RGD Reference Report - Matrix metalloproteinase 2 polymorphisms in a caucasian population with abdominal aortic aneurysm. - Rat Genome Database

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Matrix metalloproteinase 2 polymorphisms in a caucasian population with abdominal aortic aneurysm.

Authors: Hinterseher, I  Bergert, H  Kuhlisch, E  Bloomenthal, A  Pilarsky, CH  Ockert, D  Schellong, S  Saeger, HD  Krex, D 
Citation: Hinterseher I, etal., J Surg Res. 2006 Jun 15;133(2):121-8. Epub 2006 Feb 3.
RGD ID: 1582621
Pubmed: PMID:16458924   (View Abstract at PubMed)
DOI: DOI:10.1016/j.jss.2005.12.001   (Journal Full-text)

BACKGROUND: The formation of sporadic abdominal aortic aneurysm (AAA) is explained by remodeling of the extracellular matrix (ECM) and breakdown of structural components of the vascular wall. Matrix metalloproteinase 2 (MMP2) is one of the principal matrix-degrading proteases and is known to play a major role in the remodeling of the extracellular matrix in arterial vessels. Increased MMP2 expression in the extracellular matrix of the walls of AAAs has been shown in several studies. To investigate the possible impact of genetic variants of the MMP2 gene in the etiology of AAA, we conducted this case-control study. PATIENTS AND METHODS: We analyzed MMP2 single-nucleotide polymorphisms (SNPs) in 51 patients with AAA and 48 controls. Differences in genotype and allele frequencies of identified polymorphisms were determined after sequencing the entire coding region and three selected parts of the promoter. RESULTS: Eighteen polymorphisms were identified, 6 of which are newly described, with 3 located in the introns (c.IVS1+31C>G, c.IVS7-18G>A, c.IVS10+26C>T) and 3 located in the coding region (c.124G>A, c.1368C>T, c.1860C>T). There were no statistically significant differences in genotype or allele frequencies between the two groups. CONCLUSIONS: Our analysis of the entire coding region and three parts of the promoter of the MMP2 gene failed to show an association between genetic polymorphisms and AAA, suggesting that variations in the MMP2 gene do not contribute to the development of AAA.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MMP2Humanabdominal aortic aneurysm no_associationIAGP  RGD 
Mmp2Ratabdominal aortic aneurysm no_associationISOMMP2 (Homo sapiens) RGD 
Mmp2Mouseabdominal aortic aneurysm no_associationISOMMP2 (Homo sapiens) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mmp2  (matrix metallopeptidase 2)

Genes (Mus musculus)
Mmp2  (matrix metallopeptidase 2)

Genes (Homo sapiens)
MMP2  (matrix metallopeptidase 2)


Additional Information