title: The thrombomodulin gene mutation G(127)-->A (Ala25Thr) and cerebrovascular disease.
abstract: OBJECTIVE
  Thrombomodulin is an integral part of the protein C anticoagulation pathway, and polymorphisms of its gene have been implicated in thrombosis. The point mutation G(127)-->A has recently been found to be associated with myocardial infarction.
  
  
  METHODS
  We investigated this mutation in 465 patients with acute stroke and 353 control subjects. Genomic DNA containing the region of interest was amplified by PCR, and differing genotypes were identified by RFLP.
  
  
  RESULTS
  The A allele frequency was not statistically significantly different in the two groups, being 0.5% in the stroke group and 0.7% in the control group.
  
  
  CONCLUSIONS
  The point mutation G(127)-->A is an uncommon finding and, in this population, is unlikely to be a major risk factor for cerebrovascular disease.
authors.affiliation: Unit of Molecular Vascular Medicine, Research School of Medicine, General Infirmary, Leeds, UK. darren_warner@lineone-net
authors.forename: D
authors.initials: D
authors.lastname: Warner
authors.forename: A
authors.initials: A
authors.lastname: Catto
authors.forename: G
authors.initials: G
authors.lastname: Kunz
authors.forename: H
authors.initials: H
authors.lastname: Ireland
authors.forename: P J
authors.initials: PJ
authors.lastname: Grant
authors.forename: D A
authors.initials: DA
authors.lastname: Lane
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002561:Cerebrovascular Disorders / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D012307:Risk Factors; D018180:Thrombomodulin / Q000235:genetics*
chemical_list: D018180:Thrombomodulin