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Updated: Apr 18, 2026

Inducement and Evaluation of a Murine Model of Experimental Myopia
Published on: January 22, 2019
Genetic analysis of axial length genes in high grade myopia from Indian population
Ferdinamarie Sharmila1, Abinayapriya2, Karthikeyan Ramprabhu3
1SN ONGC, Department of Genetics and Molecular Biology, Vision Research Foundation, India ; Birla Institute of Technology & Science (BITS), Pilani, 333 031 Rajasthan, India.
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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