Genotypic variants of MYP2 Locus: Analysis for association with High Myopia

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Genotypic variants of MYP2 Locus: Analysis for association with High Myopia

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Title: Genotypic variants of MYP2 Locus: Analysis for association with High Myopia
Author: Rasool, Shabhat (Scholar); Andrabi, Khurshid Iqbal (Guide)
Abstract: Identification of genes involved in the progression of myopia is largely hampered by challenges inherent in mapping genes due to high prevalence, genetic heterogeneity, and wide clinical spectrum of the condition. Genetic mapping studies have identified at least 24 chromosomal loci suspected of harboring genes for myopia progression, MYP1–MYP24 of which MYP2 is considered to be a strong candidate gene locus. Environmental and genetic factors together are attributed to explain the spectrum of geographical and population dependent variations in the incidence of high myopia. Incidently researchers have come up with controversial results with regard to the association of MYP2 locus despite a varied spectrum of polymorphic changes reported in the genes harboured by the locus. The controversy is largely attributed to population heterogeneity. The purity of genetic traits associated with Kashmiri population is likely to minimize the influence of mixed risk/resistance alleles to reliably establish their potential association. One of the three SNPs observed in codon 10 of TGFβ1 showed a significant difference between patients and control subjects (rs1982073: p genotype=0.003, p allele=0.001). There were no statistically significant differences between patients and control subjects for the other two SNPs, rs1800471 at codon 25 and a novel variant at codon 52. In TGIF1 three adjacent novel intronic variations (T>C/A; p=0.04: T>G; p=0.02: G>C; p=0.01) and one novel missense sequence variation G26A (p = <0.001) were observed that show possible association with high myopia. G26A also segregates with gender and degree of myopia (p = 0.05). DLGAP1 gene revealed a total of two polymorphic variations among which G507A (P=1) was novel and one reported polymorphic variation G517A with a significant (P=<0.001) occurrence in affected population. G517A show association with gender and degree of myopia (p=<0.0001). A previously reported variant T451C observed in EMILIN2 gene did not appear to associate with disease phenotype. MYOM1 showed five polymorphic variations; two in coding region (G333A; P=<0.0001: G341C; P=0.005) and three intronic (G>A; P=< 0.0001: G>T & C>G; P= < 0.001) that potentially segregate with the disease phenotype. G333A shows a statistically significant association with gender (p = 0.01) and degree of myopia (p = 0.01) while G341C does not associate with any of the clinical parameters. Among intronic variations, G>T (rs55779127) and C>G (rs8096379) showed significant association with degree of myopia (p=<0.0001 & p=<0.001). The assessment of the ITASSER predicted protein structure showed change in energy for almost all mutants compared to wild type proteins. The results are indicative that the energy changes due to these polymorphic variations may have significant functional consequences.
URI: http://dspaces.uok.edu.in/jspui//handle/1/1483
Date: 2013


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