The association of hepatocyte growth factor (HGF) gene with primary angle closure glaucoma in the Nepalese population
The association of hepatocyte growth factor (HGF) gene with primary angle closure glaucoma in the Nepalese population
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DOI：
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发表时间：
2011-08
期刊：
影响因子：
2.2
通讯作者：
Mona S Awadalla;S. Thapa;K. Burdon;A. Hewitt;J. Craig
中科院分区：
文献类型：
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作者：
Mona S Awadalla;S. Thapa;K. Burdon;A. Hewitt;J. Craig
目的肝细胞生长因子(HGF)基因的遗传变异与远视有关，远视是原发性闭角型青光眼(PACG)的危险因素。本研究旨在调查尼泊尔人群中HGF基因变异是否与原发性闭角型青光眼有关。方法选择106例尼泊尔原发闭角型青光眼患者和204例正常对照。选择了12个标签单核苷酸多态(SNPs)并进行了基因分型，以涵盖HGF中大多数常见的变异。用PLINK软件进行基因分型和单倍型分析。结果发现4个HGFSNPs与PACG、rs5745718、rs12536657、rs12540393和rs17427817显著相关(p分别为0.002、0.002、0.0006和0.0006)。此外，单倍型分析显示，该人群中一种常见的单倍型与帕金森病显著相关(p=0.001)。结论尼泊尔人群中HGF基因变异与PACG相关。在其他人群中进行更多的复制研究是必要的，以证实这种联系，并进一步探索HGF在这种致盲疾病的发病机制中的作用。
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.