title: Role of functional single nucleotide polymorphisms of MMP1, MMP2, and MMP9 in open angle glaucomas.
abstract: OBJECTIVE
  Matrix metalloproteinases (MMPs) play an essential role in the turnover of the extracellular matrix and cellular behavior. MMP1, MMP2, and MMP9 have previously been implicated in the pathogenesis of primary open angle glaucoma (POAG) and open angle glaucoma secondary to exfoliation syndrome (XFG), respectively. Functional gene polymorphisms of these MMPs such as MMP1 -1607 1G/2G (rs1799750), MMP2 -1306 C/T (rs243865), MMP2 -1575 G/A (rs243866), and MMP9 Q279R (rs17576) are thus plausible candidates as risk factors for open angle glaucomas. The purpose of the present study was to investigate hypothesized associations between these polymorphisms and the presence of POAG and XFG in a Caucasian population.
  
  
  METHODS
  The present case-control study included 322 patients with POAG, 202 patients with XFG, and 248 control subjects. Genotyping of polymorphisms was done using polymerase chain reaction.
  
  
  RESULTS
  No significant differences in either genotype distributions or allelic frequencies of MMP1 -1607 1G/2G, MMP2 -1306 C/T, MMP2 -1575 G/A, and MMP9 Q279R were found between patients with POAG and control subjects and patients with XFG and control subjects, respectively (p>0.05). The presence of POAG or XFG was not predicted by any of the investigated polymorphisms.
  
  
  CONCLUSIONS
  Our data suggest that the MMP1 -1607 1G/2G, MMP2 -1306 C/T, MMP2 -1575 G/A, and MMP9 Q279R polymorphisms themselves are unlikely major risk factors among Caucasian patients with either POAG or XFG.
authors.affiliation: Department of Ophthalmology, Medical University of Graz, Graz, Austria. g.mossboeck@medunigraz.at
authors.forename: Georg
authors.initials: G
authors.lastname: Mossböck
authors.forename: Martin
authors.initials: M
authors.lastname: Weger
authors.forename: Christoph
authors.initials: C
authors.lastname: Faschinger
authors.forename: Christine
authors.initials: C
authors.lastname: Zimmermann
authors.forename: Otto
authors.initials: O
authors.lastname: Schmut
authors.forename: Wilfried
authors.initials: W
authors.lastname: Renner
authors.forename: Yosuf
authors.initials: Y
authors.lastname: El-Shabrawi
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D017889:Exfoliation Syndrome / Q000201:enzymology / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D016015:Logistic Models; D008297:Male; D020781:Matrix Metalloproteinase 1 / Q000235:genetics; D020778:Matrix Metalloproteinase 2 / Q000235:genetics; D020780:Matrix Metalloproteinase 9 / Q000235:genetics; D020782:Matrix Metalloproteinases / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D020782:Matrix Metalloproteinases; C522361:MMP2 protein, human; D020778:Matrix Metalloproteinase 2; D020780:Matrix Metalloproteinase 9; C522360:MMP1 protein, human; D020781:Matrix Metalloproteinase 1
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