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


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.
Hinterseher
I
I
Department of Visceral, Thoracic, and Vascular Surgery, Technical University of Dresden, Dresden, Germany. irene.hinterseher@uniklinikum-dresden.de
Bergert
H
H
Kuhlisch
E
E
Bloomenthal
A
A
Pilarsky
Ch
Ch
Ockert
D
D
Schellong
S
S
Saeger
H D
HD
Krex
D
D
D000368:Aged; D000369:Aged, 80 and over; D017544:Aortic Aneurysm, Abdominal / Q000453:epidemiology* / Q000235:genetics*; D016022:Case-Control Studies; D017931:DNA Primers; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D005838:Genotype; D006801:Humans; D008297:Male; D020778:Matrix Metalloproteinase 2 / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D044465:White People / Q000235:genetics
D017931:DNA Primers; D020778:Matrix Metalloproteinase 2