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Nat Genet. 2011 Mar 6;43(4):316-20. doi: 10.1038/ng.781.

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

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1
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 × 10⁻²⁹. 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.

PMID:
21378987
PMCID:
PMC3066272
DOI:
10.1038/ng.781
[Indexed for MEDLINE]
Free PMC Article
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