Polymorphisms of the coagulation factor Ⅶ gene and its plasma levels in relation to acute cerebral infarction differences in allelic frequencies between Chinese Han and European populations

Background Coagulation factor Ⅶ (F Ⅶ) levels in plasma are usually related to ischemic heart disease (IHD) and cerebral infarction shares many of the risk factors related to IHD. Is there any relationship between factor Ⅶ and cerebral infarction? We investigated the relationship between F Ⅶ and acute cerebral infarction and reported genotype frequencies and allelic frequencies of FⅦ gene polymorphisms in the Chinese Han population. Methods We recruited 62 patients with acute cerebral infarction confirmed by magnetic resonance imaging (MRI) from Ruijin Hospital,and 149 age-matched patients clinically free of vascular disease to act as controls. All of them were unrelated,and were from the Chinese Han population. FⅦ coagulant activity (FⅦc) was determined using an clotting assay,activated FⅦ (FⅦa) and FⅦ Ag were assayed using enzyme immunoassay kits. The FⅦ gene polymorphisms to be detected included-401G/T,-402G/A,5’F7A1/A2,IVS7 and R353Q. 5’F7 and IVS7 were revealed by means of a PCR and direct agarose gel electrophoresis. The rest were examined by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results The results showed that FⅦc,FⅦAg and FⅦa were higher in the acute cerebral infarction group than in the control group ( P <0.01, P <0.05, P <0.05,respectively). There were no significant differences in the genotype frequencies of FⅦ gene polymorphisms between the two groups. The allelic frequencies in the Chinese Han population were as follows: -401G/T (96.64/3.36), -402G/A (52.01/47.99),5’F7A1/A2(96.64/3.36),IVS7 H5/H6/H7/H8 (0.34/52.35/46.98/0.34) and R353Q (95.64/4.36). There were significant differences ( P <0.01, P <0.001, P <0.001, P <0.001, P <0.001,respectively) in these allelic frequencies between the Chinese Han and European populations. Conclusions The results indicate that increased plasma FⅦ levels may contribute to thrombosis in cerebral infarction. And there was no significant difference in genotype frequencies of these five FⅦ gene polymorphisms between the acute cerebral infarction and control groups. Moreover,these results showed that the frequencies of protective allele, including -401T,5’F7 A2 and 353Q were lower, but that -402A, which was previously found to be associated with increased plasma FⅦ levels,is higher in Chinese Han population.