The alanine/threonine polymorphism of the alpha-1-antichymotrypsin (SERPINA3) gene and ruptured intracranial aneurysms in the Japanese population

Cerebrovasc Dis. 2007;23(1):46-9. doi: 10.1159/000095758. Epub 2006 Sep 12.

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.

Conclusion: In the Japanese population the A15T polymorphism of the SERPINA3 gene is not associated with aneurysmal SAH.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alanine
  • Aneurysm, Ruptured / complications
  • Aneurysm, Ruptured / genetics*
  • Asian Continental Ancestry Group / genetics*
  • Case-Control Studies
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Intracranial Aneurysm / complications
  • Intracranial Aneurysm / genetics*
  • Japan
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Risk Factors
  • Serpins / genetics*
  • Subarachnoid Hemorrhage / etiology
  • Subarachnoid Hemorrhage / genetics*
  • Threonine

Substances

  • SERPINA3 protein, human
  • Serpins
  • Threonine
  • Alanine