Common variants at ten loci modulate the QT interval duration in the QTSCD Study.

Tytuł:: Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
Autorzy:: Pfeufer A; Institute of Human Genetics, Helmholtz Center Munich, Germany. />Sanna S
Arking DE
Müller M
Gateva V
Fuchsberger C
Ehret GB
Orrú M
Pattaro C
Köttgen A
Perz S
Usala G
Barbalic M
Li M
Pütz B
Scuteri A
Prineas RJ
Sinner MF
Gieger C
Najjar SS
Kao WH
Mühleisen TW
Dei M
Happle C
Möhlenkamp S
Crisponi L
Erbel R
Jöckel KH
Naitza S
Steinbeck G
Marroni F
Hicks AA
Lakatta E
Müller-Myhsok B
Pramstaller PP
Wichmann HE
Schlessinger D
Boerwinkle E
Meitinger T
Uda M
Coresh J
Kääb S
Abecasis GR
Chakravarti A
Źródło:: Nature genetics [Nat Genet] 2009 Apr; Vol. 41 (4), pp. 407-14. Date of Electronic Publication: 2009 Mar 22.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Original Publication: New York, NY : Nature Pub. Co., c1992-
MeSH Terms:: Genetic Variation*
Arrhythmias, Cardiac/*genetics
Ion Channels/*genetics
Long QT Syndrome/*genetics
Chromosome Mapping ; ERG1 Potassium Channel ; Electrocardiography ; Electrophysiology/methods ; Ether-A-Go-Go Potassium Channels/genetics ; Heart/physiology ; Heart/physiopathology ; Humans ; KCNQ1 Potassium Channel/genetics ; Muscle Proteins/genetics ; NAV1.5 Voltage-Gated Sodium Channel ; Potassium Channels, Inwardly Rectifying/genetics ; Reproducibility of Results ; Sodium Channels/genetics
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Grant Information:: N01HC55020 United States HL NHLBI NIH HHS; N01HC55018 United States HL NHLBI NIH HHS; UL1 RR025005 United States RR NCRR NIH HHS; N01-HC-55016 United States HC NHLBI NIH HHS; N01HC55015 United States HL NHLBI NIH HHS; N01-HC-55019 United States HC NHLBI NIH HHS; 263-MA-410953 United States PHS HHS; United States ImNIH Intramural NIH HHS; N01HC55019 United States HL NHLBI NIH HHS; U10 HL054512 United States HL NHLBI NIH HHS; N01-HC-55022 United States HC NHLBI NIH HHS; N01-AG-12109 United States AG NIA NIH HHS; R01 HL059367 United States HL NHLBI NIH HHS; R01 HL086694 United States HL NHLBI NIH HHS; R01 HL59367 United States HL NHLBI NIH HHS; U01 HG004402 United States HG NHGRI NIH HHS; N01HC55022 United States HL NHLBI NIH HHS; N01-HC-55021 United States HC NHLBI NIH HHS; N01-HC-55015 United States HC NHLBI NIH HHS; HL054512 United States HL NHLBI NIH HHS; HL86694 United States HL NHLBI NIH HHS; U01 HL054512-13 United States HL NHLBI NIH HHS; R01 HL086694-03 United States HL NHLBI NIH HHS; HHSN 268200625226C United States PHS HHS; N01-HC-55020 United States HC NHLBI NIH HHS; N01HC55016 United States HL NHLBI NIH HHS; N01-HC-55018 United States HC NHLBI NIH HHS; N01HC55021 United States HL NHLBI NIH HHS; U01 HL054512 United States HL NHLBI NIH HHS; R01 HL087641 United States HL NHLBI NIH HHS
Substance Nomenclature:: 0 (ERG1 Potassium Channel)
0 (Ether-A-Go-Go Potassium Channels)
0 (Ion Channels)
0 (KCNH2 protein, human)
0 (KCNJ2 protein, human)
0 (KCNQ1 Potassium Channel)
0 (KCNQ1 protein, human)
0 (Muscle Proteins)
0 (NAV1.5 Voltage-Gated Sodium Channel)
0 (Potassium Channels, Inwardly Rectifying)
0 (SCN5A protein, human)
0 (Sodium Channels)
Entry Date(s):: Date Created: 20090324 Date Completed: 20090514 Latest Revision: 20220310
Update Code:: 20240104
PubMed Central ID:: PMC2976045
DOI:: 10.1038/ng.362
PMID:: 19305409
: Czasopismo naukowe

Pełny tekst

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 x 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.

Comment in: Nat Genet. 2009 Apr;41(4):388-9. (PMID: 19338079)

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