ArticleCirculation. Cardiovascular genetics2013
Formin homology 2 domain containing 3 variants associated with hypertrophic cardiomyopathy.
Article in Circulation. Cardiovascular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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47 citing papers in PubMed, 1 synthesis or guideline pooled it, 85 citations in OpenAlex.
- Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.Nature genetics · 2021Pooled it
- Revisiting the Genetics of Hypertrophic Cardiomyopathy: From Sarcomeres to Polygenic Modulation and Clinical Translation.Journal of clinical medicine · 2026Review
- Hypertrophic Cardiomyopathy is a Disease of Sarcomere Proteins.Methodist DeBakey cardiovascular journal · 2026Review
- A novel FHOD3 splice-site variant in a Chinese family with hypertrophic cardiomyopathy: a case report.Frontiers in cardiovascular medicine · 2026Article
- Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling.Frontiers in cardiovascular medicine · 2025Article
- FHOD-1 and profilin protect sarcomeres against contraction-induced deformation> inMolecular biology of the cell · 2024Article
- The Genetic Factors Influencing Cardiomyopathies and Heart Failure across the Allele Frequency Spectrum.Journal of cardiovascular translational research · 2024Review
- Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.International journal of molecular sciences · 2024Review
- FHOD-1/profilin-mediated actin assembly protects sarcomeres against contraction-induced deformation inbioRxiv : the preprint server for biology · 2024Article
- Unveiling Immune Infiltration Characterizing Genes in Hypertrophic Cardiomyopathy Through Transcriptomics and Bioinformatics.Journal of inflammation research · 2024Article
- Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.European heart journal · 2023Article
- Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy.Circulation. Genomic and precision medicine · 2023Article
- Article
- Actin-Binding Proteins in Cardiac Hypertrophy.Cells · 2022Review
- The Mechanisms of Thin Filament Assembly and Length Regulation in Muscles.International journal of molecular sciences · 2022Review
- Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.NPJ genomic medicine · 2022Article
- Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.Nature reviews. Cardiology · 2022Review
- RBM20-Related Cardiomyopathy: Current Understanding and Future Options.Journal of clinical medicine · 2021Review
- Variant Spectrum of Formin Homology 2 Domain-Containing 3 Gene in Chinese Patients With Hypertrophic Cardiomyopathy.Journal of the American Heart Association · 2021Article
- Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.Nature genetics · 2021Article
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Abstract
backgroundIncomplete penetrance and variable expression of hypertrophic cardiomyopathy (HCM) is well appreciated. Common genetic polymorphisms variants that may affect HCM penetrance and expression have been predicted but are not well established. METHODS AND
resultsWe performed a case-control genomewide association study to identify common HCM-associated genetic polymorphisms and then asked whether such common variants were more represented in HCM or could explain the heterogeneity of HCM phenotypes. We identified an intronic FHOD3 variant (rs516514) associated with HCM (odds ratio, 2.45; 95% confidence interval, 1.76-3.41; P=1.25×10(-7)) and validated this finding in an independent cohort. Next, we tested FHOD3-V1151I (rs2303510), a nonsynonymous variant in partial linkage disequilibrium with rs516514, and we detected an even stronger association with HCM (P=1.76×10(-9)). Although HCM patients were more likely to carry these, FHOD3 allele subjects homozygous for FHOD3-1151I had similar HCM phenotypes as carriers of the V1151 allele. FHOD3 expression is increased in the setting of HCM, and both alleles of FHOD3-V1151I were detected in HCM myectomy tissue. Previously, FHOD3 was found to be required for formation of the sarcomere, and here we demonstrate that its fly homolog fhos is required for normal adult heart systolic contraction.
conclusionsHere we demonstrate the association of a common nonsynonymous FHOD3 genetic variant with HCM. This discovery further strengthens the potential role of gene mutations and polymorphisms that alter the amino acid sequence of sarcomere proteins and HCM.
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