在1月在线出版的《自然―遗传学》期刊上，研究人员在3篇独立的论文中报告，他们鉴别出影响心率和其它心电图测量的遗传因子，新成果从新视角理解了影响心脏心电活动的普通遗传因子。
心脏传导是通过电脉冲速率表示的。心电图则是临床中评估心传导系统功能的常用方法。心率以每分钟的脉冲次数来表示，其他的测量包括心电图在心脏循环中特别界定的时间。在正常的心跳中，电子信号最初从右心房扩散到左心房，并通过心电图中的P波来表示。随后，电信号导致心室收缩，反映为QRS间期。
HilmaHolm和同事对大约2万名欧洲裔人进行了分析，发现基因MYH6上的变异与心率有关；他们同时还发现，基因TBX5和SCN10A上的变异均与RP间期和QRS间期有关。JohnChambers和同事对6543位亚洲印度人进行了分析，发现同样的变异出现在基因SCN10A上，而且也与亚洲印度人的PR间期有关；这个研究小组在6243位亚洲印度人和5370位欧洲裔人身上进行了重复测试，确认SCN10A上的变异与心脏传导的延长有关。最近，ArnePfeufer和同事报告说，他们对28517名欧洲人的基因分析，鉴别出与RP间期有关的9个基因位点，包括基因TBX5和SCN10A。
推荐原始出处：
Nature Genetics 10 January 2010 | doi:10.1038/ng.511
Several common variants modulate heart rate, PR interval and QRS duration
Hilma Holm1,11, Daniel F Gudbjartsson1,11, David O Arnar2,3, Gudmar Thorleifsson1, Gudmundur Thorgeirsson2,3, Hrafnhildur Stefansdottir2, Sigurjon A Gudjonsson1, Aslaug Jonasdottir1, Ellisiv B Mathiesen4,5, Inger Nj?lstad6, Audhild Nyrnes6,7, Tom Wilsgaard6, Erin M Hald8, Kristian Hveem9, Camilla Stoltenberg10, Maja-Lisa L?chen6,8, Augustine Kong1, Unnur Thorsteinsdottir1,3 " Kari Stefansson1,3
Abstract
Electrocardiographic measures are indicative of the function of the cardiac conduction system. To search for sequence variants that modulate heart rate, PR interval and QRS duration in individuals of European descent, we performed a genome-wide association study in ~10,000 individuals and followed up the top signals in an additional ~10,000 individuals. We identified several genome-wide significant associations (with P & 1.6 × 10?7). We identified one locus for heart rate (MYH6), four for PR interval (TBX5, SCN10A, CAV1 and ARHGAP24) and four for QRS duration (TBX5, SCN10A, 6p21 and 10q21). We tested for association between these loci and subjects with selected arrhythmias in Icelandic and Norwegian case-control sample sets. We observed correlations between TBX5 and CAV1 and atrial fibrillation (P = 4.0 × 10?5 and P = 0.00032, respectively), between TBX5 and advanced atrioventricular block (P = 0.0067), and between SCN10A and pacemaker implantation (P = 0.0029). We also replicated previously described associations with the QT interval.
1 deCODE genetics, Reykjavik, Iceland.
2 Department of Medicine, Landspitali University Hospital, Reykjavik, Iceland.
3 University of Iceland, Faculty of Medicine, Reykjavik, Iceland.
4 Institute of Clinical Medicine, University of Troms?, Troms?, Norway.
5 Department of Neurology, University Hospital of North Norway, Troms?, Norway.
6 Institute of Community Medicine, University of Troms?, Troms?, Norway.
7 Department of Geriatrics, University Hospital of North Norway, Troms?, Norway.
8 Department of Cardiology, University Hospital of North Norway, Troms?, Norway.
9 Department of Public Health and General Practice, Norwegian University of Science and Technology, Trondheim, Norway.
10 Norwegian Institute of Public Health, Oslo, Norway.
11 These authors contributed equally to this work.
