title: Polymorphisms in the myocilin promoter unrelated to the risk and severity of primary open-angle glaucoma.
abstract: OBJECTIVE
  To investigate the proximal 2.5 kb promoter in the myocilin (MYOC) gene for mutations in Chinese patients with primary open-angle glaucoma (POAG).
  
  
  METHODS
  We screened for sequence alterations in the MYOC promoter in 88 unrelated Chinese patients with POAG and 94 unrelated individuals without glaucoma, aged 50 years or above, as control subjects. In addition, the specific MYOC.mt1 polymorphism was determined in a total of 212 POAG patients and 221 control subjects. The relationships between POAG phenotype and the identified polymorphisms were studied by univariate analysis, multivariable logistic regression analysis, and haplotype analysis.
  
  
  RESULTS
  All polymorphisms identified in this study followed Hardy-Weinberg equilibrium (P > 0.12) both in POAG patients and controls. Both univariate and multivariable logistic regression analyses showed no polymorphism that was significantly associated with the risk of POAG, P > 0.08 and P > 0.044 respectively. Haplotype analysis further indicated no association of MYOC promoter polymorphisms with the susceptibility for POAG (P > 0.1). On the other hand, there was no difference of POAG phenotypes among different genotypes of MYOC.mt1 (P > 0.31).
  
  
  CONCLUSIONS
  In this study on the Chinese population, polymorphisms in the MYOC promoter are not related to the risk of POAG. There is no association between the MYOC.mt1 promoter polymorphism with the severity of POAG.
authors.affiliation: Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong.
authors.forename: Bao-Jian
authors.initials: BJ
authors.lastname: Fan
authors.forename: Yuk-Fai
authors.initials: YF
authors.lastname: Leung
authors.forename: Chi-Pui
authors.initials: CP
authors.lastname: Pang
authors.forename: Dorothy S P
authors.initials: DS
authors.lastname: Fan
authors.forename: Dan-Yi
authors.initials: DY
authors.lastname: Wang
authors.forename: Wing-Chiu
authors.initials: WC
authors.lastname: Tong
authors.forename: Pancy O S
authors.initials: PO
authors.lastname: Tam
authors.forename: John K H
authors.initials: JK
authors.lastname: Chua
authors.forename: Tung-Ching
authors.initials: TC
authors.lastname: Lau
authors.forename: Dennis S C
authors.initials: DS
authors.lastname: Lam
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D003598:Cytoskeletal Proteins; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000235:genetics / Q000503:physiopathology*; D006023:Glycoproteins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D010641:Phenotype; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D012720:Severity of Illness Index; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin