Abstract
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.
Highlights
Glaucoma is the leading cause of irreversible blindness worldwide, with approximately 3.6 million patients over the age of 50 years losing vision from this disease annually as of 2020 [1]
Quantitative and qualitative phenotypic data were not collected for the Primary Open-Angle African American Glaucoma Genetics (POAAGG) study control group, and the analysis for single nucleotide polymorphism (SNP) association with phenotypes was performed for Primary open-angle glaucoma (POAG) cases only
We investigate the association of the SNP rs112369934 near the TRIM66 gene with POAG-related qualitative and quantitative phenotypes in AAs
Summary
Glaucoma is the leading cause of irreversible blindness worldwide, with approximately 3.6 million patients over the age of 50 years losing vision from this disease annually as of 2020 [1]. Glaucoma is characterized by the progressive degeneration and deterioration of the optic nerve head (ONH) and retinal nerve fiber layer (RNFL), with a corresponding loss of the visual field [2]. Most glaucoma patients are asymptomatic and unaware when irreversible vision loss occurs [3]. Primary open-angle glaucoma (POAG) features a trabecular meshwork (TM) outflow pathway for the aqueous humor that is accessible but can be blocked internally [2]. POAG more severely and more commonly affects patients of African ancestry [4]. In 2020, POAG cases in the adult population was estimated to be 52.68 million, with an anticipated increase to 79.76 million by 2040 [4]
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