title: The alanine/threonine polymorphism of the alpha-1-antichymotrypsin (SERPINA3) gene and ruptured intracranial aneurysms in the Japanese population.
abstract: BACKGROUND
  Serine protease inhibitor member 3 of clade A (SERPINA3), also known as alpha-1-antichymotrypsin, inhibits the activity of cathepsin G. The release of neutrophil cathepsin G (proteolytic enzyme) can destroy the vascular matrix through degradation, platelet aggregation and coagulation disorders. In a previous report there was evidence that an alanine/threonine polymorphism was associated with the risk factor for aneurysmal subarachnoid hemorrhage (SAH) in a Polish population. We performed this study to determine whether this A15T polymorphism shows the same association in a Japanese population.
  
  
  METHODS
  A total of 437 patients with an aneurysmal SAH and 405 control cases of Japanese origin were genotyped for the A15T polymorphism and 2 further intronic single nucleotide polymorphisms by using polymerase chain reaction and direct sequencing.
  
  
  RESULTS
  In the patients with intracranial aneurysms the SERPINA3 A15T allele and genotype distribution did not differ significantly from the controls.
  
  
  CONCLUSIONS
  In the Japanese population the A15T polymorphism of the SERPINA3 gene is not associated with aneurysmal SAH.
authors.affiliation: Division of Genetic Diagnosis, Institute of Medical Science, University of Tokyo, Tokyo, Japan. boris@krischek.de
authors.forename: Boris
authors.initials: B
authors.lastname: Krischek
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Akagawa
authors.forename: Atsushi
authors.initials: A
authors.lastname: Tajima
authors.forename: Akira
authors.initials: A
authors.lastname: Narita
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Kasuya
authors.forename: Tomokatsu
authors.initials: T
authors.lastname: Hori
authors.forename: Ituro
authors.initials: I
authors.lastname: Inoue
mesh_terms: D000409:Alanine; D017542:Aneurysm, Ruptured / Q000150:complications / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D002532:Intracranial Aneurysm / Q000150:complications / Q000235:genetics*; D007564:Japan; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D015843:Serpins / Q000235:genetics*; D013345:Subarachnoid Hemorrhage / Q000209:etiology / Q000235:genetics*; D013912:Threonine
chemical_list: C516148:SERPINA3 protein, human; D015843:Serpins; D013912:Threonine; D000409:Alanine