde hair, green and brown eyes, freckling | Skin sensitivity, CM |
9p21 adjacent to CDKN2A/B [12] | No association | BCC, no association to CM |
KRT5, G138E substitution [12] | No association | BCC, no association to CM |
7q32 adjacent to KLF14 [12] | No association | BCC, no association to CM |
MTAP rs4636294 ref [37] | Not known | CM |
PLA2G6 (rs2284063) [37] | Not known | CM |