Abstract
Echocardiography has become an indispensable tool for the study of heart performance, improving the monitoring of individuals with cardiac diseases. Diverse genetic factors associated with echocardiographic measures have been previously reported. The impact of several apoptotic genes in heart development identified in experimental models prompted us to assess their potential association with human cardiac function. This study aimed at investigating the possible association of variants of apoptotic genes with echocardiographic traits and to identify new genetic markers associated with cardiac function. Genome wide data from different studies were obtained from public repositories. After quality control and imputation, a meta-analysis of individual association study results was performed. Our results confirmed the role of caspases and other apoptosis related genes with cardiac phenotypes. Moreover, enrichment analysis showed an over-representation of genes, including some apoptotic regulators, associated with Alzheimer’s disease. We further explored this unexpected observation which was confirmed by genetic correlation analyses. Our findings show the association of apoptotic gene variants with echocardiographic indicators of heart function and reveal a novel potential genetic link between echocardiographic measures in healthy populations and cognitive decline later on in life. These findings may have important implications for preventative strategies combating Alzheimer’s disease.
Highlights
Echocardiography has become an indispensable tool for the study of heart performance, improving the monitoring of individuals with cardiac diseases
After imputation and quality control, we obtained about 7 million single nucleotide polymorphisms (SNPs) with minor allele frequency (MAF) > 0.01 that were tested for association with echocardiographic traits at each study
Our data suggest the existence of a set of genes, mainly related to apoptosis/inflammation signalling, whose variants are associated with both cardiac phenotype and Alzheimer’s disease (AD)
Summary
Echocardiography has become an indispensable tool for the study of heart performance, improving the monitoring of individuals with cardiac diseases. Our findings show the association of apoptotic gene variants with echocardiographic indicators of heart function and reveal a novel potential genetic link between echocardiographic measures in healthy populations and cognitive decline later on in life. These findings may have important implications for preventative strategies combating Alzheimer’s disease. ENDOG contributes to the signalling pathways determining myocyte size through the control of reactive oxygen radicals (ROS)[14,15] These facts lead us to hypothesize that caspases and the nucleases ENDOG and TATD play relevant functions in cardiomyocyte proliferation and maturation during development. Following the leading results of this analysis, we further explored the unsuspected genetic relationship between Alzheimer’s disease (AD) and these echocardiographic traits, by estimating their genetic correlation, and identifying common genetic determinants of these conditions
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