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尼泊尔人群中肝细胞生长因子(HGF)基因与原发性闭角型青光眼的关联。

The association of hepatocyte growth factor (HGF) gene with primary angle closure glaucoma in the Nepalese population.

作者信息

Awadalla Mona S, Thapa Suman S, Burdon Kathryn P, Hewitt Alex W, Craig Jamie E

机构信息

Department of Ophthalmology, Flinders University, Flinders Medical Centre Adelaide, South Australia.

出版信息

Mol Vis. 2011;17:2248-54. Epub 2011 Aug 19.

Abstract

PURPOSE

Genetic variation in the hepatocyte growth factor (HGF) gene has recently been associated with hyperopia, which is a known risk factor for primary angle closure glaucoma (PACG). This study aimed to investigate whether genetic variation in HGF is associated with primary angle closure glaucoma in the Nepalese population.

METHODS

One hundred six Nepalese patients with primary angle closure glaucoma and 204 matched controls were recruited. Twelve tag single nucleotide polymorphisms (SNPs) were selected and genotyped to cover the majority of common variation within HGF. Genotype and haplotype analyses were conducted in PLINK.

RESULTS

Four HGF SNPs were found to be significantly associated with PACG, rs5745718, rs12536657, rs12540393 and rs17427817 (p=0.002, 0.002, 0.0006, and 0.0006, respectively). In addition, haplotype analysis showed one common haplotype to be significantly associated with PACG (p=0.001) in this population.

CONCLUSIONS

Genetic variation in HGF is associated with PACG in the Nepalese population. Additional replication studies in other populations are necessary to confirm this association and to further explore the role of HGF in the pathogenesis of this blinding disease.

摘要

目的

肝细胞生长因子(HGF)基因的遗传变异最近被发现与远视有关,而远视是原发性闭角型青光眼(PACG)的已知危险因素。本研究旨在调查HGF基因变异是否与尼泊尔人群中的原发性闭角型青光眼相关。

方法

招募了106例尼泊尔原发性闭角型青光眼患者和204例匹配的对照。选择了12个标签单核苷酸多态性(SNP)进行基因分型,以涵盖HGF内的大部分常见变异。在PLINK中进行基因型和单倍型分析。

结果

发现4个HGF SNP与PACG显著相关,分别为rs5745718、rs12536657、rs12540393和rs17427817(p值分别为0.002、0.002、0.0006和0.0006)。此外,单倍型分析显示,在该人群中,一种常见单倍型与PACG显著相关(p = 0.001)。

结论

HGF基因变异与尼泊尔人群中的PACG相关。需要在其他人群中进行额外的重复研究,以证实这种关联,并进一步探索HGF在这种致盲疾病发病机制中的作用。

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