alpha-1-Antichymotrypsin gene A1252G variant (ACT Isehara-1) is associatedwith a lacunar type of ischemic cerebrovascular disease

alpha -1-Antichymotrypsin (ACT) is a plasma protease inhibitor belonging to the serpine superfamily; it has many functions, and thus qualitative chang e in ACT is likely to result in specific diseases. We previously reported a variant AACT (ACT Isehara-1, Met389Val, A1252G) in patients with ischemic cerebrovascular disease (CVD). The present study was designed to examine th e association of the variant with ischemic CVD, in 87 patients and 397 age- matched controls. We found that the frequency of the A1252G variant (ACT Is ehara-1) was higher in the group with ischemic CVD than in the control grou p (P = 0.0397) which appeared to be independent of known risk factors. We s ubdivided the CVD group into lacunar and atherothrombotic subgroups. Furthe r analysis by subtype of ischemic CVD showed an association of ACT Isehara- 1 with lacunar infarction (P = 0.0036). These results suggest that ACT Iseh ara-1 is a new genetic risk factor for ischemic CVD, especially lacunar-typ e infarction, in Japan.