Abstract
We have already reported a variant αl-antichymotrypsin (ACT) (ACT Isehara-1, Met389Val, A1252G), which was frequently found in the patients with cerebrovascular disease (CVD). To clarify whether this mutant variant in a novel risk factor in CVD, we studied 87 patients with documented CVD (age 58±13 years) and 443 control subjects (age 54±9 years). CVD was diagnosed using by clinical manifestations and magnetic resonance imaging (MRI) for brain. To rule out the effects of specific extracranial and systemic factors were excluded. Genomic leucocyte DNA was used for DNA analyses including PCR-single strand conformation polymorphism (PCR-SSCP) and PCR-RFLP methods.
The frequency of ACT Isehara-1 (heterozygote) was significantly higher in the CVD subjects (12.6%) than in control subjects (5.6%, odds ratio = 2.42, 95% CI =1.14-5.12, p = 0.018). This result implies that ACT Isehara-1 is a CVD risk factor. Analysis by subtypes of CVD showed that 8 of 11 subjects with ACT Isehara-1 (72.7%) had lacunar stroke. This result was suggesting the association of ACT Isehara-1 with lacunar stroke. We concluded that ACT Isehara-1 is a possible genetic risk factor of CVD. Determination of A 1252 G genotype may be useful in assessment of CVD risk and prevention of a part of CVD.
