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Gowthaman Govindarajan, Suganthalakshmi Balasubbu, Vignesh Thoguluva Prabhakaran, Kim Ramasamy, Sundaresan Periasamy; Association of ARHGAP22, PLXDC2 Genes Polymorphisms with Type-2 Diabetic Retinopathy in Indian Population. Invest. Ophthalmol. Vis. Sci. 2012;53(14):3329.
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Diabetic retinopathy (DR) is a sight-threatening chronic complication of type-2 diabetes mellitus and is the leading cause of acquired blindness in adults. Recently, Rho GTPase - activating protein 22 (ARHGAP22)and Plexin Domain Containing 2 (PLXDC2) are reported as the newcandidate genes associated with DR. The aim of this study was to investigate the possible genetic association of ARHGAP22, PLXDC2 gene polymorphisms with Type-2 Diabetic Retinopathy in Indian population
In this case-control association study, 600 unrelated patients were enrolled and categorized as DR and non-DR (NDR). DR consists of 300 patients with proliferative diabetic retinopathy confirmed by fundoscopy and NDR consist of 300 patients with more than 10 years duration of type-2 diabetes with no signs of DR. Two single-nucleotide polymorphisms (SNPs) in ARHGAP22 (rs11101355 and rs 11101357) and one SNP in PLXDC2 (rs1571942) were genotyped in all study subjects using TaqMan SNP genotyping assay and genotype frequencies were calculated by statistical analysis.
Marginal association was observed in one SNP of ARHGAP22 (rs 11101357, p= 0.017) with genotypic frequency, whereas insignificant association was detected in the distribution of ARHGAP22 (rs11101355, p = 0.63) and PLXDC2 (rs1571942, p = 0.45) between cases and the controls.
Our data suggests that the genetic variants of ARHGAP22 and PLXDC2 did not differ significantly between the DR and NDR group. However one genetic variant in ARHGAP22 (rs11101357) shows marginal association with DR in Indian population. This is the first study to report ARHGAP22 and PLXDC2 gene polymorphisms in patients with DR in the Indian Population.
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