Vol 18, No 4 (2012)
Research paper
Published online: 2013-01-01
Matrix Metalloproteinase-13 (–77A > G) gene polymorphism is not a susceptibility factor of abdominal aortic aneurysm or aortoiliac occlusive disease in the Polish population
Acta Angiologica 2012;18(4):148-156.
Abstract
Abdominal aortic aneurysm (AAA) and aortoiliac occlusive disease (AIOD) are common vascular diseases with
both genetic and environmental risk factors involved. Matrix metalloproteinases (MMPs) play a major role in
the remodelling of the extracellular matrix of aorta, and their contribution to the pathogenesis of abdominal
aortic aneurysm is unquestionable. The purpose of this study was to examine the role of MMP13 (–77A>G)
gene polymorphism in the development of abdominal aortic aneurysm (AAA) or aortoiliac occlusive disease
(AIOD) in the Polish population. We investigated 925 individuals in 3 groups: AAA (n = 300), AIOD (n = 312),
and control (n = 313). The MMP13 (–77A>G) genotyping analysis was performed by PCR–RFLP methods
and gel electrophoresis. The MMP13 (–77A>G) genotype distribution and allele frequencies were consistent
with the Hardy-Weinberg equilibrium. No significant differences in genotype distribution and allele frequencies
between patients with the AAA or AIOD and the control group were observed. There were also no significant
differences in MMP13 (–77A>G) genotype distribution and allele frequencies between the study groups in
regard to gender, hypertension, myocardial infarction, or other risk factors. The results of our study indicate
that MMP13 (–77A>G) gene polymorphism is a susceptibility factor neither of abdominal aortic aneurysm
nor aortoiliac occlusive disease in the Polish population.
both genetic and environmental risk factors involved. Matrix metalloproteinases (MMPs) play a major role in
the remodelling of the extracellular matrix of aorta, and their contribution to the pathogenesis of abdominal
aortic aneurysm is unquestionable. The purpose of this study was to examine the role of MMP13 (–77A>G)
gene polymorphism in the development of abdominal aortic aneurysm (AAA) or aortoiliac occlusive disease
(AIOD) in the Polish population. We investigated 925 individuals in 3 groups: AAA (n = 300), AIOD (n = 312),
and control (n = 313). The MMP13 (–77A>G) genotyping analysis was performed by PCR–RFLP methods
and gel electrophoresis. The MMP13 (–77A>G) genotype distribution and allele frequencies were consistent
with the Hardy-Weinberg equilibrium. No significant differences in genotype distribution and allele frequencies
between patients with the AAA or AIOD and the control group were observed. There were also no significant
differences in MMP13 (–77A>G) genotype distribution and allele frequencies between the study groups in
regard to gender, hypertension, myocardial infarction, or other risk factors. The results of our study indicate
that MMP13 (–77A>G) gene polymorphism is a susceptibility factor neither of abdominal aortic aneurysm
nor aortoiliac occlusive disease in the Polish population.
Keywords: AAAabdominal aortic aneurysmAIODaortoiliac occlusive diseasegene polymorphismMMP13susceptibility factor