Literature DB >> 17227789

The common non-synonymous variant G38S of the KCNE1-(minK)-gene is not associated to QT interval in Central European Caucasians: results from the KORA study.

Mahmut Akyol1, Shapour Jalilzadeh, Moritz F Sinner, Siegfried Perz, Britt M Beckmann, Christian Gieger, Thomas Illig, H-Erich Wichmann, Thomas Meitinger, Stefan Kääb, Arne Pfeufer.   

Abstract

AIMS: The QT interval in the general population is a complex trait with 30-50% heritability. QT prolongation is associated with an increased risk of sudden death. A recent family-based study found an association between QT interval and the common non-synonymous Glycin 38 Serine variant (G38S, rs1805127) of the KCNE1 gene coding for the minK-potassium channel subunit. We intended to replicate this finding in a large population sample of central European Caucasian ancestry as part of our ongoing search for genetic variants predisposing to arrhythmias. METHODS AND
RESULTS: We studied 3966 unrelated individuals from the KORA S4 population-based study without atrial fibrillation, pacemaker implant, or pregnancy. Individuals were genotyped by MALDI-TOF mass spectrometry. We did not detect any significant association between the genotypes of the G38S variant and the QT interval in the entire population or in any gender.
CONCLUSION: Unlike the common Lysine 897 Threonine variant of KCNH2 (K897T, rs1805123) the G38S variant of KCNE1 does not appear to have a strong modifying effect on QT interval. However, we cannot rule out an effect of G38S on QT in other ethnic groups, under exercise or medications or on the risk for arrhythmias and sudden death.

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Year:  2007        PMID: 17227789     DOI: 10.1093/eurheartj/ehl460

Source DB:  PubMed          Journal:  Eur Heart J        ISSN: 0195-668X            Impact factor:   29.983


  10 in total

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4.  Positive selection at codon 38 of the human KCNE1 (= minK) gene and sporadic absence of 38Ser-coding mRNAs in Gly38Ser heterozygotes.

Authors:  Holger Herlyn; Ulrich Zechner; Franz Oswald; Arne Pfeufer; Hans Zischler; Thomas Haaf
Journal:  BMC Evol Biol       Date:  2009-08-06       Impact factor: 3.260

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7.  Latent pathogenicity of the G38S polymorphism of KCNE1 K+ channel modulator.

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Authors:  Arne Pfeufer; Serena Sanna; Dan E Arking; Martina Müller; Vesela Gateva; Christian Fuchsberger; Georg B Ehret; Marco Orrú; Cristian Pattaro; Anna Köttgen; Siegfried Perz; Gianluca Usala; Maja Barbalic; Man Li; Benno Pütz; Angelo Scuteri; Ronald J Prineas; Moritz F Sinner; Christian Gieger; Samer S Najjar; W H Linda Kao; Thomas W Mühleisen; Mariano Dei; Christine Happle; Stefan Möhlenkamp; Laura Crisponi; Raimund Erbel; Karl-Heinz Jöckel; Silvia Naitza; Gerhard Steinbeck; Fabio Marroni; Andrew A Hicks; Edward Lakatta; Bertram Müller-Myhsok; Peter P Pramstaller; H-Erich Wichmann; David Schlessinger; Eric Boerwinkle; Thomas Meitinger; Manuela Uda; Josef Coresh; Stefan Kääb; Gonçalo R Abecasis; Aravinda Chakravarti
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  10 in total

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