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Association of the SNP rs112369934 near TRIM66 Gene with POAG Endophenotypes in African Americans
Genes ( IF 3.5 ) Pub Date : 2021-09-15 , DOI: 10.3390/genes12091420
Claire D Kim 1 , Harini V Gudiseva 2 , Brendan McGeehan 2 , Ebenezer Daniel 2 , Gui Shuang Ying 2 , Venkata R M Chavali 2 , Joan M O'Brien 2
Affiliation  

We investigated the association of the single nucleotide polymorphism (SNP) rs112369934 near the TRIM66 gene with qualitative and quantitative phenotypes of primary open-angle glaucoma (POAG) in African Americans (AA). AA subjects over 35 years old were recruited for the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study in Philadelphia, PA. Glaucoma cases were evaluated for phenotypes associated with POAG pathogenesis, and the associations between rs112369934 and phenotypes were investigated by logistic regression analysis and in gender-stratified case cohorts: The SNP rs112369934 was found to have a suggestive association with retinal nerve fiber layer (RNFL) thickness and cup-to-disc ratio (CDR) in 1087 male AA POAG cases, individuals with the TC genotype having thinner RNFL (95% CI 0.85 to 6.61, p = 0.01) and larger CDR (95% CI −0.07 to −0.01, p = 0.02) than those with wildtype TT. No other significant associations were found. In conclusion SNP rs112369934 may play a role in POAG pathogenesis in male AA individuals. However, this SNP has been implicated in higher POAG risk in both male and female AA POAG cases.

中文翻译:

非洲裔美国人的 TRIM66 基因附近的 SNP rs112369934 与 POAG 内表型的关联

我们研究了 TRIM66 附近的单核苷酸多态性 (SNP) rs112369934 的关联基因与非裔美国人(AA)原发性开角型青光眼(POAG)的定性和定量表型。35 岁以上的 AA 受试者被招募参加宾夕法尼亚州费城的初级开角非裔美国人青光眼遗传学 (POAAGG) 研究。评估青光眼病例与 POAG 发病机制相关的表型,并通过逻辑回归分析和性别分层病例队列研究 rs112369934 与表型之间的关联:发现 SNP rs112369934 与视网膜神经纤维层 (RNFL) 具有暗示性关联1087 例男性 AA POAG 病例的厚度和杯盘比 (CDR),具有 TC 基因型的个体具有较薄的 RNFL(95% CI 0.85 至 6.61,p = 0.01)和较大的 CDR(95% CI -0.07 至 -0.01 , p= 0.02) 比具有野生型 TT 的那些。没有发现其他重要的关联。总之,SNP rs112369934 可能在男性 AA 个体的 POAG 发病机制中发挥作用。然而,这种 SNP 与男性和女性 AA POAG 病例中更高的 POAG 风险有关。
更新日期:2021-09-16
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