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Title: Association Study Analysis for Genetic and Environmental Interaction of Variants in Candidate Genes for Inflammation ICAM CFH and Neuroprotection PEDF EPO in Type Diabetic Retinopathy Patients from South India
Researcher: Vinita Kumari
Guide(s): S. Sripriya
Keywords: Genetic and Environmental Interaction, Genes for Inflammation, Neuroprotection, Diabetic Retinopathy
University: Birla Institute of Technology and Science
Completed Date: 
Abstract: Diabetic retinopathy (DR), a major worldwide cause of permanent newlinevisual loss, contributed by numerous risk factors namely increased duration newlineof diabetes mellitus, severity of hypertension, hyperglycemia and exhibits newlinecomplex inheritance pattern. A substantial variability in the severity of DR, newlineobserved in diabetes people, sharing similar environmental and newlinedemographic background has been attributed to genetic influences. Pathway newlinecentric approaches in the dissection of complex disease etiology, is being newlineexplored to identify the potentially interacting factors regulating an newlineindividual s risk for the disease. In the current study, single nucleotide newlinepolymorphisms (SNPs) in the candidate genes for inflammation (ICAM-1 and newlineCFH) and neurodegeneration (PEDF and EPO) were selected and tested for newlineinteraction along with association in DR. newlineA total of 401 T2D subjects with and#8805;15 years of diabetes duration were newlinerecruited from Sankara Nethralaya Diabetic Retinopathy Epidemiology and newlineMolecular Genetic Study (SNDREAMS), an epidemiology project on the newlineprevalence of DR in T2D subjects from south India and the outpatient newlinedepartment of Sankara Nethralaya, a tertiary care hospital, in Chennai, newlineIndia. newlineSNPs in ICAM-1 (rs5498), CFH (rs1061170), EPO (rs1617640), and newlinePEDF (rs12150053, rs12948385) were genotyped by suitable PCR based newlinemethods (direct sequencing and RFLP). Multivariate analysis for various newlineclinical covariates was done using SPSS (v. 14). High order gene-gene newline(GxG) and gene-environment (GxE) interactions were determined using newlinegeneralized multifactor dimensionality reduction (GMDR) and classification newlineand regression tree (CART) method. Comparative assessment of structural newlinestability of the variants in K469E was assessed using bioinformatics tools newlinelike ModellerV97, MuPro, STRIDE etc. newlineGenotype distributions for all the SNPs were in Hardy-Weinberg newlineequilibrium (gt0.05) in both cases and controls. Significant association was newlineobserved for the AA genotype of rs5498 of ICAM-1 gene and was frequently newlinexviii newlinerepresented in the cases (p = 0.012);
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Appears in Departments:Biological Science

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