RGD Reference Report - Role of functional single nucleotide polymorphisms of MMP1, MMP2, and MMP9 in open angle glaucomas. - Rat Genome Database

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Role of functional single nucleotide polymorphisms of MMP1, MMP2, and MMP9 in open angle glaucomas.

Authors: Mossbock, G  Weger, M  Faschinger, C  Zimmermann, C  Schmut, O  Renner, W  El-Shabrawi, Y 
Citation: Mossbock G, etal., Mol Vis. 2010 Aug 28;16:1764-70.
RGD ID: 8549725
Pubmed: PMID:20808730   (View Abstract at PubMed)
PMCID: PMC2929940   (View Article at PubMed Central)

PURPOSE: 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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MMP1Humanexfoliation syndrome no_associationIAGP DNA:insertion:promoter:g.-1607insG rs1799750 (human)RGD 
MMP9Humanexfoliation syndrome no_associationIAGP DNA:insertion: :p.Q279R (rs17576) (human)RGD 
Mmp1Ratexfoliation syndrome no_associationISOMMP1 (Homo sapiens)DNA:insertion:promoter:g.-1607insG rs1799750 (human)RGD 
Mmp1aMouseexfoliation syndrome no_associationISOMMP1 (Homo sapiens)DNA:insertion:promoter:g.-1607insG rs1799750 (human)RGD 
Mmp9Ratexfoliation syndrome no_associationISOMMP9 (Homo sapiens)DNA:insertion: :p.Q279R (rs17576) (human)RGD 
Mmp9Mouseexfoliation syndrome no_associationISOMMP9 (Homo sapiens)DNA:insertion: :p.Q279R (rs17576) (human)RGD 
MMP1Humanprimary open angle glaucoma no_associationIAGP DNA:insertion:promoter:g.-1607insG rs1799750 (human)RGD 
MMP9Humanprimary open angle glaucoma no_associationIAGP DNA:insertion: :p.Q279R (rs17576) (human)RGD 
Mmp1Ratprimary open angle glaucoma no_associationISOMMP1 (Homo sapiens)DNA:insertion:promoter:g.-1607insG rs1799750 (human)RGD 
Mmp1aMouseprimary open angle glaucoma no_associationISOMMP1 (Homo sapiens)DNA:insertion:promoter:g.-1607insG rs1799750 (human)RGD 
Mmp9Ratprimary open angle glaucoma no_associationISOMMP9 (Homo sapiens)DNA:insertion: :p.Q279R (rs17576) (human)RGD 
Mmp9Mouseprimary open angle glaucoma no_associationISOMMP9 (Homo sapiens)DNA:insertion: :p.Q279R (rs17576) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mmp1  (matrix metallopeptidase 1)
Mmp9  (matrix metallopeptidase 9)

Genes (Mus musculus)
Mmp1a  (matrix metallopeptidase 1a (interstitial collagenase))
Mmp9  (matrix metallopeptidase 9)

Genes (Homo sapiens)
MMP1  (matrix metallopeptidase 1)
MMP9  (matrix metallopeptidase 9)


Additional Information