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. 2017 Oct 18;10(10):1516-1520.
doi: 10.18240/ijo.2017.10.06. eCollection 2017.

The association of lumican polymorphisms and high myopia in a Southern Chinese population

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Free PMC article

The association of lumican polymorphisms and high myopia in a Southern Chinese population

Gui-Fang Wang et al. Int J Ophthalmol. .
Free PMC article

Abstract

Aim: To investigate the correlation between lumican (LUM) gene and high myopia in a Southern Chinese population.

Methods: The study comprised of 95 high myopia patients with a spherical equivalent ≤-6.5 diopters (D). The control group recruited 95 individuals with a spherical equivalent ranging from -0.5 D to +0.5 D. Direct sequencing was used to detect the single nucleotide polymorphisms (SNPs) of LUM gene in coding region. Genotype distributions were tested for Hardy-Weinberg disequilibrium. Genotypic and allelic frequencies were analyzed through Chi-square test or Fisher's exact test.

Results: We identified 3 SNPs of the LUM gene: LUM c.32 (rs577456426), LUM c.507 (rs17853500) and LUM c.849 (rs181915277). Among the three SNPs, the genotype and allele frequencies of rs17853500 showed a significant difference between patients and control subjects (P<0.05). However, there were no significant differences in rs181915277 and rs577456426 between the two groups (P>0.05).

Conclusion: LUM c.507 polymorphism may be a risk factor for the pathogenesis of high myopia in the Southern Chinese population.

Keywords: high myopia; lumican; sclera; single nucleotide polymorphisms.

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