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

TitleGenome Wide Meta-Analysis identifies common genetic signatures shared by heart function and Alzheimer's disease.
Publication TypeJournal Article
Year of Publication2019
AuthorsSáez, ME, González-Pérez, A, Hernández-Olasagarre, B, Beà, A, Moreno-Grau, S, de Rojas, I, Monté-Rubio, G, Orellana, A, Valero, S, Comella, JX, Sanchís, D, Ruiz, A
JournalSci Rep
Volume9
Issue1
Pagination16665
Date Published2019 Nov 13
ISSN2045-2322
Abstract<p>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.</p>
DOI10.1038/s41598-019-52724-2
Alternate JournalSci Rep
PubMed ID31723151
PubMed Central IDPMC6853976
Grant ListHHSN268201500003C / HL / NHLBI NIH HHS / United States
U01 AG046152 / AG / NIA NIH HHS / United States
N01HC95160 / HL / NHLBI NIH HHS / United States
N01HC95163 / HL / NHLBI NIH HHS / United States
U01 HL080295 / HL / NHLBI NIH HHS / United States
HHSN268201500001C / HL / NHLBI NIH HHS / United States
UL1 TR001079 / TR / NCATS NIH HHS / United States
P50 AG016574 / AG / NIA NIH HHS / United States
N01HC48049 / HL / NHLBI NIH HHS / United States
U01 AG032984 / AG / NIA NIH HHS / United States
R01 AG030146 / AG / NIA NIH HHS / United States
HHSN268200800007C / HL / NHLBI NIH HHS / United States
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N01 HC015103 / HC / NHLBI NIH HHS / United States
N01HC95169 / HL / NHLBI NIH HHS / United States
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N01 HC085085 / HC / NHLBI NIH HHS / United States
R01 AG017917 / AG / NIA NIH HHS / United States
N01HC95164 / HL / NHLBI NIH HHS / United States
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HHSN268201200036C / HL / NHLBI NIH HHS / United States
P30 AG010161 / AG / NIA NIH HHS / United States
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R01 NS080820 / NS / NINDS NIH HHS / United States
N01HC95159 / HL / NHLBI NIH HHS / United States
HHSN268201500001I / HL / NHLBI NIH HHS / United States
N01HC95161 / HL / NHLBI NIH HHS / United States
UL1 TR001420 / TR / NCATS NIH HHS / United States
N01HC65226 / HL / NHLBI NIH HHS / United States
U01 AG046139 / AG / NIA NIH HHS / United States
N01 HC085084 / HC / NHLBI NIH HHS / United States
N01HC48050 / HL / NHLBI NIH HHS / United States
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N01HC25195 / HL / NHLBI NIH HHS / United States
P01 AG003949 / AG / NIA NIH HHS / United States
UL1 TR000040 / TR / NCATS NIH HHS / United States
P30 AG019610 / AG / NIA NIH HHS / United States
P50 AG025711 / AG / NIA NIH HHS / United States
N01HC85079 / HL / NHLBI NIH HHS / United States
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N01HC85081 / HL / NHLBI NIH HHS / United States
ePub date: 
19/11