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Eye color

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mechanism for producing some eye colors

See also appearance

The genetics of eye color, like hair color, are still being worked out, and it's clear that several genes can modify the eventual outcome. In a population sense, it should be noted that all populations except Caucasians basically have brown eyes, while amongst Caucasians one categorization that researchers track is blue vs non-blue.

This 2012 article identifies 3 distinct hapotypes for blue eye color.

BEH1 : blue-eye associated haplotype #1 gs255 gs256 OCA2

BEH2 blue-eye associated haplotype #2 gs257 gs258 HERC2 minus orientation

BEH3 blue-eye associated haplotype #3 gs259 gs260 HERC2

  • rs916977(G) - not in HGDP
  • rs1667394(A) - in thearticle, this one was the only HERC2 given in plus orientation

Here is a spreadsheet for self reporting eye color

One gene with a significant role in determining blue eye color is OCA2, a gene with variants first linked to albinism and perhaps melanoma risk.

The following OCA2 variants, all located in the first intron of the gene, have been linked to blue eye inheritance; together, they form a haplotype that occurs in 90% of individuals seen with blue or green eye color, but can also be seen in 10% of individuals with brown eye color. [PMID 17236130]

More recently, one potentially functional OCA2 SNP that is part of a 13 SNP haplotype covering 166kB located at the other side of the gene has been found in 97% of individuals with blue eye color [PMID 18172690]:

See also OMIM 203200.0013

gs237 is about eye color

gnxp Eye color snps


Other snps linked to eye color:


10.1371/journal.pgen.1000934


spitoon

An investigation of not blue eyes

Eye color of someone with albinism eye picture