title: Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population.
abstract: OBJECTIVE
  To investigate the association between genetic variation at the matrix metalloproteinase-9 (MMP9) locus and primary angle closure glaucoma (PACG) in an Australian Caucasian population.
  
  
  METHODS
  A total of 107 Australian patients with PACG and 288 age and sex-matched controls were included in the current study. Tag single nucleotide polymorphisms (SNPs) were selected and genotyped to cover the majority of common variation within MMP9. Allele, genotype and haplotype association analyses were conducted using PLINK.
  
  
  RESULTS
  Two SNPs from MMP9, rs3918249 and rs17576 were significantly associated under the allelic model with p values of 0.006 for both SNPs. In addition, haplotype analysis revealed a protective haplotype TACGG to be significantly more frequent in controls (69%) than in PACG cases (59%), with p=0.006.
  
  
  CONCLUSIONS
  This study demonstrates an association between MMP9 SNPs rs3918249 and rs17576 and PACG in the Australian population, suggesting MMP9 may be involved in the pathogenesis of this blinding disease. Further replication will be helpful in confirming this finding before future clinical translation.
authors.affiliation: Ophthalmology Department, Flinders University, Adelaide, South Australia, Australia.
authors.forename: Mona S
authors.initials: MS
authors.lastname: Awadalla
authors.forename: Kathryn P
authors.initials: KP
authors.lastname: Burdon
authors.forename: Abraham
authors.initials: A
authors.lastname: Kuot
authors.forename: Alex W
authors.initials: AW
authors.lastname: Hewitt
authors.forename: Jamie E
authors.initials: JE
authors.lastname: Craig
mesh_terms: D000368:Aged; D000483:Alleles; D001315:Australia / Q000453:epidemiology; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D015812:Glaucoma, Angle-Closure / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D006239:Haplotypes; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D020780:Matrix Metalloproteinase 9 / Q000235:genetics*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D058609:Visual Field Tests; D014794:Visual Fields; D044465:White People / Q000208:ethnology / Q000235:genetics
chemical_list: D020780:Matrix Metalloproteinase 9