Two newly identified genetic determinants of pigmentation in Europeans

  • Nat Genet. 2008 Jul;40(7):835-7. doi: 10.1038/ng.160.
Patrick Sulem  1 ,  Daniel F Gudbjartsson ,  Simon N Stacey ,  Agnar Helgason ,  Thorunn Rafnar ,  Margret Jakobsdottir ,  Stacy Steinberg ,  Sigurjon A Gudjonsson ,  Arnar Palsson ,  Gudmar Thorleifsson ,  Snaebjörn Pálsson ,  Bardur Sigurgeirsson ,  Kristin Thorisdottir ,  Rafn Ragnarsson ,  Kristrun R Benediktsdottir ,  Katja K Aben ,  Sita H Vermeulen ,  Alisa M Goldstein ,  Margaret A Tucker ,  Lambertus A Kiemeney ,  Jon H Olafsson ,  Jeffrey Gulcher ,  Augustine Kong ,  Unnur Thorsteinsdottir ,  Kari Stefansson
Affiliations
  • 1. deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.
PMID: 18488028 DOI: 10.1038/ng.160
Abstract

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.