Sulem Patrick, Gudbjartsson Daniel F, Stacey Simon N, Helgason Agnar, Rafnar Thorunn, Jakobsdottir Margret, Steinberg Stacy, Gudjonsson Sigurjon A, Palsson Arnar, Thorleifsson Gudmar, Pálsson Snaebjörn, Sigurgeirsson Bardur, Thorisdottir Kristin, Ragnarsson Rafn, Benediktsdottir Kristrun R, Aben Katja K, Vermeulen Sita H, Goldstein Alisa M, Tucker Margaret A, Kiemeney Lambertus A, Olafsson Jon H, Gulcher Jeffrey, Kong Augustine, Thorsteinsdottir Unnur, Stefansson Kari
deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland.
Nat Genet. 2008 Jul;40(7):835-7. doi: 10.1038/ng.160. Epub 2008 May 18.
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.
我们展示了一项全基因组关联研究的结果，该研究针对5130名冰岛人身上与人类色素沉着特征相关的变异，并在2116名冰岛人和1214名荷兰人身上进行了后续分析。TPCN2基因中的两个编码变异与头发颜色相关，而ASIP基因座上的一个变异与皮肤对阳光的敏感性、雀斑和红发表现出强烈关联，这些表型特征与受MC1R中知名突变影响的特征相似。
