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A rare variant in MYH6 is associated with high risk of sick sinus syndrome |
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| Authors: | Holm Hilma Gudbjartsson 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 Gu Mundur 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 |
| Institution: | deCODE Genetics, Sturlugata 8, Reykjavik, Iceland. hilma.holm@decode.is |
| 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 = 12.53 and P = 1.5 × 10?2?. 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. |
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