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

作者：Oszajca Katarzyna^*; Wronski Konrad; Janiszewska Grazyna; Bienkiewicz Malgorzata; Panek Michal; Bartkowiak Jacek; Szemraj Janusz

来源：Experimental and Therapeutic Medicine, 2012, 4(3): 514-518.

DOI：10.3892/etm.2012.608

• abdominal aortic aneurysm
• factor V 1691 G/A polymorphism
• factor VII-323 0/10 bp polymorphism
• fibrinogen beta-chain-455 G/A polymorphism
• restriction fragment length polymorphism

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 (3 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 p 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 beta chain gene is a potential genetic marker to identify the risk of AAA.

• 出版日期2012-9