Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
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DOI：
10.1038/ng.362
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发表时间：
2009-04
期刊：
影响因子：
30.8
通讯作者：
Chakravarti, Aravinda
中科院分区：
文献类型：
--
作者：
Pfeufer, Arne;Sanna, Serena;Arking, Dan E.;Mueller, Martina;Gateva, Vesela;Fuchsberger, Christian;Ehret, Georg B.;Orru, Marco;Pattaro, Cristian;Koettgen, Anna;Perz, Siegfried;Usala, Gianluca;Barbalic, Maja;Li, Man;Puetz, Benno;Scuteri, Angelo;Prineas, Ronald J.;Sinner, Moritz F.;Gieger, Christian;Najjar, Samer S.;Kao, W. H. Linda;Muehleisen, Thomas W.;Dei, Mariano;Happle, Christine;Moehlenkamp, Stefan;Crisponi, Laura;Erbel, Raimund;Joeckel, Karl-Heinz;Naitza, Silvia;Steinbeck, Gerhard;Marroni, Fabio;Hicks, Andrew A.;Lakatta, Edward;Mueller-Myhsok, Bertram;Pramstaller, Peter P.;Wichmann, H-Erich;Schlessinger, David;Boerwinkle, Eric;Meitinger, Thomas;Uda, Manuela;Coresh, Josef;Kaeaeb, Stefan;Abecasis, Goncalo R.;Chakravarti, Aravinda
QT间期是心脏复极的量度，当其延长或缩短时，容易发生室性心律失常和心源性猝死（SCD）。已知NOS 1AP中的一种常见变体影响复极。我们分析了来自五个基于人群的队列（ARIC，KORA，SardiNIA，GenNOVA和HNR）的全基因组数据，共有15，842名欧洲血统的个体，以确认NOS 1AP关联并在P < 5 × 10−8时识别出9个额外的基因座。四个位点位于单基因长QT综合征基因KCNQ 1、KCNH 2、SCN 5A和KCNJ 2附近。另外两个基因座包括ATP 1B 1和PLN，这两个基因具有已确定的电生理功能，而三个基因分别位于LITAF附近和NDRG 4-GINS 3-SET D 6-hocT 1内的RNF 207，所有这些基因座以前都没有涉及心脏电生理学。这些结果，连同QTGEN联盟的一篇随附论文，确定了室性心律失常和SCD的新候选基因。
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.
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影响因子：
64.8
作者：
Emison, ES;McCallion, AS;Chakravarti, A
通讯作者：
Chakravarti, A
影响因子：
--
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通讯作者：
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影响因子：
30.8
作者：
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通讯作者：
Chakravarti, Aravinda
影响因子：
30.8
作者：
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通讯作者：
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1.8
作者：
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通讯作者：
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