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      A rare variant in MYH6 is associated with high risk of sick sinus syndrome.

      Nature genetics

      Aged, Aged, 80 and over, Cardiac Myosins, genetics, Case-Control Studies, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Heart Diseases, Heart Rate, Heterozygote, Humans, Iceland, Male, Middle Aged, Mutation, Missense, Myosin Heavy Chains, Odds Ratio, Oligonucleotide Array Sequence Analysis, Penetrance, Polymorphism, Single Nucleotide, Sick Sinus Syndrome, physiopathology, Adult

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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 = 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.

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          Author and article information

          Journal
          21378987
          10.1038/ng.781
          3066272

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