Two newly identified genetic determinants of pigmentation in Europeans

• DOI: 10.1038/ng.160
• Publication Date: 2008-05-18T19:01:11Z
• Authors: Patrick Sulem; Daniel F Gudbjart...; Simon N Stacey; Agnar Helgason; Thorunn Rafnar; Margret Jakobsdottir; Stacy Steinberg; Sigurjon A Gudjon...; Arnar Palsson; Gudmar Thorleifsson; Snæbjörn Pálsson; Bardur Sigurgeirsson; Kristin Thorisdottir; Rafn Ragnarsson; Kristrun R Benedi...; Katja K Aben; Sita H Vermeulen; Alisa M Goldstein; Margaret A Tucker; Lambertus A Kiemeney; Jon H Olafsson; Jeffrey Gulcher; Augustine Kong; Unnur Thorsteinsd...; Kari Stefansson
• Keywords: Genetic Linkage; Iceland; EBP 2: Effective Hospital Care; Polymorphism, Single Nucleotide; Melanosis; 03 medical and health sciences; Gene Frequency; ONCOL 1: Hereditary cancer and cancer-related syndromes; Odds Ratio; Humans; Netherlands; 0303 health sciences; Eye Color; Pigmentation; NCEBP 1: Molecular epidemiology; ONCOL 5: Aetiology, screening and detection; Genetics, Population; ONCOL 3: Translational research; Haplotypes; Agouti Signaling Protein; UMCN 1.2: Molecular diagnosis, prognosis and monitoring; Calcium Channels; Solar System; EBP 1: Determinants in Health and Disease; Hair

We present results from a genome-wide association study for variants associated with human pigmentation characteristics among 5,130 Icelanders, with follow-up analyses in 2,116 Icelanders and 1,214 Dutch individuals. Two coding variants in TPCN2 are associated with hair color, and a variant at the ASIP locus shows strong association with skin sensitivity to sun, freckling and red hair, phenotypic characteristics similar to those affected by well-known mutations in MC1R.