| Literature DB >> 21378987 |
Hilma Holm1, Daniel F Gudbjartsson, 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 Thorgeirsson, Aslaug Jonasdottir, Asgeir Sigurdsson, Hreinn Stefansson, Thomas Werge, Thorunn Rafnar, Lambertus A Kiemeney, Babar Parvez, Raafia Muhammad, Dan M Roden, Dawood Darbar, Gudmar Thorleifsson, G Bragi Walters, Augustine Kong, Unnur Thorsteinsdottir, David O Arnar, Kari Stefansson.
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 × 10⁻²⁹. 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.Entities:
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Year: 2011 PMID： 21378987 PMCID： PMC3066272 DOI： 10.1038/ng.781
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330