| A rare variant in MYH6 is associated with high risk of sick sinus syndrome. | |
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MedLine Citation:
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PMID: 21378987 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Hilma Holm; Daniel F Gudbjartsson; Patrick Sulem; Gisli Masson; Hafdis Th Helgadottir; Carlo Zanon; Olafur Th Magnusson; Agnar Helgason; Jona Saemundsdottir; Arnaldur Gylfason; Hrafnhildur Stefansdottir; Solveig Gretarsdottir; Stefan E Matthiasson; Gu Mundur Thorgeirsson; Aslaug Jonasdottir; Asgeir Sigurdsson; Hreinn Stefansson; Thomas Werge; Thorunn Rafnar; Lambertus A Kiemeney; Babar Parvez; Raafia Muhammad; Dan M Roden; Dawood Darbar; Gudmar Thorleifsson; G Bragi Walters; Augustine Kong; Unnur Thorsteinsdottir; David O Arnar; Kari Stefansson |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Extramural; Validation Studies Date: 2011-03-06 |
Journal Detail:
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Title: Nature genetics Volume: 43 ISSN: 1546-1718 ISO Abbreviation: Nat. Genet. Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-03-29 Completed Date: 2011-05-09 Revised Date: 2011-09-26 |
Medline Journal Info:
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Nlm Unique ID: 9216904 Medline TA: Nat Genet Country: United States |
Other Details:
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Languages: eng Pagination: 316-20 Citation Subset: IM |
Affiliation:
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deCODE Genetics, Sturlugata 8, Reykjavik, Iceland. hilma.holm@decode.is |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Aged Aged, 80 and over Cardiac Myosins / genetics* Case-Control Studies Female Genetic Predisposition to Disease Genetic Variation Genome-Wide Association Study Heart Diseases / genetics Heart Rate / genetics Heterozygote Humans Iceland Male Middle Aged Mutation, Missense* Myosin Heavy Chains / genetics* Odds Ratio Oligonucleotide Array Sequence Analysis Penetrance Polymorphism, Single Nucleotide Sick Sinus Syndrome / genetics*, physiopathology |
| Grant Support | |
ID/Acronym/Agency:
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HL092217/HL/NHLBI NIH HHS; R01 HL092217-03/HL/NHLBI NIH HHS; U19 HL065962-10/HL/NHLBI NIH HHS; U19HL065962/HL/NHLBI NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/MYH6 protein, human; 0/Myosin Heavy Chains; EC 3.6.1.-/Cardiac Myosins |
| Comments/Corrections | |
Comment In:
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Nat Genet. 2011 Apr;43(4):287-8
[PMID:
21445070
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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