23andMe blog citing [PMID 19805132] in an Afro-Caribbean population rs12994401(T;T) had almost 35 times higher odds of primary open-angle glaucoma. This correlation was not found in Japanese [PMID 20424111], Korean [PMID 21552472], Chinese [PMID 22773901], African or Central European [PMID 23136999] populations. In African-American population correlation was for the reverse allele C. This suggest as yet unidentified causal variant with population dependent linkage to rs12994401 is responsible [PMID 17273975]. South-Indian cohort evaluation [PMID 22410552] suggests rs10202118 as one contributor, while Chinese study [PMID 22773901] suggests rs1533428 contribution. However, an analysis of extended chromosome locus 2p14-21 [PMID 21552472] did not find such association, and meta-analysis by the Chinese study [PMID 22773901] showed insignificant association to rs12994401 overall.
[PMID 19805132] Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados
[PMID 21150032] Complex genetic mechanisms in glaucoma: an overview.
[PMID 22410552] Evaluation of SNPs on chromosome 2p with primary open angle glaucoma in the South Indian cohort
[PMID 23136999] Role of rs1533428 and rs12994401 in patients with Primary Open Angle Glaucoma in an European population