The Journal of Bucharest College of Physicians and the Romanian Academy of Medical Sciences

Association of rs 10038177 and rs 1971050 Polymorphism of WDR 36 Gene with Clinical Profile in POAG Patients


To study WDR36 gene polymorphism (rs10038177 , rs1971050) and its association with clinical parameters in patients of primary open angle glaucoma. Methods: A cross sectional study conducted on 105 cases of POAG to study its association with WDR36 gene polymorphisms (rs 10038177, rs 1971050). The study subjects underwent complete ophthalmic examination, slit lamp examination, IOP measurement by Goldmann’s Applanation Tonometer, gonioscopy, fundus evaluation by 90D lens. RNFL thickness was measured using cirrus 500 OCT by Carl Zeiss. Peripheral blood samples were collected in EDTA-anticoagulant tubes, then DNA was extracted using the genomic DNA extraction and genotyped by PCR-RFLP by using (AluI) enzyme.Data analysis by SPSS, version 21.0. Chi-square and Independent sample ‘t’-tests used for comparison. Results: The association of genotypic expression of rs10038177 polymorphism with different clinical variables in POAG patients ,and the mean IOP (31.66 +/-5.88) and CDR (0.72+/- 0.15) for heterozygous genotype TC was significantly higher as compared to homozygous de33eeeee4(p<0.05) while in rs1971050 polymorphism, Diabetic history was significantly higher in genotype TC(60%)(p=0.012) as compared to genotype TT (19.1%). Conclusion: Our study shows that WDR 36 polymorphism (rs10038177) and (rs1971050) have an association with higher IOP and RNFL thinning which could be the underlying factors in pathogenesis and progression of POAG.