title: Absence of alpha-1 antitrypsin deficiency alleles (S and Z) in Japanese and Korean patients with aneurysmal subarachnoid hemorrhage.
abstract: OBJECTIVE
  A possible association has been proposed for the formation of intracranial aneurysm (IA) and deficiency alleles (S and Z) of the alpha1-antitrypsin (AAT) gene. We extensively screened this gene in Japanese and Korean patients with aneurysmal subarachnoid hemorrhage.
  
  
  METHODS
  Seven allelic variants, including S and Z alleles, were genotyped by direct sequencing of genomic DNA obtained from 195 and 189 ruptured IA patients and 195 and 94 controls in Japanese and Koreans, respectively. The haplotype in phase-unknown samples was constructed with the expectation-maximization method. Differences in allelic frequencies between patients and controls were evaluated by Fisher exact test.
  
  
  RESULTS
  No significant differences in allelic frequencies were observed at all 7 variants between ruptured IA patients and controls. We could not detect the S and Z alleles of the AAT gene in Japanese and Korean populations.
  
  
  CONCLUSIONS
  AAT deficiency may not be a common genetic risk factor for aneurysmal subarachnoid hemorrhage in Japanese and Koreans.
authors.affiliation: Department of Neurosurgery, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Taku
authors.initials: T
authors.lastname: Yoneyama
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Kasuya
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Akagawa
authors.forename: Hideaki
authors.initials: H
authors.lastname: Onda
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Nakajima
authors.forename: Tomokatsu
authors.initials: T
authors.lastname: Hori
authors.forename: Ituro
authors.initials: I
authors.lastname: Inoue
authors.forename: Jung-Chung
authors.initials: JC
authors.lastname: Lee
authors.forename: Tae-Ki
authors.initials: TK
authors.lastname: Yang
authors.forename: Chul-Jin
authors.initials: CJ
authors.lastname: Kim
mesh_terms: D044466:Asian People / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D013345:Subarachnoid Hemorrhage / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin