Journal
NATURE GENETICS
Volume 43, Issue 4, Pages 316-U148Publisher
NATURE PORTFOLIO
DOI: 10.1038/ng.781
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- US National Institutes of Health [U19HL065962, HL092217]
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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 x 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.
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