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Title: Significant association of RNF213 p.R4810K, a moyamoya susceptibility variant, with coronary artery disease
Authors: Morimoto, Takaaki
Mineharu, Yohei  kyouindb  KAKEN_id
Ono, Koh
Nakatochi, Masahiro
Ichihara, Sahoko
Kabata, Risako
Takagi, Yasushi
Cao, Yang
Zhao, Lanying
Kobayashi, Hatasu
Harada, Kouji H.
Takenaka, Katsunobu
Funaki, Takeshi  kyouindb  KAKEN_id
Yokota, Mitsuhiro
Matsubara, Tatsuaki
Yamamoto, Ken
Izawa, Hideo
Kimura, Takeshi  kyouindb  KAKEN_id
Miyamoto, Susumu
Koizumi, Akio  kyouindb  KAKEN_id
Author's alias: 峰晴, 陽平
尾野, 亘
加畑, 理咲子
高木, 康志
舟木, 健史
木村, 剛
宮本, 享
小泉, 昭夫
Issue Date: 17-Apr-2017
Publisher: Public Library of Science (PLoS)
Journal title: PLOS ONE
Volume: 12
Issue: 4
Thesis number: e0175649
Abstract: [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] he RNF213 p.R4810K variant appears to be significantly associated with coronary artery disease in the Japanese population.
Rights: © 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.
DOI(Published Version): 10.1371/journal.pone.0175649
PubMed ID: 28414759
Appears in Collections:Journal Articles

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