Wang Gui-Fang, Ji Qing-Shan, Qi Bing, Yu Guo-Cheng, Liu Lian, Zhong Jing-Xiang
Department of Ophthalmology, Loudi Central Hospital of Hunan, Loudi 417000, Hunan Province, China.
Department of Ophthalmology, the First Affiliated Hospital of Jinan University, Guangzhou 510630, Guangdong Province, China.
Int J Ophthalmol. 2017 Oct 18;10(10):1516-1520. doi: 10.18240/ijo.2017.10.06. eCollection 2017.
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.
研究中国南方人群中亮氨酸丰富蛋白聚糖(LUM)基因与高度近视之间的相关性。
该研究纳入了95例等效球镜度数≤-6.5屈光度(D)的高度近视患者。对照组招募了95例等效球镜度数在-0.5 D至+0.5 D之间的个体。采用直接测序法检测LUM基因编码区的单核苷酸多态性(SNP)。对基因型分布进行哈迪-温伯格平衡检验。通过卡方检验或费舍尔精确检验分析基因型和等位基因频率。
我们鉴定出LUM基因的3个SNP:LUM c.32(rs577456426)、LUM c.507(rs17853500)和LUM c.849(rs181915277)。在这3个SNP中,rs17853500的基因型和等位基因频率在患者和对照组之间存在显著差异(<0.05)。然而,两组之间rs181915277和rs577456426无显著差异(>0.05)。
LUM c.507多态性可能是中国南方人群高度近视发病机制的一个危险因素。