title: [Single nucleotide polymorphisms of the myocilin gene in primary open-angle glaucoma patients].
abstract: OBJECTIVE
  To detect single nucleotide polymorphisms (SNPs) of the myocilin (MYOC) gene and to investigate their associations with primary open-angle glaucoma (POAG).
  
  
  METHODS
  One hundred and fifty-seven sporadic patients with POAG and 155 unrelated control subjects without POAG were recruited from staff and visitors to the Prince of Wales Hospital between 1998 and 2000. All study subjects are ethnic Chinese living in Hong Kong. The two populations were matched in frequencies of gender and age. The SNPs of the MYOC gene in POAG patients and control subjects were screened and identified by high throughout conformation sensitive gel electrophoresis and fluorescent labeling automated sequencing. The genotype frequencies of each SNP in the two groups were compared by the Chi2 test or Fisher's exact 2-tailed test.
  
  
  RESULTS
  A total of seventeen SNPs were identified from 2172 bp long of the MYOC gene, including all 3 exons and adjacent non-coding regions. The identified SNPs were 1-83G --> A, G12R, P16L, A17S, R46X, R76K, R91X, T123T, D208E, L215P, 730+35A --> G, A260A, I288I, E300K, T353I, Y471C and 1515+73G --> C, respectively. Of these, R91X, E300K and Y471C were found only in POAG patients. A significant difference between POAG patients and control subjects was found in the genotype frequencies of 1515+73G --> C. The frequency of the heterozygote (CG) was 0.6% in POAG patients, significantly less than the 4.5% in control subjects (Fisher's exact 2-tailed test, P=0.036, OR=0.136, 95%CI=0.022-0.828). No significant difference was found between the two populations in genotype frequencies of all other SNPs.
  
  
  CONCLUSIONS
  The polymorphisms of the MYOC gene may be related to POAG.
authors.affiliation: Department of Ophthalmology Visual Sciences, the Chinese University of Hong Kong, PR China.
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: Larry
authors.initials: L
authors.lastname: Baum
authors.forename: Oi-sin
authors.initials: OS
authors.lastname: Tam
authors.forename: Ning
authors.initials: N
authors.lastname: Wang
authors.forename: Shun-chiu
authors.initials: SC
authors.lastname: Lam
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D001483:Base Sequence; D016022:Case-Control Studies; D003598:Cytoskeletal Proteins; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000473:pathology; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D004247:DNA; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin