Genome Wide Meta-Analysis identifies common genetic signatures shared by heart function and Alzheimer's disease

Sci Rep. 2019 Nov 13;9(1):16665. doi: 10.1038/s41598-019-52724-2.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / physiopathology*
  • Female
  • Genetic Loci
  • Genetic Markers*
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study / methods*
  • Heart Diseases / genetics*
  • Heart Diseases / physiopathology*
  • Humans
  • Male
  • Meta-Analysis as Topic
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Young Adult


  • Genetic Markers

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