Alpha-1 antichymotrypsin gene signal peptide A/T polymorphism and primary intracerebral hemorrhage

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. Copyright (c) 2008 S. Karger AG, Basel.