title: Polymorphisms in matrix metalloproteinases MMP1 and MMP9 are associated with primary open-angle and angle closure glaucoma in a Pakistani population.
abstract: OBJECTIVE
  Matrix metalloproteinases (MMPs) play an important role in remodeling of the extracellular matrix during development and growth of various tissues including the eye. Various functional polymorphisms in MMPs have been implicated in the pathogenesis of different types of glaucoma. The aim of the present study was to investigate the role of various polymorphisms in Pakistani patients with glaucoma.
  
  
  METHODS
  The present case-control study included 112 patients with primary open-angle glaucoma (POAG), 82 patients with primary angle closure glaucoma (PACG), and 118 control subjects. Genotyping of polymorphisms was done using PCR followed by restriction fragment length polymorphism analysis.
  
  
  RESULTS
  A significant difference in the genotype frequencies of MMP1 rs1799750 (-1607 1G/2G) was observed between the patients with POAG and the control subjects (p = 0.001). This was attributed to the female subjects (p < 0.001), while the association was not significant in male subjects (p > 0.47). In addition, a significant difference was observed in genotype frequencies of MMP9 rs17576 (c.836A>G) in patients with PACG compared to the control subjects (p < 0.001), which after gender stratification remained significant in men (p = 0.009) but not in women (p = 0.14). No significant associations were found for MMP7 (c.-181T>C) and MMP9 (c.-1562C>T) polymorphisms.
  
  
  CONCLUSIONS
  Our data suggest that the MMP1 rs1799750 (-1607 1G/2G) and MMP9 rs17576 polymorphisms might be of value for further study as potential gender-dependent risk factors for developing POAG and PACG, respectively, in Pakistan.
authors: Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan. shaziamicheal@gmail.com
authors: Shazia
authors: S
authors: Micheal
authors: Sajeela
authors: S
authors: Yousaf
authors: Muhammad Imran
authors: MI
authors: Khan
authors: Farah
authors: F
authors: Akhtar
authors: Farah
authors: F
authors: Islam
authors: Wajid Ali
authors: WA
authors: Khan
authors: Anneke I
authors: AI
authors: den Hollander
authors: Raheel
authors: R
authors: Qamar
authors: Asifa
authors: A
authors: Ahmed
mesh_terms: D016022:Case-Control Studies; D005260:Female; D015812:Glaucoma, Angle-Closure / Q000201:enzymology* / Q000235:genetics*; D005902:Glaucoma, Open-Angle / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008297:Male; D020781:Matrix Metalloproteinase 1 / Q000235:genetics*; D020780:Matrix Metalloproteinase 9 / Q000235:genetics*; D008875:Middle Aged; D010154:Pakistan; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: C579270:MMP9 protein, human; D020780:Matrix Metalloproteinase 9; C522360:MMP1 protein, human; D020781:Matrix Metalloproteinase 1