Dataset Information

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

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?²?. 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.

SUBMITTER: Holm H

PROVIDER: S-EPMC3066272 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

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

Holm Hilma H Gudbjartsson Daniel F DF Sulem Patrick P Masson Gisli G Helgadottir Hafdis Th HT Zanon Carlo C Magnusson Olafur Th OT Helgason Agnar A Saemundsdottir Jona J Gylfason Arnaldur A Stefansdottir Hrafnhildur H Gretarsdottir Solveig S Matthiasson Stefan E SE Thorgeirsson Gu Mundur GM Jonasdottir Aslaug A Sigurdsson Asgeir A Stefansson Hreinn H Werge Thomas T Rafnar Thorunn T Kiemeney Lambertus A LA Parvez Babar B Muhammad Raafia R Roden Dan M DM Darbar Dawood D Thorleifsson Gudmar G Walters G Bragi GB Kong Augustine A Thorsteinsdottir Unnur U Arnar David O DO Stefansson Kari K

Nature genetics 20110306 4

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 × ...[more]

PMID: 21378987

Dataset Information

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

Publications

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

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets

Similar Datasets

Aging-associated sinus arrest and sick sinus syndrome in adult zebrafish.
| S-EPMC7219707 | biostudies-literature

Genetics of sick sinus syndrome.
| S-EPMC3076695 | biostudies-literature

Genetic insight into sick sinus syndrome.
| S-EPMC8140484 | biostudies-literature

Incidence of and risk factors for sick sinus syndrome in the general population.
| S-EPMC4139053 | biostudies-literature

Familial sick sinus syndrome possibly associated with novel <i>SCN5A</i> mutation diagnosed in pregnancy.
| S-EPMC7897738 | biostudies-literature

Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome.
| S-EPMC4720851 | biostudies-literature

Promoter polymorphism G-6A, which modulates angiotensinogen gene expression, is associated with non-familial sick sinus syndrome.
| S-EPMC3252346 | biostudies-literature

A Novel SCN5A Variant Causes Temperature-Sensitive Loss Of Function in a Family with Symptomatic Brugada Syndrome, Cardiac Conduction Disease, and Sick Sinus Syndrome.
| S-EPMC8743901 | biostudies-literature

Transient Notch Activation Induces Long-term Gene Expression Changes Leading to Sick Sinus Syndrome in Mice
2018-01-01 | GSE100244 | GEO

CHADS2 and CHA2DS2-VASc score to assess risk of stroke and death in patients paced for sick sinus syndrome.
| S-EPMC3664372 | biostudies-literature