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HOLM, Hilma; GUDBJARTSSON, Daniel F; STEFANSDOTTIR, Hrafnhildur; GRETARSDOTTIR, Solveig; MATTHIASSON, Stefan E; THORGEIRSSON, Guðmundur; JONASDOTTIR, Aslaug; SIGURDSSON, Asgeir; STEFANSSON, Hreinn; WERGE, Thomas; RAFNAR, Thorunn; KIEMENEY, Lambertus A; SULEM, Patrick; PARVEZ, Babar; MUHAMMAD, Raafia; RODEN, Dan M; DARBAR, Dawood; THORLEIFSSON, Gudmar; BRAGI WALTERS, G; KONG, Augustine; THORSTEINSDOTTIR, Unnur; ARNAR, David O; STEFANSSON, Kari; MASSON, Gisli; HAFDIS TH HELGADOTTIR; ZANON, Carlo; OLAFUR TH MAGNUSSON; HELGASON, Agnar; SAEMUNDSDOTTIR, Jona; GYLFASON, Arnaldur
Nature genetics, 04/2011, Letnik: 43, Številka: 4Journal Article
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.
