| Absence of alpha-1 antitrypsin deficiency alleles (S and Z) in Japanese and Korean patients with aneurysmal subarachnoid hemorrhage. | |
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MedLine Citation:
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PMID: 15528457 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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 deficiency may not be a common genetic risk factor for aneurysmal subarachnoid hemorrhage in Japanese and Koreans. |
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Authors:
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Taku Yoneyama; Hidetoshi Kasuya; Hiroyuki Akagawa; Hideaki Onda; Toshiaki Nakajima; Tomokatsu Hori; Ituro Inoue; Jung-Chung Lee; Tae-Ki Yang; Chul-Jin Kim |
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Publication Detail:
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Type: Journal Article Date: 2004-11-04 |
Journal Detail:
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Title: Stroke; a journal of cerebral circulation Volume: 35 ISSN: 1524-4628 ISO Abbreviation: Stroke Publication Date: 2004 Dec |
Date Detail:
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Created Date: 2004-11-26 Completed Date: 2005-06-24 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0235266 Medline TA: Stroke Country: United States |
Other Details:
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Languages: eng Pagination: e376-8 Citation Subset: IM |
Affiliation:
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Department of Neurosurgery, Tokyo Women's Medical University, Tokyo, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Asian Continental Ancestry Group
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genetics* Female Haplotypes Humans Male Middle Aged Polymorphism, Single Nucleotide Subarachnoid Hemorrhage / genetics* alpha 1-Antitrypsin / genetics* |
| Chemical | |
Reg. No./Substance:
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0/alpha 1-Antitrypsin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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