title: 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.
abstract: BACKGROUND
  Coagulation factor VII (FVII) 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 FVII 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.
authors.affiliation: Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China. minikang@sina.com.cn
authors.forename: Wen-ying
authors.initials: WY
authors.lastname: Kang
authors.forename: Hong-li
authors.initials: HL
authors.lastname: Wang
authors.forename: Li-fan
authors.initials: LF
authors.lastname: Xiong
authors.forename: Xue-feng
authors.initials: XF
authors.lastname: Wang
authors.forename: Hai-yan
authors.initials: HY
authors.lastname: Chu
authors.forename: Bin
authors.initials: B
authors.lastname: Qu
authors.forename: Xiang-fan
authors.initials: XF
authors.lastname: Liu
authors.forename: Jun
authors.initials: J
authors.lastname: Yin
authors.forename: Bao-hua
authors.initials: BH
authors.lastname: Duan
authors.forename: Zhen-yi
authors.initials: ZY
authors.lastname: Wang
mesh_terms: D000208:Acute Disease; D044466:Asian People / Q000235:genetics; D002544:Cerebral Infarction / Q000235:genetics*; D002681:China; D005060:Europe; D005167:Factor VII / Q000032:analysis* / Q000235:genetics*; D005787:Gene Frequency; D006801:Humans; D020767:Intracranial Thrombosis / Q000235:genetics; D011110:Polymorphism, Genetic; D044465:White People / Q000235:genetics
chemical_list: D005167:Factor VII