Abstract
PurposeThe aim of this study is to examine whether or not hepatocyte growth factor (HGF) genetic variations are associated with susceptibility to primary angle-closure glaucoma (PACG) in the Han Chinese population.MethodsThree single-nucleotide polymorphisms (SNPs)–rs5745718, rs17427817, and rs3735520–in the HGF gene were genotyped in 238 adult patients with PACG and 287 age-, sex-, and ethnically matched healthy controls by using a polymerase chain reaction restriction fragment length polymorphism assay. Data was analyzed by χ2 analysis.ResultsThe three tested analyzed polymorphisms in the HGF gene were in Hardy-Weinberg equilibrium, in all the subjects. The frequencies of the genotype and allele of rs5745718 and rs1742817 in the HGF gene were significantly different between the PACG patients and the controls. On one hand, the frequencies of the CC genotype and C allele of rs5745718 were significantly decreased in PACG patients compared with controls (Pc = 1.40×10−3; Pc = 3.21×10−4, respectively); however, on the other hand, significantly decreased frequencies of the GG genotype and the G allele of rs17427817 were observed in PACG patients compared with the controls (Pc = 0.006,; Pc = 6.06×10−4, respectively). A comparison of the distributions of the genotypes and alleles of rs3735520 showed no statistically significant differences between the PACG patients and the controls (pc>0.05). The haplotype analysis results showed that the CGC haplotype frequency was significantly decreased in the patients with PACG compared with the controls (pc<0.001). No difference was detected between the patients and the controls with regard to the other haplotypes.ConclusionsOur study suggests that rs5745718 and rs17427817 are associated with a decreased risk of PACG in the Chinese Han population. The CGC haplotype was demonstrated to possibly play a protective role against PACG in this population.
Highlights
Glaucoma is the second largest cause of blindness worldwide after cataracts
The frequencies of the genotype and the allele of rs5745718 and rs1742817 in the hepatocyte growth factor (HGF) gene were significantly different between the Primary angle-closure glaucoma (PACG) patients and the controls
The CGC haplotype frequency was significantly decreased in patients with PACG compared with the controls
Summary
Glaucoma is the second largest cause of blindness worldwide after cataracts. It is estimated that 70 million people suffer from glaucoma globally, and there will be 79.6 million people with glaucoma and about 11.2 million patients with bilateral blindness by 2020 [1]. Primary angle-closure glaucoma (PACG) has relatively high visual morbidity rates and accounts for half of all blind glaucoma patients in the Chinese Han population [2]. Several candidate genes are associated with PACG in different populations, including the matrix metalloproteinase-9 gene [11,12], myocilin [13], optineurin [14], and tumor necrosis factor-a [15]. These genes only partly explain the genetic predisposition to PACG, and more research is needed to determine the causative genes of this disease
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