title: The coagulation factor V Leiden, MTHFRC677T variant and eNOS 4ab polymorphism in young Chinese population with ischemic stroke.
abstract: BACKGROUND
  The mechanisms of ischemic stroke in young adults are poorly understood. The main goal of the current investigation was to determine the possible contribution of genes affecting hemostasis, homocysteine metabolism and endothelial function on the occurrence of ischemic stroke in a cohort of young cases and corresponding controls.
  
  
  METHODS
  We evaluated in 97 consecutive patients referred to our center between April 2006 and July 2007 for a history of young adult ischemic stroke (age at first event, <45 y) the prevalence of factor V Leiden, 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T and endothelial nitric oxide synthase (eNOS) 4ab gene variants. Ninety-nine subjects age and gender matched (18 to 45 y) from other departments of the Tiantan Hospital served as controls.
  
  
  RESULTS
  Homozygosity for the TT genotype of the MTHFR gene was 29 of 97 (29.9%) in patients and 34 of 99 (34.3%) in controls; this difference was not statistically significant (p>0.05, chi2). Variation of factor V Leiden was not detected both in patients and in controls of this cohort. Genotype eNOS 4bb was 90 of 97 (92.8%) in patients and 81 of 99 (81.8%) in controls; this difference was statistically significant (p<0.05, chi2 test).
  
  
  CONCLUSIONS
  The eNOS 4ab variant appears to be an important risk factor for ischemic stroke in young Chinese population.
authors.affiliation: Department of Experimental and Diagnosis Center, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100050, China. scn_2001@163.com
authors.forename: Congning
authors.initials: C
authors.lastname: Shi
authors.forename: Xixiong
authors.initials: X
authors.lastname: Kang
authors.forename: Yajie
authors.initials: Y
authors.lastname: Wang
authors.forename: Yali
authors.initials: Y
authors.lastname: Zhou
mesh_terms: D000293:Adolescent; D000328:Adult; D002681:China; D005165:Factor V / Q000235:genetics / Q000378:metabolism*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics / Q000378:metabolism*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D052250:Nitric Oxide Synthase Type III / Q000235:genetics / Q000378:metabolism*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012307:Risk Factors; D020521:Stroke / Q000235:genetics* / Q000378:metabolism*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D052250:Nitric Oxide Synthase Type III; D042965:Methylenetetrahydrofolate Reductase (NADPH2)