title: Hepatocyte growth factor genetic variations and primary angle-closure glaucoma in the Han Chinese population.
abstract: OBJECTIVE
  The 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.
  
  
  METHODS
  Three 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 χ(2) analysis.
  
  
  RESULTS
  The 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.
  
  
  CONCLUSIONS
  Our 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.
authors.affiliation: Department of Ophthalmology, The Second Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.
authors.forename: Zhengxuan
authors.initials: Z
authors.lastname: Jiang
authors.forename: Kun
authors.initials: K
authors.lastname: Liang
authors.forename: Biqing
authors.initials: B
authors.lastname: Ding
authors.forename: Wei
authors.initials: W
authors.lastname: Tan
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Yunxia
authors.initials: Y
authors.lastname: Lu
authors.forename: Yuxin
authors.initials: Y
authors.lastname: Xu
authors.forename: Liming
authors.initials: L
authors.lastname: Tao
mesh_terms: D000368:Aged; D000483:Alleles; D044466:Asian People; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D015812:Glaucoma, Angle-Closure / Q000208:ethnology / Q000235:genetics*; D006239:Haplotypes; D017228:Hepatocyte Growth Factor / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: C066855:HGF protein, human; D017228:Hepatocyte Growth Factor