• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

KCNJ5基因的常见多态性与白种人中早发性孤立性心房颤动相关。 [校正后]

Common polymorphisms in KCNJ5 [corrected] are associated with early-onset lone atrial fibrillation in Caucasians.

作者信息

Jabbari Javad, Olesen Morten S, Holst Anders G, Nielsen Jonas B, Haunso Stig, Svendsen Jesper H

机构信息

Danish National Research Foundation Centre for Cardiac Arrhythmia (DARC), Heart Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

出版信息

Cardiology. 2011;118(2):116-20. doi: 10.1159/000323840. Epub 2011 May 9.

DOI:10.1159/000323840
PMID:21555883
Abstract

OBJECTIVES

The aim of this study was to screen lone atrial fibrillation (AF) patients for mutations in the genes KCNJ2, KCNJ3 and KCNJ5, all encoding potassium channels. Furthermore, we wanted to replicate the prior association of two single-nucleotide polymorphisms (SNPs) in KCNJ5, C171T (rs6590357) and G810T (rs7118824), with lone AF in Han Chinese.

METHODS

We sequenced the coding region and splice site of KCNJ2, KCNJ3 and KCNJ5 in 187 early-onset lone-AF patients screening for mutations and counting SNP frequencies for the two noted SNPs in KCNJ5.

RESULTS

No mutations were found in KCNJ2, KCNJ3 or KCNJ5. Both genotype distribution and allele frequencies of the SNPs rs6590357 and rs7118824 significantly differed between the AF and control group (p(genotype) = 0.0067, p(allele) = 0.0021 and p(genotype) = 0.014, p(allele) = 0.0101, respectively). On allele level, the OR for lone AF for rs6590357 was 1.77 (95% CI 1.16-2.73, p = 0.009) and for rs7118824 it was 1.71 (95% CI 1.13-2.57, p = 0.01) in a model adjusted for age and gender.

CONCLUSIONS

Our findings indicate that rs6590357 and rs7118824 in KCNJ5 are associated with early-onset lone AF in Caucasians. No mutations were found in the exon or splice site of KCNJ2, KCNJ3 or KCNJ5.

摘要

目的

本研究旨在筛查孤立性心房颤动(AF)患者中KCNJ2、KCNJ3和KCNJ5基因的突变,这三个基因均编码钾通道。此外,我们想要在汉族人群中复现KCNJ5基因中两个单核苷酸多态性(SNP),即C171T(rs6590357)和G810T(rs7118824)与孤立性AF的先前关联。

方法

我们对187例早发性孤立性AF患者的KCNJ2、KCNJ3和KCNJ5基因的编码区和剪接位点进行测序,以筛查突变,并计算KCNJ5基因中上述两个SNP的SNP频率。

结果

在KCNJ2、KCNJ3或KCNJ5基因中未发现突变。AF组和对照组中SNP rs6590357和rs7118824的基因型分布和等位基因频率均有显著差异(p(基因型)=0.0067,p(等位基因)=0.0021;以及p(基因型)=0.014,p(等位基因)=0.0101)。在年龄和性别校正模型中,rs6590357的孤立性AF等位基因水平OR值为1.77(95%CI 1.16 - 2.73,p = 0.009),rs7118824的OR值为1.71(95%CI 1.13 - 2.57,p = 0.01)。

结论

我们的研究结果表明,KCNJ5基因中的rs6590357和rs7118824与白种人的早发性孤立性AF相关。在KCNJ2、KCNJ3或KCNJ5基因的外显子或剪接位点未发现突变。

相似文献

1
Common polymorphisms in KCNJ5 [corrected] are associated with early-onset lone atrial fibrillation in Caucasians.KCNJ5基因的常见多态性与白种人中早发性孤立性心房颤动相关。 [校正后]
Cardiology. 2011;118(2):116-20. doi: 10.1159/000323840. Epub 2011 May 9.
2
The single nucleotide polymorphisms of Kir3.4 gene and their correlation with lone paroxysmal atrial fibrillation in Chinese Han population.中国汉族人群中Kir3.4基因的单核苷酸多态性及其与孤立性阵发性心房颤动的相关性
Heart Lung Circ. 2009 Aug;18(4):257-61. doi: 10.1016/j.hlc.2008.12.002. Epub 2009 Feb 8.
3
Screening of KCNN3 in patients with early-onset lone atrial fibrillation.早期起病的孤立性心房颤动患者中 KCNN3 的筛查。
Europace. 2011 Jul;13(7):963-7. doi: 10.1093/europace/eur007. Epub 2011 Mar 11.
4
Mutant KCNJ3 and KCNJ5 Potassium Channels as Novel Molecular Targets in Bradyarrhythmias and Atrial Fibrillation.突变型 KCNJ3 和 KCNJ5 钾通道作为缓慢性心律失常和心房颤动的新分子靶点。
Circulation. 2019 Apr 30;139(18):2157-2169. doi: 10.1161/CIRCULATIONAHA.118.036761.
5
Genetic variation in the inwardly rectifying K channel subunits KCNJ3 (GIRK1) and KCNJ5 (GIRK4) in patients with sinus node dysfunction.窦房结功能障碍患者内向整流钾通道亚基KCNJ3(GIRK1)和KCNJ5(GIRK4)的基因变异
Cardiology. 2010;115(3):176-81. doi: 10.1159/000279319. Epub 2010 Jan 29.
6
Association between SNP rs13376333 and rs1131820 in the KCNN3 gene and atrial fibrillation in the Chinese Han population.KCNN3 基因 SNP rs13376333 和 rs1131820 与汉族人群心房颤动的关联。
Clin Chem Lab Med. 2014 Dec;52(12):1867-73. doi: 10.1515/cclm-2014-0491.
7
The research of ion channel-related gene polymorphisms with atrial fibrillation in the Chinese Han population.离子通道相关基因多态性与中国汉族人群心房颤动的研究。
Mol Genet Genomic Med. 2019 Aug;7(8):e835. doi: 10.1002/mgg3.835. Epub 2019 Jul 4.
8
Genetic variations in the KCNJ5 gene in primary aldosteronism patients from Xinjiang, China.中国新疆原发性醛固酮增多症患者 KCNJ5 基因的遗传变异。
PLoS One. 2013;8(1):e54051. doi: 10.1371/journal.pone.0054051. Epub 2013 Jan 31.
9
Single nucleotide polymorphisms in proximity to K-channel genes are associated with decreased longitudinal QTc variance.钾通道基因附近的单核苷酸多态性与QTc纵向方差降低有关。
Ann Noninvasive Electrocardiol. 2014 Jan;19(1):63-9. doi: 10.1111/anec.12088. Epub 2013 Sep 9.
10
Genetic modifier of the QTc interval associated with early-onset atrial fibrillation.与早发性心房颤动相关的 QTc 间期的遗传修饰物。
Can J Cardiol. 2013 Oct;29(10):1234-40. doi: 10.1016/j.cjca.2013.06.009.

引用本文的文献

1
Relevance of in Pathologies of Heart Disease.在心脏病病理学中的相关性。
Int J Mol Sci. 2023 Jun 29;24(13):10849. doi: 10.3390/ijms241310849.
2
The Relevance of GIRK Channels in Heart Function.GIRK通道在心脏功能中的相关性。
Membranes (Basel). 2022 Nov 9;12(11):1119. doi: 10.3390/membranes12111119.
3
The Effects of Single Nucleotide Polymorphisms in Korean Patients with Early-onset Atrial Fibrillation after Catheter Ablation.韩国早发性心房颤动经导管消融术后患者单核苷酸多态性的影响。
J Korean Med Sci. 2020 Dec 21;35(49):e411. doi: 10.3346/jkms.2020.35.e411.
4
Atrial Fibrillation in Long QT Syndrome by Genotype.长 QT 综合征的基因型与心房颤动
Circ Arrhythm Electrophysiol. 2019 Oct;12(10):e007213. doi: 10.1161/CIRCEP.119.007213. Epub 2019 Oct 15.
5
The research of ion channel-related gene polymorphisms with atrial fibrillation in the Chinese Han population.离子通道相关基因多态性与中国汉族人群心房颤动的研究。
Mol Genet Genomic Med. 2019 Aug;7(8):e835. doi: 10.1002/mgg3.835. Epub 2019 Jul 4.
6
The Values of Coronary Circulating miRNAs in Patients with Atrial Fibrillation.心房颤动患者冠状动脉循环微小RNA的价值
PLoS One. 2016 Nov 17;11(11):e0166235. doi: 10.1371/journal.pone.0166235. eCollection 2016.
7
Genomics of Atrial Fibrillation.心房颤动的基因组学
Curr Cardiol Rep. 2016 Jun;18(6):55. doi: 10.1007/s11886-016-0735-8.
8
Cardiac ion channels.心脏离子通道
Channels (Austin). 2015;9(6):352-9. doi: 10.1080/19336950.2015.1076597. Epub 2015 Aug 20.
9
Common and rare variants in SCN10A modulate the risk of atrial fibrillation.SCN10A基因中的常见和罕见变异会调节房颤风险。
Circ Cardiovasc Genet. 2015 Feb;8(1):64-73. doi: 10.1161/HCG.0000000000000022.
10
Emerging directions in the genetics of atrial fibrillation.心房颤动遗传学的新兴方向。
Circ Res. 2014 Apr 25;114(9):1469-82. doi: 10.1161/CIRCRESAHA.114.302225.