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p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males
http://hdl.handle.net/10091/17575
http://hdl.handle.net/10091/175751e219bf7-89b3-4ae5-8b81-27459e7fbffc
| 名前 / ファイル | ライセンス | アクション |
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pE66Q_Mutation_GLA_ Gene_Associated_High_Risk.pdf (1.3 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||||||||||||||||||||||||
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| 公開日 | 2014-06-09 | |||||||||||||||||||||||||||
| タイトル | ||||||||||||||||||||||||||||
| タイトル | p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males | |||||||||||||||||||||||||||
| 言語 | ||||||||||||||||||||||||||||
| 言語 | eng | |||||||||||||||||||||||||||
| DOI | ||||||||||||||||||||||||||||
| 関連識別子 | https://doi.org/10.1111/ene.12214 | |||||||||||||||||||||||||||
| 関連名称 | 10.1111/ene.12214 | |||||||||||||||||||||||||||
| キーワード | ||||||||||||||||||||||||||||
| 主題 | cerebral hemorrhage, cerebral infarction, cerebral small-vessel occlusion, Fabry disease, GLA, lacunar infarction, risk factors, alpha-galactosidase A | |||||||||||||||||||||||||||
| 資源タイプ | ||||||||||||||||||||||||||||
| 資源 | http://purl.org/coar/resource_type/c_6501 | |||||||||||||||||||||||||||
| タイプ | journal article | |||||||||||||||||||||||||||
| 著者 |
Nakamura, K
× Nakamura, K
× Sekijima, Y
× Nakamura, K
× Hattori, K
× Nagamatsu, K
× Shimizu, Y
× Yazaki, M
× Sakurai, A
× Endo, F
× Fukushima, Y
× Ikeda, S. -I
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| 信州大学研究者総覧へのリンク | ||||||||||||||||||||||||||||
| 氏名 | Nakamura, K | |||||||||||||||||||||||||||
| URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.jFSVbVym.html | |||||||||||||||||||||||||||
| 信州大学研究者総覧へのリンク | ||||||||||||||||||||||||||||
| 氏名 | Sekijima, Y | |||||||||||||||||||||||||||
| URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.WhLNuakh.html | |||||||||||||||||||||||||||
| 信州大学研究者総覧へのリンク | ||||||||||||||||||||||||||||
| 氏名 | Yazaki, M | |||||||||||||||||||||||||||
| URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.gpTauakh.html | |||||||||||||||||||||||||||
| 信州大学研究者総覧へのリンク | ||||||||||||||||||||||||||||
| 氏名 | Fukushima, Y | |||||||||||||||||||||||||||
| URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.OUnVuUkh.html | |||||||||||||||||||||||||||
| 出版者 | ||||||||||||||||||||||||||||
| 出版者 | WILEY-BLACKWELL | |||||||||||||||||||||||||||
| 引用 | ||||||||||||||||||||||||||||
| 内容記述 | EUROPEAN JOURNAL OF NEUROLOGY. 21(1):49-56 (2014) | |||||||||||||||||||||||||||
| 書誌情報 |
EUROPEAN JOURNAL OF NEUROLOGY 巻 21, 号 1, p. 49-56, 発行日 2014-01 |
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| 抄録 | ||||||||||||||||||||||||||||
| 内容記述 | Background and purposeGLA is the causative gene of Fabry disease, an X-linked lysosomal storage disorder resulting from -galactosidase A (-GAL) deficiency. Stroke is an important manifestation of Fabry disease, and recent epidemiological studies have indicated that up to 4.9% of young male cryptogenic stroke patients have GLA mutations. To determine the importance of GLA mutations in the general stroke population, the frequency of GLA mutations in Japanese male ischaemic stroke (IS) patients with various risk factors and ages was measured. MethodsA total of 475 male IS patients (mean age 69.712.5years), were enrolled in this study. A blood sample was obtained to produce blood spots for measurement of -GAL activity. Blood samples with decreased enzymatic activity were reassayed and the entire GLA gene was analyzed by direct DNA sequencing if -Gal A activity was consistently low. Results-Gal A activity was decreased in 10 men, five of whom (1.1%) had the GLA gene mutation, p.E66Q. All IS patients with p.E66Q mutation had substantial residual -Gal A activity, in contrast to patients with classic-type Fabry disease. Clinically, all patients with p.E66Q mutation were >50years old and had multiple small-vessel occlusions (lacunar infarctions). Statistical analysis using Fisher's exact test showed the allele frequency of GLA p.E66Q in patients with small-vessel occlusion to be significantly higher than that in the general Japanese population [odds ratio (OR)=3.34, P=0.025). ConclusionsGLA p.E66Q mutation is a genetic risk factor for cerebral small-vessel occlusion in elderly Japanese males. | |||||||||||||||||||||||||||
| 資源タイプ（コンテンツの種類） | ||||||||||||||||||||||||||||
| ISSN | ||||||||||||||||||||||||||||
| 収録物識別子タイプ | PISSN | |||||||||||||||||||||||||||
| 収録物識別子 | 1351-5101 | |||||||||||||||||||||||||||
| 書誌レコードID | ||||||||||||||||||||||||||||
| 収録物識別子タイプ | NCID | |||||||||||||||||||||||||||
| 収録物識別子 | AA11015934 | |||||||||||||||||||||||||||
| PubMed | ||||||||||||||||||||||||||||
| 識別子タイプ | PMID | |||||||||||||||||||||||||||
| 関連識別子 | https://pubmed.ncbi.nlm.nih.gov/23724928 | |||||||||||||||||||||||||||
| 関連名称 | 23724928 | |||||||||||||||||||||||||||
| 権利 | ||||||||||||||||||||||||||||
| 権利情報 | The definitive version is available at wileyonlinelibrary.com | |||||||||||||||||||||||||||
| 出版タイプ | ||||||||||||||||||||||||||||
| 出版タイプ | AM | |||||||||||||||||||||||||||
| 出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||||||||||||||||||||||||
| WoS | ||||||||||||||||||||||||||||
| URL | http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000327943000013 | |||||||||||||||||||||||||||
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Nakamura, K, Sekijima, Y, Nakamura, K, Hattori, K, Nagamatsu, K, Shimizu, Y, Yazaki, M, Sakurai, A, Endo, F, Fukushima, Y, Ikeda, S. -I, 2014, p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males: WILEY-BLACKWELL, 49–56 p.
