PMID 26184321 2015 Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.
PMID 18483556 2008 A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
rs4268748 in
DEF8 gene and
Skin Pigmentation
PMID 25963972 2015 Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.
rs4268748 in
DEF8 gene and
Squamous cell carcinoma
PMID 26829030 2016 Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.
PMID 26908436 2016 A Genome-Wide Association Study of Cutaneous Squamous Cell Carcinoma among European Descendants.
rs4268748 in
DEF8 gene and
Vitiligo
PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.
rs4785751 in
DEF8 gene and
melanoma
PMID 21926416 2011 Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.