A rare variant in MYH6 is associated with high risk of sick sinus syndrome
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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 × 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.
Originalsprog | Engelsk |
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Tidsskrift | Nature Genetics |
Vol/bind | 43 |
Udgave nummer | 4 |
Sider (fra-til) | 316-20 |
Antal sider | 5 |
ISSN | 1061-4036 |
DOI | |
Status | Udgivet - 1 apr. 2011 |
ID: 34193718