Alpha-1 antichymotrypsin gene signal peptide a/t polymorphism and primary intracerebral hemorrhage

Eur Neurol. 2008;59(6):307-14. doi: 10.1159/000121420. Epub 2008 Apr 11.

Abstract

Background/aims: Alpha-1 antichymotrypsin (ACT), a serine proteinase inhibitor, has been implicated in vascular pathology. The TT genotype of the ACT signal peptide A/T polymorphism has been reported to confer susceptibility to primary intracerebral hemorrhage (PICH). We conducted a prospective study to test possible association of ACT signal peptide A/T polymorphism with PICH in a Greek cohort with enough power (80%) to detect a twofold increase in the odds ratio.

Methods: We prospectively recruited 147 patients with PICH. ACT signal peptide A/T genotypes were determined in patients and 206 healthy, age- and sex-matched control subjects from the neurology outpatient clinic using the polymerase chain reaction restriction fragment length polymorphism method.

Results: Our study did not show an association between ACT signal peptide A/T polymorphism and PICH. We also failed to find any influence on age at onset, the location and volume of PICH as well as on clinical severity at admission or 6-month outcome.

Conclusion: Our data failed to confirm an association between ACT signal peptide A/T polymorphism and PICH. However, we cannot exclude the possibility that the TT genotype confers susceptibility at less than a twofold increase.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Case-Control Studies
  • Cerebral Hemorrhage / epidemiology
  • Cerebral Hemorrhage / genetics*
  • Comorbidity
  • Diabetes Mellitus / epidemiology
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Hypercholesterolemia / epidemiology
  • Hypertension / epidemiology
  • Male
  • Middle Aged
  • Myocardial Ischemia / epidemiology
  • Polymorphism, Genetic*
  • Smoking / epidemiology
  • Survival Analysis
  • alpha 1-Antichymotrypsin / genetics*

Substances

  • alpha 1-Antichymotrypsin