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中国南方人群中亮蛋白聚糖基因多态性与高度近视的关联

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

作者信息

Wang Gui-Fang, Ji Qing-Shan, Qi Bing, Yu Guo-Cheng, Liu Lian, Zhong Jing-Xiang

机构信息

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.

出版信息

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

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 (<0.05). However, there were no significant differences in rs181915277 and rs577456426 between the two groups (>0.05).

CONCLUSION

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

摘要

目的

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。

方法

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。

结果

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)。

结论

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。

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