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OCA2

From SNPedia

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# SNPs34
 Max MagnitudeChromosome positionSummary
i500229528,228,553
rs1185501928,090,674
rs121918166027,985,101
rs121918167027,871,170
rs121918168028,014,819
rs121918169027,926,169
rs121918170027,983,383
rs121918171027,989,601
rs144812594027,986,615
rs1800401128,014,907
rs1800407127,985,172
rs1800414027,951,891skin pigmentation
rs1800419027,851,392
rs185504549028,014,775
rs2893427227,985,101
rs368124046027,983,340
rs387906240027,955,157
rs387906241027,926,246
rs477813728,082,689
rs4778138128,090,674
rs477821427,960,418
rs477824128,093,567
rs649726828,093,567
rs717098927,955,262
rs717341927,951,675
rs74653330027,983,407
rs7495174028,099,092
rs763819379027,983,421
rs780296175027,871,191
rs79472789828,016,127
rs79704478428,016,172
rs797045838027,926,194
rs797045839027,845,047
rs879253729027,926,237


OCA2, the oculocutaneous albinism gene (also known as the human P protein gene, or, DN10), is a gene associated with albinism and certain pigmentation effects in general such as eye color, skin color, and hair color.

A large (>3,000 individuals) study of Caucasians indicates that the following OCA2 variants, all located in the first intron of the gene, are preferentially linked to blue eye color inheritance; together, they form haplotypes that (in some cases at least) predict eye color with greater than 50:50 odds. [PMID 17236130]; OMIM 203200.0013

The haplotypes are defined in order as listed above for these 3 SNPs, so, for example, the TGT haplotype refers to rs745174(T)-rs6497268(G)-rs11855019(T). The correspondence between diplotypes (the two haplotypes in one individual) and the % of individuals with blue/gray, green/hazel/ and brown eye color , respectively, was reported as follows for the most common diplotypes[PMID 17236130]:

  • TGT/TGT: 62.5, 28.0, 9.5
  • TGT/TTC: 47.1, 20.3, 32.6
  • TGT/CGT: 28.6, 14.3, 57.1
  • TGT/TGC: 27.9, 22.1, 50.0
  • TGC/TTC: 25.0, 8.3, 66.7
  • TTT/TGC: 20.7, 31.0, 48.3
  • TGT/TTT: 17.6, 38.5, 44.0
  • TGT/CTC: 7.9, 23.3, 68.8

The haplotypes shown in bold italics represent the ones reported by the authors of this study to be most associated with brown eye color. Furthermore, the haplotypes shown above are as published, and the associated SNPs - which have since changed # as well - are not in the orientation shown in dbSNP.

More recently, a study of a large Danish family led to associations with 2 SNPs in a different region of OCA2 as linked to blue or brown eye color:

Earlier studies found different regions of the OCA2 gene to also be predictive of eye color;


See also OMIM 203200, and for a more lengthy (though potentially out of date) list of all known mutations in the OCA2 gene, see the OCA2 Albinism DB page.