Absence of Alpha-1 Antitrypsin Deficiency Alleles (S and Z) in Japanese and Korean Patients With Aneurysmal Subarachnoid Hemorrhage

Background and Purpose—A possible association has been proposed for the formation of intracranial aneurysm (IA) and deficiency alleles (S and Z )o f the1-antitrypsin (AAT) gene. We extensively screened this gene in Japanese and Korean patients with aneurysmal subarachnoid hemorrhage. Methods—Seven allelic variants, including S and Z alleles, were genotyped by direct sequencing of genomic DNA obtained from 195 and 189 ruptured IA patients and 195 and 94 controls in Japanese and Koreans, respectively. The haplotype in phase-unknown samples was constructed with the expectation–maximization method. Differences in allelic frequencies between patients and controls were evaluated by Fisher exact test. Results—No significant differences in allelic frequencies were observed at all 7 variants between ruptured IA patients and controls. We could not detect the S and Z alleles of the AAT gene in Japanese and Korean populations. Conclusions—AAT deficiency may not be a common genetic risk factor for aneurysmal subarachnoid hemorrhage in Japanese and Koreans. (Stroke. 2004;35:e376-e378.)