PL EN


Preferences help
enabled [disable] Abstract
Number of results
2003 | 44 | 1 | 85-93
Article title

Increased risk of the abdominal aortic aneurysm in carriers of the MTHFR 677T allele

Title variants
Languages of publication
EN
Abstracts
EN
Abdominal aortic aneurysm (AAA) presents itself as a progressive dilation of the abdominal aorta, leading ? if untreated ? to rupture. It is a common disease of the elderly, with a complex etiology. Several genetic, biochemical and environmental factors are recognized as relevant for the pathogenesis of AAA. We determined the polymorphism of the MTHFR (methylenetetrahydrofolate reductase) gene within the fourth exon (C677T) in 63 patients with AAA and compared it to that in 75 subjects of the population sample. The frequencies of the C/C, C/T and T/T genotypes were 65%, 27%, and 8% in the population sample and 33%, 60%, and 6% in the patients. This corresponds to a 4.4-fold greater risk of AAA in subjects who have the 677C/T variant of MTHFR, as compared with those who are 677C/C (p<0.0001; 95% CI=2.11-9.34). The frequency of allele MTHFR 677T in patients (0.37) was higher than in the population sample (0.21; p < 0.007). This association between the common allele of the MTHFR gene ? MTHFR 677T ? and the development of AAA suggests that elevated homocysteine (Hcy) may disturb the function of the aortic wall. The disturbance may involve enhancement of elastin degradation, the process enhanced by mild hyperhomocysteinemia in minipigs. The magnitude of this effect, which refers to the AAA patients unselected for familial occurrence, indicates that the disturbance of aortic wall physiology caused by the presence of the MTHFR 677T allele is greater than the effect of the earlier described allele disequilibrium at the polymorphic alleles of the PAI1 (plasminogen activator inhibitor 1) gene seen only in familial cases of AAA.
Discipline
Publisher

Year
Volume
44
Issue
1
Pages
85-93
Physical description
Contributors
author
author
author
author
References
Document Type
ARTICLE
Publication order reference
E. Strauss, Institute of Human Genetics, Polish Academy of Sciences, ul. Strzeszynska 32, 60-479 Poznan, Poland
Identifiers
YADDA identifier
bwmeta1.element.element-from-psjc-7d7a5a07-44e0-30f6-a34e-ab9ce846248c
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.