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Genetic Dissection of Intracranial Aneurysm Hideaki Onda 1 , Taku Yoneyama 2 , Hiroyuki Akagawa 2 , Hidetoshi Kasuya 3 1Division of Neurosurgery,Kofu Neurosurgical Hospital 2Department of Neurosurgery,Tokyo Women's Medical University 3Department of Neurosurgery,Medical Center East,Tokyo Women's Medical University Keyword: intracranial aneurysm , subarachnoid hemorrhage , genetics , linkage analysis , association study pp.1245-1260
Published Date 2008/11/1
DOI https://doi.org/10.11477/mf.1416100373
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Abstract

 Subarachnoid hemorrhage (SAH) due to rupture of an intracranial aneurysm (IA) is a devastating condition with high mortality and morbidity. Genetic as well as environment factors play important roles in the pathogenesis of SAH and IAs. We review the present knowledge on the genetic factors responsible for SAH or IAs.

 Linkage analysis and association study are used for genetic dissection. Genome-wide linkage analyses have specified several genetic loci for IAs and 6 loci (1p34-36,7q11,11q24-25,14q22-31,19q13,and Xp22) have been replicated in different populations. Numerous functional and/or positional candidate genes for IAs have been investigated by case-control association studies. The results of genetic association studies are modest because of small sample sizes. To date,no specific genes have been identified as responsible for IA development or rupture. Recent,large-scale genome-wide association (GWA) studies have revealed consistent and replicable genetic markers of several complex diseases such as coronary artery disease and type 2 diabetes. Although,thus far,no GWA studies have been performed for IAs,such a study may accomplish the breakthrough of genetic dissection of IAs. The identification of susceptible genes might lead to the understanding of the mechanism of IA formation or rupture and to novel therapeutic strategies.


Copyright © 2008, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1344-8129 印刷版ISSN 1881-6096 医学書院

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