Related Experiment Video
Updated: Jun 12, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
A comprehensive genetic study on left atrium size in Caribbean Hispanics identifies potential candidate genes in
Liyong Wang1, Marco R Di Tullio, Ashley Beecham
1John T. McDonald Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
Background:
Left atrial (LA) enlargement is associated with cardiovascular disease and stroke. Genetic factors contributing to the LA dimension are poorly understood. We sought to map susceptibility genes for LA size in a large Dominican family data set and an independent population-based sample from the Northern Manhattan Study.
Methods And Results:
One hundred Dominican families comprising 1350 individuals were studied to estimate heritability and map quantitative trait loci for LA size using variance components analysis. LA dimension was measured by transthoracic echocardiography. A polygenic covariate screening was used to identify significant covariates. LA size had a moderate estimate of heritability (h(2)=0.42) after adjusting for significant covariates. Linkage analysis revealed suggestive evidence on chromosome 10p19 (D10S1423, MLOD=2.00) and 17p10 (D17S974, MLOD=2.05). Ordered subset analysis found significantly enhanced (P<0.05 for increase of LOD score) evidence for linkage at 17p10 (MLOD=2.9) in families with lower LDL level. Single nucleotide polymophisms (n=2233)were used to perform a peak-wide association mapping across 17p10 in 825 NOMAS individuals. Evidence for association were found in NTN1, MYH10, COX10, and MYOCD genes (P=0.00005 to 0.005).
Conclusions:
Using nonbiased genome-wide linkage followed by peak-wide association analysis, we identified several possible susceptibility genes affecting LA size. Among them, MYOCD has been shown to serve as a key transducer of hypertrophic signals in cardiomyocytes. Our data support that polymorphisms in MYOCD modify LA size.
Related Concept Videos
Pharmacogenomics: Identification of New Drug Targets
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Polygenic Traits
Polygenic Traits
