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R R. Allingham, Yutao Liu, Jason Gibson, Xuejun Qin, Joshua Wheeler, Stephen Akafo, Julia E. Richards, Chris Girkin, POAG African American Study Group, Michael A. Hauser; Variants In Cav1/2 Are Associated With Poag Risk In African Americans. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2402.
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POAG is a genetically complex heterogeneous disease. Recently, In a genome-wide association study, Thorleifsson et al described an association between a variant, rs4236601, near caveolin 1 and 2 (CAV1/2) and POAG in Caucasian and Asian datasets. Herein we report the results of an analysis of this variant in an African American, Ghanaian and Caucasian dataset.
POAG was defined as the presence of glaucomatous optic nerve damage with associated visual field loss. Controls had IOP < 22 mmHg and no evidence of glaucomatous optic neuropathy and normal visual fields. Thirteen single nucleotide polymorphisms were genotyped with the Taqman allelic discrimination assay in three independent POAG case/control datasets: a Duke Caucasian cohort of 492 cases and 440 controls; a combined Duke and consortium African American cohort of 950 cases and 931 controls; and a Ghanaian cohort of 479 cases and 590 controls. Genotype associations with disease were evaluated using a logistic regression model corrected for age and gender.
SNP rs4236601 was not significantly associated with POAG risk in the Caucasian dataset (p=0.098), or the Ghanaian dataset (p=0.057), perhaps due to insufficient statistical power. However, this variant was significant in African Americans [p=0.038; OR 1.15 (95% CI 1.008-1.315)]. To follow up this replication, we subsequently genotyped a full haplotype tagging set of 13 SNPs in the African American dataset. Two additional SNPs were marginally significant: rs8940 (p=0.042) and rs10227696 (p=0.050).
Rs4236601, a variant near CAV1/2, has previously been associated with risk of POAG in Caucasian and Asian populations. We have now demonstrated that this variant is also associated with POAG in African Americans, suggesting an expanded role of this locus in the etiology of POAG in the US.The POAG African American Study Group includes Janey Wiggs, Douglas Gaasterland, Paul Lichter, Leon Herndon, Pratap Challa, Robert Ritch, and Donald Budenz
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