Item type |
文献 / Documents(1) |
公開日 |
2018-11-12 |
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アクセス権 |
open access |
資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
出版社版DOI |
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識別子タイプ |
DOI |
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関連識別子 |
https://doi.org/10.1371/journal.pone.0175649 |
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言語 |
ja |
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関連名称 |
10.1371/journal.pone.0175649 |
出版タイプ |
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出版タイプ |
VoR |
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出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
タイトル |
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タイトル |
Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease |
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言語 |
en |
著者 |
モリモト, タカアキ
ミネハル, ヨウヘイ
オノ, コウ
ナカトチ, マサヒロ
イチハラ, サホコ
カバタ, リサコ
高木, 康志
Cao, Yang
Zhao, Lanying
コバヤシ, ハタス
ハラダ, コウジ
タケナカ, カツノブ
フナキ, タケシ
ヨコタ, ミツヒロ
マツバラ, タツアキ
ヤマモト, ケン
イザワ, ヒデオ
キムラ, タケシ
ミヤモト, ススム
コイズミ, アキオ
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抄録 |
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内容記述タイプ |
Abstract |
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内容記述 |
Background The genetic architecture of coronary artery disease has not been fully elucidated, especially in Asian countries. Moyamoya disease is a progressive cerebrovascular disease that is reported to be complicated by coronary artery disease. Because most Japanese patients with moyamoya disease carry the p.R4810K variant of the ring finger 213 gene (RNF213), this may also be a risk factor for coronary artery disease; however, this possibility has never been tested.
Methods and results We genotyped the RNF213 p.R4810K variant in 956 coronary artery disease patients and 716 controls and tested the association between p.R4810K and coronary artery disease. We also validated the association in an independent population of 311 coronary artery disease patients and 494 controls. In the replication study, the p.R4810K genotypes were imputed from genome-wide genotyping data based on the 1000 Genomes Project. We used multivariate logistic regression analyses to adjust for well-known risk factors such as dyslipidemia and smoking habits. In the primary study population, the frequency of the minor variant allele was significantly higher in patients with coronary artery disease than in controls (2.04% vs. 0.98%), with an odds ratio of 2.11 (p = 0.017). Under a dominant model, after adjustment for risk factors, the association remained significant, with an odds ratio of 2.90 (95% confidence interval: 1.37-6.61; p = 0.005). In the replication study, the association was significant after adjustment for age and sex (odds ratio = 4.99; 95% confidence interval: 1.16-21.53; p = 0.031), although it did not reach statistical significance when further adjusted for risk factors (odds ratio = 3.82; 95% confidence interval: 0.87-16.77; p = 0.076).
Conclusions The RNF213 p.R4810K variant appears to be significantly associated with coronary artery disease in the Japanese population. |
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言語 |
en |
書誌情報 |
en : PLOS ONE
巻 12,
号 4,
p. e0175649,
発行日 2017-04-17
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収録物ID |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
19326203 |
出版者 |
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出版者 |
PLOS |
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言語 |
en |
権利情報 |
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言語 |
en |
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権利情報 |
Copyright: © 2017 Morimoto et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
EID |
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識別子 |
341935 |
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識別子タイプ |
URI |
言語 |
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言語 |
eng |