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Abstract #117938 Published in IGR 24-4
Association of , polymorphisms with POAG and NTG
Samoylov AN; Tumanova P; Pankratova SA; Ashryatova LS; Plotnikov DOphthalmic Genetics 2024; 45: 23-27
PURPOSE: Primary open-angle glaucoma (POAG) represents the most prevalent form of glaucoma and stands as a foremost contributor to irreversible vision impairment on a global scale. Despite notable strides made in comprehending the genetic underpinnings of POAG, investigations within the context of Russia remain constrained. METHODS: The study cohort comprised a total of 235 individuals, with 135 of them exhibiting various forms of glaucoma encompassing both POAG and (NTG, while the remaining 100 individuals served as control subjects. Each participant underwent a comprehensive ocular examination to ascertain their ocular health status. Genotyping of the relevant single nucleotide polymorphisms (SNPs) was carried out using the Taq Man genotyping assay. Specifically, the two SNPs under scrutiny were rs5443 gene and rs4646994. Statistical analysis was performed to evaluate the association of these SNPs with glaucoma risk. RESULTS: The presence of the T allele of rs5443 was found to be associated with NTG ( = .004). However, no statistically significant correlation was identified between this SNP and POAG ( = .88). CONCLUSION: This study provides evidence of an association between the T allele of rs5443 and a reduced susceptibility NTG within the Russian population. These observations augment the comprehension of the genetic underpinnings of glaucoma and hold potential implications for the prospective development of targeted therapeutic interventions.
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