on November 4, 2004
Published online before print November 4, 2004, doi: 10.1161/01.STR.0000147966.81215.be
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Submitted on July 25, 2004
From the Department of Neurosurgery (T.Y., H.K.,H.A., H.O., T.H.), Tokyo Women’s Medical University, Tokyo, Japan; the Department of Neurosurgery (J.C.L., T.-K.Y., C.-J.K.), Chonbuk National University, Chonju, Korea; and the Division of Genetic Diagnosis (T.N., I.I.), Institute of Medical Science, University of Tokyo, Tokyo, Japan. * To whom correspondence should be addressed. E-mail: hkasuya{at}nij.twmu.ac.jp.
Background and Purpose--A possible association has been proposed for the formation of intracranial aneurysm (IA) and deficiency alleles (S and Z) of the 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.
Accepted on August 18, 2004
Absence of Alpha-1 Antitrypsin Deficiency Alleles (S and Z) in Japanese and Korean Patients With Aneurysmal Subarachnoid Hemorrhage
Taku Yoneyama MD;
1-antitrypsin (AAT) gene. We extensively screened this gene in Japanese and Korean patients with aneurysmal subarachnoid hemorrhage.
Key words: aneurysm • genetics • subarachnoid hemorrhage