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

• Published in: International journal of ophthalmology Vol. 10; no. 10; pp. 1516 - 1520
• Main Authors: Wang, Gui-Fang, Ji, Qing-Shan, Qi, Bing, Yu, Guo-Cheng, Liu, Lian, Zhong, Jing-Xiang
• Format: Journal Article
• Language: English
• Published: China International Journal of Ophthalmology Press 18.10.2017; Press of International Journal of Ophthalmology (IJO PRESS)
• Subjects: 1520; Basic Research; high myopia; lumican; sclera; single nucleotide polymorphisms; lumican; sclera; high myopia; single nucleotide polymorphisms
• ISSN: 2222-3959; 2227-4898
• DOI: 10.18240/ijo.2017.10.06

To investigate the correlation between lumican (LUM) gene and high myopia in a Southern Chinese population. 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. 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 ( <0.05). However, there were no significant differences in rs181915277 and rs577456426 between the two groups ( >0.05). LUM c.507 polymorphism may be a risk factor for the pathogenesis of high myopia in the Southern Chinese population.