Association of genetic variants of hemostatic genes with myocardial infarction in Egyptian patients

作者：Abd El Fattah Amal Ahmed; Sadik Nermin Abdel Hamid; Sedrak Heba; Battah Ahmed; Nabil Mai^*

来源：Gene, 2018, 641: 212-219.

DOI：10.1016/j.gene.2017.10.043

• Myocardial infarction
• Prothrombin
• FXIII
• Fibrinogen
• Polymorphism

Hemostatic genes polymorphisms are well known to be associated with venous thrombosis, but their association with arterial thrombosis especially myocardial infarction (MI) remains to be clarified. We investigated the role of three hemostatic gene polymorphisms, prothrombin G20210A, factor XIII (FXIII) Va134Leu (G/T), and fibrinogen-beta-455G/A and their coexistence in Egyptian patients with MI. The possible correlation of these polymorphisms with plasma fibrinogen level was also evaluated. The study included 120 patients with MI and 60 healthy volunteers. Gene polymorphisms were tested using multiplex polymerase chain reaction and reverse hybridization technique. Plasma fibrinogen level was determined by ELISA. Our study showed an increased risk of MI with fibrinogen beta-455G/A heterozygosity as well as FXIII Va134Leu homo and heterozygosity. In addition, the FXIII T allele (Leu34) and fibrinogen beta-455A allele were significantly associated with MI. Conversely, the prevalence of prothrombin mutation did not differ between patients with MI and controls. Combined carriers of FXIII Leu34 and fibrinogen-beta 455A alleles were at higher risk of MI, whereas combined FXIII Va134Leu and prothrombin 20210A polymorphisms did not show increased risk for MI compared with controls. Plasma fibrinogen levels were significantly higher in patients with MI than controls. In MI patients, plasma fibrinogen levels were significantly higher in those with FXIII GT/TT or fibrinogen beta-455 GA, while were significantly lower in those with prothrombin 20210 GA compared with patients with wild type genotypes. In conclusion, our results suggest a possible thrombotic predisposition of FXIII Va134Leu, fibrinogen beta-455G/A polymorphisms and their coexistence for MI. These polymorphisms may add complexity to disease pathology by increasing plasma fibrinogen level. Extended studies are needed to confirm our results; nevertheless, these data may be implicated in genetic counseling and screening of high-risk individuals.

• 出版日期2018-1-30