Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.

doi:10.1016/j.ajhg.2012.07.017

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.

American journal of human genetics - 7 Sept 2012

Bick Alexander G, Flannick Jason, Ito Kaoru, Cheng Susan, Vasan Ramachandran S, Parfenov Michael G, Herman Daniel S, DePalma Steven R, Gupta Namrata, Gabriel Stacey B, Funke Birgit H, Rehm Heidi L, Benjamin Emelia J, Aragam Jayashri, Taylor Herman A, Fox Ervin R, Newton-Cheh Christopher, Kathiresan Sekar, O'Donnell Christopher J, Wilson James G, Altshuler David M, Hirschhorn Joel N, Seidman J G, Seidman Christine

Abstract excerpt

Rare sarcomere protein variants cause dominant hypertrophic and dilated cardiomyopathies. To evaluate whether allelic variants in eight sarcomere genes are associated with cardiac morphology and function in the community, we sequenced 3,600 individuals from the Framingham Heart Study (FHS) and Jackson Heart Study (JHS) cohorts. Out of the total, 11.2% of individuals had one or more rare nonsynonymous sarcomere...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged, 80 and over

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiomyopathy, Dilated

Share to Cardiomyopathy, Hypertrophic

Share to Cardiovascular Diseases

Share to Cohort Studies

Share to Models, Cardiovascular

Share to Risk Factors

Share to Sarcomeres

Source

Open in PubMed Open full text

Identifiers

PMID: 22958901
DOI: 10.1016/j.ajhg.2012.07.017
PMCID: PMC3511985

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.PMID 22958901Read ↗

Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

Outcomes and phenotypic expression of rare variants in hypertrophic cardiomyopathy genes amongst UK Biobank participantsSemantic proximity Read ↗

Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.Semantic proximity Read ↗

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.Semantic proximity Read ↗

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yieldSemantic proximity Read ↗

Characteristics and outcomes associated with sarcomere mutations in patients with hypertrophic cardiomyopathy: A systematic review and meta-analysis.Semantic proximity Read ↗

Polygenic Risk Modifies Penetrance and Outcomes in Hypertrophic Cardiomyopathy: Insights from a US-Based Multi-Ancestry CohortSemantic proximity Read ↗

Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.Semantic proximity Read ↗

Cardiovascular Health and Outcomes in Carriers With Genetic Variants of Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

Population-based variation in cardiomyopathy genes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.