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Abstract #98480 Published in IGR 22-4
Mutational analysis of (rs56010818) variant in primary open angle glaucoma (POAG) affected patients of Pakistan
Narsani AK; Waryah AM; Rafiq M; Shaikh H; Naqvi SHA; Kumar R; Kumar PSaudi journal of biological sciences 2022; 29: 96-101
BACKGROUND: Primary open angle glaucoma (POAG) occurs due to the discrepancies in the angle of anterior chamber characterized by the alterations in intraocular pressure, optic nerves head changes and central loss of visual field. In molecular research, mutations modulates an integral role in association with glaucoma. Current study was undertaken to reveal the homozygous and heterozygous patterns of c.1169 G > A variant (rs56010818) in POAG patients of Pakistan. METHODS: After consent, total n = 88 POAG patients undergone through standard ophthalmological investigations before their recruitment in this study. The blood samples were utilized for DNA isolation. The genotyping of c.1169 G > A variant was carried out by Sanger sequencing. The mutational patterns and its association with clinical variables were demonstrated by statistical and bioinformatic tools. RESULTS: It was evident that the frequencies of heterozygous G/A and homozygous mutants A/A genotypes were higher in males (36.5%, 7.7%) than females (30.6%, 2.8%) of POAG population. Furthermore, the juvenile patients exhibit high manifestation of carrier genotype (66.6%) in comparison to adult patients (31.7%). The results also indicated the significant relationship of intraocular pressure with homozygous mutant A/A genotype of variant in POAG patients (p < 0.05). CONCLUSIONS: Our study provided the mutational data of R390H variant and the patterns of homozygosity and heterozygosity along with clinical associations. Overall, this study revealed the genetic predisposition of c.1169 G > A variant in the patients of POAG in Pakistan. The findings could be helpful for genetic screening and in-depth understanding of underlying causes in the pathogenesis of POAG.
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