CDKN2B Polymorphism Is Associated with Primary Open-Angle Glaucoma (POAG) in the Afro-Caribbean Population of Barbados, West Indies

摘要: The purpose of this study was to confirm previously reported associations common variants in or near CDC7/TGFBR3, ZP4, SRBD1, ELOVL5, CAV1/CAV2, TLR4, CDKN2B, CDKN2B-AS1, ATOH7, PLXDC2, TMTC2, SIX1, and CARD10, with primary open angle glaucoma (POAG) the Afro-Caribbean population Barbados, West Indies. A total 437 unrelated subjects from Barbados Family Study Open Angle Glaucoma (BFSG), including 272 POAG 165 unaffected individuals were included study. Eighteen SNPs genotyped by using multiplex SNaPshot method. Allelic, genotypic model-based (dominant, recessive, additive) analyzed Chi-squared tests logistic regression. SNP rs1063192 (near CDKN2B) found be significantly associated (allelic P = 0.0008, 0.0029), minor allele C protective against (OR 0.39; 95%CI 0.22−0.69). Suggestive association also noted for rs7916697 ATHO7, allelic 0.0096, 0.01) being 0.67; 95% CI 0.50−0.91), although finding did not withstand correction multiple testing. However, a significant interactive effect on risk identified between (P-interaction 2.80×10−5). Individuals genotype CC CT genotypes GG GA show decreased 0.17, 95%CI: 0.07−0.41). Our confirms (CDKN2B, shown influence vertical cup-to-disc ratio at 9p21) Barbados. interacts that (ATOH7)) reduce risk. results suggest rs1063912 is variant populations African as well European descent.