A rare variant in MYH6 is associated with high risk of sick sinus syndrome.
Average rating
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item.
When enough users have cast their vote on this item, the average rating will also be shown.
Star rating
Your vote was cast
Thank you for your feedback
Thank you for your feedback
Authors
Holm, HilmaGudbjartsson, Daniel F
Sulem, Patrick
Masson, Gisli
Helgadottir, Hafdis Th
Zanon, Carlo
Magnusson, Olafur Th
Helgason, Agnar
Saemundsdottir, Jona
Gylfason, Arnaldur
Stefansdottir, Hrafnhildur
Gretarsdottir, Solveig
Matthiasson, Stefan E
Thorgeirsson, Gudmundur
Jonasdottir, Aslaug
Sigurdsson, Asgeir
Stefansson, Hreinn
Werge, Thomas
Rafnar, Thorunn
Kiemeney, Lambertus A
Parvez, Babar
Muhammad, Raafia
Roden, Dan M
Darbar, Dawood
Thorleifsson, Gudmar
Walters, G Bragi
Kong, Augustine
Thorsteinsdottir, Unnur
Arnar, David O
Stefansson, Kari
Issue Date
2011-03
Metadata
Show full item recordCitation
Nat. Genet. 2011, 43(4):316-20Abstract
Through complementary application of SNP genotyping, whole-genome sequencing and imputation in 38,384 Icelanders, we have discovered a previously unidentified sick sinus syndrome susceptibility gene, MYH6, encoding the alpha heavy chain subunit of cardiac myosin. A missense variant in this gene, c.2161C>T, results in the conceptual amino acid substitution p.Arg721Trp, has an allelic frequency of 0.38% in Icelanders and associates with sick sinus syndrome with an odds ratio = 12.53 and P = 1.5 × 10(-29). We show that the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for non-carriers of c.2161C>T but is approximately 50% for carriers of the c.2161C>T variant.Description
To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldAdditional Links
http://dx.doi.org/10.1038/ng.781ae974a485f413a2113503eed53cd6c53
10.1038/ng.781
Scopus Count
Collections
Related articles
- Novel mutation in the α-myosin heavy chain gene is associated with sick sinus syndrome.
- Authors: Ishikawa T, Jou CJ, Nogami A, Kowase S, Arrington CB, Barnett SM, Harrell DT, Arimura T, Tsuji Y, Kimura A, Makita N
- Issue date: 2015 Apr
- A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.
- Authors: Bjornsson T, Thorolfsdottir RB, Sveinbjornsson G, Sulem P, Norddahl GL, Helgadottir A, Gretarsdottir S, Magnusdottir A, Danielsen R, Sigurdsson EL, Adalsteinsdottir B, Gunnarsson SI, Jonsdottir I, Arnar DO, Helgason H, Gudbjartsson T, Gudbjartsson DF, Thorsteinsdottir U, Holm H, Stefansson K
- Issue date: 2018 Sep 7
- Next-generation association studies for complex traits.
- Authors: Zeggini E
- Issue date: 2011 Mar 29
- Several common variants modulate heart rate, PR interval and QRS duration.
- Authors: Holm H, Gudbjartsson DF, Arnar DO, Thorleifsson G, Thorgeirsson G, Stefansdottir H, Gudjonsson SA, Jonasdottir A, Mathiesen EB, Njølstad I, Nyrnes A, Wilsgaard T, Hald EM, Hveem K, Stoltenberg C, Løchen ML, Kong A, Thorsteinsdottir U, Stefansson K
- Issue date: 2010 Feb
- Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction.
- Authors: Theis JL, Zimmermann MT, Evans JM, Eckloff BW, Wieben ED, Qureshi MY, O'Leary PW, Olson TM
- Issue date: 2015 Aug