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本文引用的文献

1
Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation.由于KCNA5功能丧失突变导致的Kv1.5通道病会引发人类房颤。
Hum Mol Genet. 2006 Jul 15;15(14):2185-91. doi: 10.1093/hmg/ddl143. Epub 2006 Jun 13.
2
Mechanisms of disease: Genetic mechanisms of atrial fibrillation.疾病机制:心房颤动的遗传机制
Nat Clin Pract Cardiovasc Med. 2006 May;3(5):276-82. doi: 10.1038/ncpcardio0509.
3
Role of genetic analyses in cardiology: part II: heritability estimation for gene searching in multifactorial diseases.
Circulation. 2006 Feb 28;113(8):1136-9. doi: 10.1161/CIRCULATIONAHA.105.563197.
4
Electrophysiological characterization of three non-synonymous single nucleotide polymorphisms (R87Q, A251T, and P307S) found in hKv1.5.
Pflugers Arch. 2006 Jun;452(3):316-23. doi: 10.1007/s00424-005-0031-8. Epub 2006 Jan 13.
5
De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.导致子宫内房颤和短QT综合征的新发KCNQ1突变。
Cardiovasc Res. 2005 Dec 1;68(3):433-40. doi: 10.1016/j.cardiores.2005.06.023. Epub 2005 Aug 18.
6
A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation.一种Kir2.1功能获得性突变是家族性心房颤动的基础。
Biochem Biophys Res Commun. 2005 Jul 15;332(4):1012-9. doi: 10.1016/j.bbrc.2005.05.054.
7
Polymorphism screening in the cardiac K+ channel gene KCNA5.心脏钾通道基因KCNA5的多态性筛查
Clin Pharmacol Ther. 2005 Mar;77(3):138-44. doi: 10.1016/j.clpt.2004.10.008.
8
Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation.家族性心房颤动患者中KCNE2功能获得性突变的鉴定。
Am J Hum Genet. 2004 Nov;75(5):899-905. doi: 10.1086/425342. Epub 2004 Sep 13.
9
Association of human connexin40 gene polymorphisms with atrial vulnerability as a risk factor for idiopathic atrial fibrillation.人类连接蛋白40基因多态性与心房易损性的关联作为特发性心房颤动的一个危险因素
Circ Res. 2004 Aug 20;95(4):e29-33. doi: 10.1161/01.RES.0000141134.64811.0a. Epub 2004 Aug 5.
10
Association of anti-heat shock protein 65 antibodies with development of postoperative atrial fibrillation.抗热休克蛋白65抗体与术后心房颤动发生的关联。
Circulation. 2004 Oct 26;110(17):2588-90. doi: 10.1161/01.CIR.0000136825.96029.A5. Epub 2004 Jul 12.

一项初步研究,旨在评估冠状动脉搭桥手术后患者中hKv1.5基因多态性与心房颤动之间关系的可行性。

A pilot study to estimate the feasibility of assessing the relationships between polymorphisms in hKv1.5 and atrial fibrillation in patients following coronary artery bypass graft surgery.

作者信息

Plante Isabelle, Fournier Dominique, Mathieu Patrick, Daleau Pascal

机构信息

Quebec Heart Institute, Quebec, Quebec.

出版信息

Can J Cardiol. 2008 Jan;24(1):41-4. doi: 10.1016/s0828-282x(08)70546-4.

DOI:10.1016/s0828-282x(08)70546-4
PMID:18209767
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2631247/
Abstract

BACKGROUND

Postoperative atrial fibrillation (AF) is a frequent complication following cardiac surgery. Risk factors leading to the development of postoperative AF are not well known and may be influenced by mutations of specific channels involved in atrial repolarization. Recently, the authors have identified three single nucleotide polymorphisms (SNPs) (R87Q, A251T and P307S) in the voltage-gated potassium channel hKv1.5 in a French-Canadian population. Two of these, R87Q and P307S, modified the gating process and the expression level of the hKv1.5 channel.

OBJECTIVES

Considering that these SNPs may accelerate atrial repolarization, it was hypothesized that they may predispose patients to postoperative AF.

METHODS

The authors tested the presence of SNPs in the hKv1.5 channel among 185 patients undergoing coronary artery bypass graft surgery.

RESULTS

In the postoperative period, 96 patients (52%) developed a new onset of AF. A higher prevalence of SNPs was found among patients who developed postoperative AF than in the population without this postoperative arrhythmia (6.25% versus 3.37%; P=0.42). Respective allelic frequencies for R87Q and P307S were 0.52% and 1.56% in the postoperative AF group versus 0% and 0.56% in the non-AF group. Families of the carrier patients were also screened, and several members were found who carried the SNPs but did not have AF. The A251T SNP is not likely to be responsible for AF because it does not modify hKv1.5 channel functions.

CONCLUSIONS

A genetic background that may be involved in the occurrence of postoperative AF was identified. Therefore, R87Q and P307S polymorphisms in hKv1.5, possibly in combination with other risk factors, may influence the development of postoperative AF.

摘要

背景

术后房颤是心脏手术后常见的并发症。导致术后房颤发生的危险因素尚不明确,可能受参与心房复极的特定通道突变影响。最近,作者在法裔加拿大人群中鉴定出电压门控钾通道hKv1.5中的三个单核苷酸多态性(SNP)(R87Q、A251T和P307S)。其中两个,R87Q和P307S,改变了hKv1.5通道的门控过程和表达水平。

目的

鉴于这些SNP可能加速心房复极,推测它们可能使患者易患术后房颤。

方法

作者检测了185例接受冠状动脉搭桥手术患者的hKv1.5通道中SNP的存在情况。

结果

术后,96例患者(52%)出现新发房颤。发生术后房颤的患者中SNP的患病率高于无这种术后心律失常的人群(6.25%对3.37%;P = 0.42)。术后房颤组中R87Q和P307S的等位基因频率分别为0.52%和1.56%,而非房颤组为0%和0.56%。还对携带SNP患者的家族进行了筛查,发现有几个成员携带SNP但未患房颤。A251T SNP不太可能导致房颤,因为它不改变hKv1.5通道功能。

结论

确定了一个可能与术后房颤发生有关的遗传背景。因此,hKv1.5中的R87Q和P307S多态性,可能与其他危险因素共同作用,可能影响术后房颤的发生。