title: Haplotype analysis of association of the MYOC gene with primary angle-closure glaucoma in a Han Chinese population.
abstract: OBJECTIVE
  The aim of this study is to examine whether or not myocilin (MYOC) genetic variations are associated with susceptibility to primary angle-closure glaucoma (PACG) in the Han Chinese population.
  
  
  METHODS
  Four single-nucleotide polymorphisms (SNPs)-rs235913, rs183532, rs12076134, and rs235875-in the MYOC gene were genotyped in 212 adult patients with PACG and 255 age-, sex-, and ethnic-matched healthy controls by using a polymerase chain reaction-restriction fragment length polymorphism assay. Data were analyzed by chi-square analysis.
  
  
  RESULTS
  The four SNPs in the MYOC gene were in the Hardy-Weinberg equilibrium in all the subjects. The frequencies of A allele rs183532 were significantly different between the PACG patients and the controls (0.238 vs. 0.169, p=0.008; OR=1.541; 95% CI: 1.117-2.127). The frequencies of the AA genotype and A allele of rs235913 were increased in PACG patients compared with controls, but the difference was not significant (p=0.037, p=0.017, respectively). A comparison of the distributions of the genotypes and alleles of rs12076134 and rs235875 showed no statistically significant differences between the PACG patients and the controls (p>0.05). Haplotype analysis indicated that the frequency of the AATG and AATA haplotypes was significantly higher for PACG patients than for control subjects (both p<0.001). However, the frequency of CGGA and CGTG haplotypes was lower for PACG patients than for control subjects (p<0.001).
  
  
  CONCLUSIONS
  Our study suggests that rs183532 is associated with an increased risk of PACG in the Chinese Han population.
authors.affiliation: 1 Department of Ophthalmology, General Hospital of Chinese People's Liberation Army , Beijing, China .
authors.forename: Xin
authors.initials: X
authors.lastname: Jin
authors.forename: Da-Jiang
authors.initials: DJ
authors.lastname: Wang
authors.forename: Ling-Hui
authors.initials: LH
authors.lastname: Qu
authors.forename: Bao-Ke
authors.initials: BK
authors.lastname: Hou
authors.forename: Yan
authors.initials: Y
authors.lastname: Gong
authors.forename: Wei-Wei
authors.initials: WW
authors.lastname: Xu
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000208:ethnology; D002681:China / Q000208:ethnology; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D015812:Glaucoma, Angle-Closure / Q000208:ethnology / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin