Genetic Analysis of Axial Length Genes in High Grade Myopia from Indian Population

Overview

Journal Meta Gene

Publisher Elsevier

Specialty Genetics

Date 2015 Jan 22

PMID 25606400

Citations 3

Authors

Ferdinamarie Sharmila

Abinayapriya

Karthikeyan Ramprabhu

Govindasamy Kumaramanickavel

R R Sudhir

Sarangapani Sripriya

Affiliations

Soon will be listed here.

Abstract

Purpose: To study the putative association of Membrane frizzled related protein (MFRP) and Visual system homeobox protein (VSX2) gene variants with axial length (AL) in myopia.

Method: A total of 189 samples with (N = 98) and without (N = 91) myopia were genotyped for the MRFP and VSX2 variations in ABI Prism 3100 AVANT genetic analyzer. Genotype/haplotype analysis was performed using PLINK, Haploview and THESIAS softwares.

Results: Fifteen variations were observed in the MFRP gene of which, rs36015759 (c.492C > T, T164T) in exon 5 was distributed at a high frequency in the controls and significantly associated with a low risk for myopia (P = 4.10 ∗ e(- 07) OR < 1.0). An increased frequency for the coding haplotype block [CGTCGG] harboring rs36015759 was observed in controls (31%) than cases (8%) that also correlated with a decreased mean AL (- 1.35085; P = 0.000444) by THESIAS analysis. The 'T' allele of rs36015759 was predicted to abolish the binding site for splicing enhancer (SRp40) by FASTSNP analysis.

Conclusion: Myopia is a complex disorder influenced by genetic and environmental factors. Our work shows evidence of association of a specific MFRP haplotype which was more prevalent in controls with decreased AL. However, replication and functional studies are warranted to confirm these findings.

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