Pigmentation loci, TPCN2 and ASIP

Gene Expression
By Razib Khan
Jun 26, 2008 11:48 PMNov 5, 2019 9:30 AM

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Sandy pointed me to letter to Nature by a group which has done some earlier pigmentation work, Two newly identified genetic determinants of pigmentation in Europeans:

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.

All well and good, but do note that in the fine print that it is the odds ratio for OCA2 really jumps out at you. Related:SLC24A5, SLC45A2, TYRP1, OCA2 and KITLG.

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