Association analysis of genetic polymorphisms of factor V, factor VII and fibrinogen β chain genes with human abdominal aortic aneurysm

Oszajca,Katarzyna; Wroński,Konrad; Janiszewska,Grażyna; Bieńkiewicz,Małgorzata; Panek,Michał; Bartkowiak,Jacek; Szemraj,Janusz

doi:10.3892/etm.2012.608

Association analysis of genetic polymorphisms of factor V, factor VII and fibrinogen β chain genes with human abdominal aortic aneurysm

Authors:
- Katarzyna Oszajca
- Konrad Wroński
- Grażyna Janiszewska
- Małgorzata Bieńkiewicz
- Michał Panek
- Jacek Bartkowiak
- Janusz Szemraj
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Affiliations: Department of Medical Biochemistry, Medical University of Lodz, Lodz 90-419, Poland, General and Vascular Surgery Department, M. Pirogow Regional Specialist Hospital, Lodz 90-531, Poland , Department of Quality Control and Radiological Protection, Medical University of Lodz, Lodz 92-216, Poland , Department of Internal Diseases, Asthma and Allergy, Medical University of Lodz, Lodz 90-153, Poland
Published online on: June 12, 2012 https://doi.org/10.3892/etm.2012.608
Pages: 514-518

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Abstract

Increased activity of the coagulation system is associated with the increased risk of many arterial thrombotic diseases and atherosclerosis. The purpose of this study was to evaluate the influence of selected polymorphisms in genes coding for coagulation factor V (1691 G/A, the so-called Leiden mutation), factor VII (-323 0/10 bp insertion/deletion) and fibrinogen β chain (-455 G/A) on the risk of abdominal aortic aneurysm, a particular form of atherothrombosis. We conducted a case-control study of 153 Polish patients hospitalized due to abdominal aortic aneurysm (AAA) and compared the results to those obtained from matched healthy control subjects. The polymorphisms were ascertained through genotyping by polymerase chain reaction and restriction digestion of amplified fragments. The study revealed that individuals carrying heterozygous genotype GA for the fibrinogen β chain -455 G/A mutation had at least a 2-fold greater likelihood of AAA development compared to control subjects (OR=3.01; 95% CI 1.83-4.96). The cases possessing homozygous mutant genotype (AA) had no significant risk of developing AAA compared to the control subjects (OR=1.12; 95% CI 0.33-2.44; p=0.83). Concerning factor V 1691 G/A and factor VII -323 0/10 bp mutations, we did not find any statistically significant correlation between them and AAA occurrence. In conclusion, we suggest that the -455G/A polymorphism of the fibrinogen β chain gene is a potential genetic marker to identify the risk of AAA.

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