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  • Functional mutation, splice, distribution, and divergence analysis of impactful genes associated with heart failure and other cardiovascular diseases
Title: Functional mutation, splice, distribution, and divergence analysis of impactful genes associated with heart failure and other cardiovascular diseases
Abstract Cardiovascular disease (CVD) is caused by a multitude of complex and largely heritable conditions. Identifying key genes and understanding their susceptibility to CVD in the human genome can assist in early diagnosis and personalized treatment of the relevant patients. Heart failure (HF) is among those CVD phenotypes that has a high rate of mortality. In this study, we investigated genes primarily associated with HF and other CVDs. Achieving the goals of this study, we built a cohort of thirty-five consented patients, and sequenced their serum-based samples. We have generated and processed whole genome sequence (WGS) data, and performed functional mutation, splice, variant distribution, and divergence analysis to understand the relationships between each mutation type and its impact. Our variant and prevalence analysis foundFLNA,CST3,LGALS3, andHBA1linked to many enrichment pathways. Functional mutation analysis uncoveredACE,MME,LGALS3,NR3C2,PIK3C2A,CALD1,TEK, andTRPV1to be notable and potentially significant genes. We discovered intron, 5ʹ Flank, 3ʹ UTR, and 3ʹ Flank mutations to be the most common among HF and other CVD genes. Missense mutations were less common among HF and other CVD genes but had more of a functional impact. We reportedHBA1,FADD,NPPC,ADRB2,ADBR1,MYH6, andPLNto be consequential based on our divergence analysis.  more » « less
Award ID(s):
1909824
PAR ID:
10570125
Author(s) / Creator(s):
; ; ; ; ;
Publisher / Repository:
Nature Portfolio
Date Published:
Journal Name:
Scientific Reports
Volume:
13
Issue:
1
ISSN:
2045-2322
Format(s):
Medium: X
Sponsoring Org:
National Science Foundation
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