A rare variant in MYH6 is associated with high risk of sick sinus syndrome
Nature genetics, 2011•nature.com
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 …
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 …
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.
nature.com