AKAGAWA HIROYUKI    Department   Research Institutes and Facilities, Research Institutes and Facilities    Position   Associate Professor
Article types	Original article
Language	English
Peer review	Peer reviewed
Title	Absence of alpha-1 antitrypsin deficiency alleles (S and Z) in Japanese and Korean patients with aneurysmal subarachnoid hemorrhage.
Journal	Formal name：Stroke Abbreviation：Stroke ISSN code：1524-4628(Electronic)0039-2499(Linking)
Domestic / Foregin	Foregin
Volume, Issue, Page	35(12),pp.e376-8
Author and coauthor	Yoneyama Taku, Kasuya Hidetoshi, Akagawa Hiroyuki, Onda Hideaki, Nakajima Toshiaki, Hori Tomokatsu, Inoue Ituro, Lee Jung-Chung, ng Tae-Ki, Kim Chul-Jin
Publication date	2004/12
Summary	BACKGROUND AND PURPOSE:A possible association has been proposed for the formation of intracranial aneurysm (IA) and deficiency alleles (S and Z) of the alpha1-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 dCONCLUSIONS:eficiency may not be a common genetic risk factor for aneurysmal subarachnoid hemorrhage in Japanese and Koreans.
DOI	10.1161/01.STR.0000147966.81215.be
Document No.	15528457