A rare variant in MYH6 is associated with high risk of sick sinus syndrome
Research output: Contribution to journal › Journal article › Research › peer-review
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.
Original language | English |
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Journal | Nature Genetics |
Volume | 43 |
Issue number | 4 |
Pages (from-to) | 316-20 |
Number of pages | 5 |
ISSN | 1061-4036 |
DOIs | |
Publication status | Published - 1 Apr 2011 |
ID: 34193718