一個由40多名科研人員組成的國際研究團隊22日宣布,，他們發(fā)現(xiàn)10種常見基因變體可以通過干擾心律加重人猝死幾率。
這一研究團隊對15842名研究對象采取心電圖檢查和基因組分析后發(fā)現(xiàn),，一種名為“Nos1ap”的基因及其9種變體可改變心臟肌肉收縮時間即QT間期,，進而導(dǎo)致猝死危險上升。
QT間期反映每次心跳過程中從心室受到刺激至心肌活動結(jié)束這段時間的生物電活動,。QT間期異?？杀憩F(xiàn)為嚴重心律不齊，QT間期過長,，猝死幾率更高,。
心臟病可導(dǎo)致QT間期過長這種心律異常情況幾率上升，但一般很難發(fā)現(xiàn)人體遺傳有這些“猝死基因”,。
團隊成員,、美國約翰斯·霍普金斯大學(xué)醫(yī)學(xué)院講師丹·阿金博士說，科研人員已知“Nos1ap”基因會引發(fā)心臟疾病,，但那9種新發(fā)現(xiàn)基因變體中“近半數(shù)以前從未有人認為它們與心臟生理學(xué)相關(guān)”,。
“從某種意義上說，問題在于大多數(shù)人不知道這些風(fēng)險,。他們沒有患高膽固醇,，也不肥胖”，阿金說,，這些基因或許是導(dǎo)致他們中一些人猝死的唯一原因,。
據(jù)世界衛(wèi)生組織統(tǒng)計，心臟病是危害人類健康的“頭號殺手”,，每年在全球范圍致死1700萬人,。
路透社援引阿金的話說，這一研究團隊下一階段將找出這10種基因分別能在多大程度加重猝死危險,，以利于開發(fā)相應(yīng)藥物和療法,。
這一研究成果發(fā)表于英國《自然》雜志子刊物《自然遺傳學(xué)》雜志。（生物谷Bioon.com）
生物谷推薦原始出處：
Nature Genetics 22 March 2009 | doi:10.1038/ng.362
Common variants at ten loci modulate the QT interval duration in the QTSCD Study
Arne Pfeufer1,2,25, Serena Sanna3,25, Dan E Arking4,25, Martina Müller5,6,7, Vesela Gateva8, Christian Fuchsberger9, Georg B Ehret4, Marco Orrú3, Cristian Pattaro9, Anna K?ttgen10, Siegfried Perz11, Gianluca Usala3, Maja Barbalic12, Man Li10, Benno Pütz13, Angelo Scuteri14, Ronald J Prineas15, Moritz F Sinner7, Christian Gieger5, Samer S Najjar16, W H Linda Kao10, Thomas W. Mühleisen17,18, Mariano Dei3, Christine Happle1,2, Stefan M?hlenkamp19, Laura Crisponi3, Raimund Erbel19, Karl-Heinz J?ckel20, Silvia Naitza3, Gerhard Steinbeck7, Fabio Marroni9, Andrew A Hicks9, Edward Lakatta16, Bertram Müller-Myhsok13, Peter P Pramstaller9,21,22, H-Erich Wichmann5,6, David Schlessinger23, Eric Boerwinkle12, Thomas Meitinger1,2, Manuela Uda3, Josef Coresh10,24, Stefan K??b7, Gon?alo R Abecasis8 & Aravinda Chakravarti4,24
The QT interval, a measure of cardiac repolarization, predisposes to ventricular arrhythmias and sudden cardiac death (SCD) when prolonged or shortened. A common variant in NOS1AP is known to influence repolarization. We analyze genome-wide data from five population-based cohorts (ARIC, KORA, SardiNIA, GenNOVA and HNR) with a total of 15,842 individuals of European ancestry, to confirm the NOS1AP association and identify nine additional loci at P < 5 10-8. Four loci map near the monogenic long-QT syndrome genes KCNQ1, KCNH2, SCN5A and KCNJ2. Two other loci include ATP1B1 and PLN, genes with established electrophysiological function, whereas three map to RNF207, near LITAF and within NDRG4-GINS3-SETD6-CNOT1, respectively, all of which have not previously been implicated in cardiac electrophysiology. These results, together with an accompanying paper from the QTGEN consortium, identify new candidate genes for ventricular arrhythmias and SCD.
1 Institute of Human Genetics, Helmholtz Center Munich, Germany.
2 Institute of Human Genetics, Klinikum rechts der Isar der Technischen Universit?t München, Munich, Germany.
3 Istituto di Neurogenetica e Neurofarmacologia, CNR, Monserrato, Cagliari, Italy.
4 McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
5 Institute of Epidemiology, Helmholtz Center Munich, Germany.
6 Institute of Informatics, Biometry and Epidemiology, Ludwig-Maximilians-Universit?t, Munich, Germany.
7 Department of Medicine I, Klinikum Grosshadern, Munich, Germany.
8 Center for Statistical Genetics, Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA.
9 Institute of Genetic Medicine, EURAC European Academy, Bolzano, Italy.
10 Department of Epidemiology, Johns Hopkins University, Baltimore, Maryland, USA.
11 Institute of Medical Informatics, Helmholtz Center Munich, Germany.
12 Genetics Center, University of Texas Health Science Center, Houston, Texas, USA.
13 Statistical Genetics, Max Planck Institute of Psychiatry, Munich, Germany.
14 Unità Operativa Geriatria, Istituto Ricovero e Cura per Anziani, Rome, Italy.
15 Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.
16 Laboratory of Cardiovascular Science, Gerontology Research Center, National Institute on Aging, Baltimore, Maryland, USA.
17 Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany.
18 Institute of Human Genetics, University of Bonn, Bonn, Germany.
19 Clinic of Cardiology, West German Heart Center, University Hospital of Essen, University Duisburg-Essen, Germany.
20 Institute for Medical Informatics, Biometry and Epidemiology, University Hospital of Essen, University Duisburg-Essen, Germany.
21 Department of Neurology, General Central Hospital, Via Bohler 5, Bolzano, Italy.
22 Department of Neurology, University of Lübeck, Lübeck, Germany.
23 Laboratory of Genetics, National Institute on Aging, Baltimore, Maryland, USA.
24 Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
25 These authors contributed equally to this work.
