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全基因组关联研究心房颤动：过去、现在和未来。

Genome-wide association studies of atrial fibrillation: past, present, and future.

机构信息

Department of Medicine I, University Hospital Munich, Campus Grosshadern, Marchioninistrasse 15, 81377 Munich, Germany.

出版信息

Cardiovasc Res. 2011 Mar 1;89(4):701-9. doi: 10.1093/cvr/cvr001. Epub 2011 Jan 18.

DOI:10.1093/cvr/cvr001
PMID:21245058
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3039249/
Abstract

Genome-wide association studies (GWAS) for atrial fibrillation (AF) have identified three distinct genetic loci on chromosomes 1q21, 4q25, and 16q22 that are associated with the arrhythmia. Susceptibility loci also have been identified by GWAS for PR interval duration, a quantitative phenotype related to AF. In this review article, we have sought to summarize the latest findings for population-based genetic studies of AF, to highlight ongoing functional studies, and to explore the future directions of genetic research on AF.

摘要

全基因组关联研究（GWAS）已经确定了三个不同的与心律失常相关的遗传位点，位于染色体 1q21、4q25 和 16q22。GWAS 还确定了 PR 间期持续时间的易感性位点，这是一种与房颤相关的定量表型。在这篇综述文章中，我们试图总结房颤的基于人群的遗传研究的最新发现，强调正在进行的功能研究，并探讨房颤遗传研究的未来方向。

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Genome-wide association studies of atrial fibrillation: past, present, and future.全基因组关联研究心房颤动：过去、现在和未来。
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2
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本文引用的文献

1
Hundreds of variants clustered in genomic loci and biological pathways affect human height.数以百计的变异体聚集在基因组位置和生物途径中，影响人类身高。
Nature. 2010 Oct 14;467(7317):832-8. doi: 10.1038/nature09410. Epub 2010 Sep 29.
2
Independent susceptibility markers for atrial fibrillation on chromosome 4q25.染色体 4q25 上与心房颤动相关的独立易感性标志物。
Circulation. 2010 Sep 7;122(10):976-84. doi: 10.1161/CIRCULATIONAHA.109.886440. Epub 2010 Aug 23.
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Genomewide association studies and assessment of the risk of disease.全基因组关联研究与疾病风险评估
N Engl J Med. 2010 Jul 8;363(2):166-76. doi: 10.1056/NEJMra0905980.
4
Hints of hidden heritability in GWAS.GWAS 中隐藏遗传力的迹象。
Nat Genet. 2010 Jul;42(7):558-60. doi: 10.1038/ng0710-558.
5
Common SNPs explain a large proportion of the heritability for human height.常见的单核苷酸多态性解释了人类身高遗传的很大一部分。
Nat Genet. 2010 Jul;42(7):565-9. doi: 10.1038/ng.608. Epub 2010 Jun 20.
6
Inhibition of small-conductance Ca2+-activated K+ channels terminates and protects against atrial fibrillation.小电导钙激活钾通道的抑制终止并防止心房颤动。
Circ Arrhythm Electrophysiol. 2010 Aug;3(4):380-90. doi: 10.1161/CIRCEP.110.957407. Epub 2010 Jun 19.
7
Genetics of atrial fibrillation: implications for future research directions and personalized medicine.心房颤动的遗传学：对未来研究方向和个性化医疗的启示
Circ Arrhythm Electrophysiol. 2010 Jun;3(3):291-9. doi: 10.1161/CIRCEP.110.942441.
8
Pitx2 prevents susceptibility to atrial arrhythmias by inhibiting left-sided pacemaker specification.Pitx2通过抑制左侧起搏器特化来预防心房心律失常易感性。
Proc Natl Acad Sci U S A. 2010 May 25;107(21):9753-8. doi: 10.1073/pnas.0912585107. Epub 2010 May 10.
9
Genome-wide association studies in cardiac electrophysiology: recent discoveries and implications for clinical practice.全基因组关联研究在心脏电生理学中的应用：最新发现及其对临床实践的影响。
Heart Rhythm. 2010 Aug;7(8):1141-8. doi: 10.1016/j.hrthm.2010.04.021. Epub 2010 Apr 25.
10
Common variants in KCNN3 are associated with lone atrial fibrillation.常见的 KCNN3 变体与孤立性心房颤动有关。
Nat Genet. 2010 Mar;42(3):240-4. doi: 10.1038/ng.537. Epub 2010 Feb 21.