Evaluation of ADRB2 and OATP2A1 genetic polymorphisms in Indian patients with primary open-angle glaucoma

Abstract

The emergence of adrenergic β2-receptor (ADRB2) blockers has revolutionized glaucoma treatment, while the discovery of prostaglandin analogs has further expanded therapeutic options. Organic anion transporting polypeptide 2A1 (OATP2A1/SLCO2A1) facilitates the corneal transport of topical prostaglandins into anterior segment of eye. Our study aims to elucidate the prevalence of genetic polymorphisms in the ADRB2 and OATP2A1 to address variations in therapeutic responses among glaucoma patients. The study cohort comprised primary open-angle glaucoma patients (POAG, n = 77), compared to non-glaucomatous controls (n = 60) to identify polymorphisms rs1042713 (Arg16Gly, A > G) and rs1042714 (Gln27Glu, C > G) in the ADRB2 gene and rs34550074 (Ala396Thr, A > G) in OATP2A1 gene, using Sanger sequencing. Among the enrolled subjects (n = 137), the POAG group exhibited significantly elevated intraocular pressure (P < 0.001) and cup-to-disc ratio (P < 0.0001). The GA genotype of rs1042713 (P < 0.01) and the GG genotype of rs1042714 (P < 0.05) were positively associated with POAG, while rs34550074 (P > 0.05) showed no significant correlation with the disease. This study reveals the association of the ADRB2 gene polymorphisms with POAG, whereas OATP2A1 polymorphism did not show significant correlation.