Published in
Nature Research, Nature Genetics, 4(43), p. 316-320
DOI: 10.1038/ng.781
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A rare variant in MYH6 is associated with high risk of sick sinus syndrome
,
Patrick Sulem,
Gisli Masson,
Hafdis Th Helgadottir,
Carlo Zanon,
Olafur Th Magnusson,
Agnar Helgason,
Jona Saemundsdottir,
Arnaldur Gylfason,
Hrafnhildur Stefansdottir,
Solveig Gretarsdottir,
Stefan E. Matthiasson,
Gu∂mundur M. Thorgeirsson,
Aslaug Jonasdottir
and other authors.
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Abstract
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 = 1 2.53 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.