一個國際研究小組14日在英國《自然·遺傳學》雜志上報告說，通過對數(shù)萬人進行全基因組關聯(lián)分析,，該小組發(fā)現(xiàn)一批控制心跳信號的基因,，這將有助于對心律不齊和心臟驟停等疾病的深入研究。
由英國,、美國,、德國和荷蘭等多國研究人員組成的這個小組報告說，他們分析了約5萬人的基因和健康數(shù)據(jù),，確定了人類基因組中22個基因位點對心跳信號有影響,。
參與研究的英國愛丁堡大學博士吉姆·威爾遜說,，這是一項重要研究成果，它可以幫助醫(yī)學界在更深層次上理解心臟系統(tǒng)中電信號的工作機制,，并在此基礎上進一步研發(fā)針對心律不齊和心臟驟停等疾病的新治療手段,。（生物谷Bioon.com）
生物谷推薦英文摘要：
Nature Genetics doi:10.1038/ng.716
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction
Nona Sotoodehnia1,2,78, Aaron Isaacs3,4,78, Paul I W de Bakker5,6,7,8,78, Marcus D?rr9,78, Christopher Newton-Cheh10,11,12,78, Ilja M Nolte13,78, Pim van der Harst14,78, Martina Müller15,16,17,78, Mark Eijgelsheim18,78, Alvaro Alonso19,78, Andrew A Hicks20,78, Sandosh Padmanabhan21,78, Caroline Hayward22,78, Albert Vernon Smith23,24,78, Ozren Polasek25,78, Steven Giovannone26,78, Jingyuan Fu13,27,78, Jared W Magnani12,28, Kristin D Marciante2, Arne Pfeufer20,29,30, Sina A Gharib31, Alexander Teumer32, Man Li33, Joshua C Bis2, Fernando Rivadeneira18,34, Thor Aspelund23,24, Anna K?ttgen35, Toby Johnson36,37, Kenneth Rice38, Mark P S Sie3, Ying A Wang12,39, Norman Klopp17, Christian Fuchsberger20, Sarah H Wild40, Irene Mateo Leach14, Karol Estrada34, Uwe V?lker32, Alan F Wright22, Folkert W Asselbergs13,14,41, Jiaxiang Qu26, Aravinda Chakravarti42, Moritz F Sinner16, Jan A Kors43, Astrid Petersmann44, Tamara B Harris45, Elsayed Z Soliman46, Patricia B Munroe36,37, Bruce M Psaty2,47,48,49, Ben A Oostra4,50, L Adrienne Cupples12,39, Siegfried Perz51, Rudolf A de Boer14, André G Uitterlinden18,34,52, Henry V?lzke53, Timothy D Spector54, Fang-Yu Liu26, Eric Boerwinkle55,56, Anna F Dominiczak21, Jerome I Rotter57, Gé van Herpen43, Daniel Levy12,58, H-Erich Wichmann15,17,59, Wiek H van Gilst14, Jacqueline C M Witteman18,52, Heyo K Kroemer60, W H Linda Kao33, Susan R Heckbert2,47,49, Thomas Meitinger29,30, Albert Hofman18,52, Harry Campbell40, Aaron R Folsom19, Dirk J van Veldhuisen14, Christine Schwienbacher20,61, Christopher J O'Donnell12,58, Claudia Beu Volpato20, Mark J Caulfield36,37, John M Connell62, Lenore Launer45, Xiaowen Lu13, Lude Franke27,63, Rudolf S N Fehrmann27, Gerard te Meerman27, Harry J M Groen64, Rinse K Weersma65, Leonard H van den Berg66, Cisca Wijmenga27, Roel A Ophoff67,68, Gerjan Navis69, Igor Rudan40,70,71,78, Harold Snieder13,54,78, James F Wilson40,78, Peter P Pramstaller20,72,73,78, David S Siscovick2,47,78, Thomas J Wang11,12,78, Vilmundur Gudnason23,24,78, Cornelia M van Duijn3,4,52,78, Stephan B Felix9,78, Glenn I Fishman26,78, Yalda Jamshidi54,74,78, Bruno H Ch Stricker18,34,43,52,75,78, Nilesh J Samani76,77,78, Stefan K??b16,78 & Dan E Arking42,78
The QRS interval, from the beginning of the Q wave to the end of the S wave on an electrocardiogram, reflects ventricular depolarization and conduction time and is a risk factor for mortality, sudden death and heart failure. We performed a genome-wide association meta-analysis in 40,407 individuals of European descent from 14 studies, with further genotyping in 7,170 additional Europeans, and we identified 22 loci associated with QRS duration (P < 5 × 10?8). These loci map in or near genes in pathways with established roles in ventricular conduction such as sodium channels, transcription factors and calcium-handling proteins, but also point to previously unidentified biologic processes, such as kinase inhibitors and genes related to tumorigenesis. We demonstrate that SCN10A, a candidate gene at the most significantly associated locus in this study, is expressed in the mouse ventricular conduction system, and treatment with a selective SCN10A blocker prolongs QRS duration. These findings extend our current knowledge of ventricular depolarization and conduction.
