Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records

Nadia Akawi, Ghadeera Al Mansoori, Anwar Al Zaabi, Andrea Badics, Noura Al Dhaheri, Aisha Al Shamsi, Amal Al Tenaiji, Bashar Alzohily, Fatmah S.A. Almesmari, Hamad Al Hammadi, Nahid Al Dhahouri, Manal Irshaid, Praseetha Kizhakkedath, Fatema Al Shibli, Mohammed Tabouni, Mushal Allam, Ibrahim Baydoun, Hiba Alblooshi, Bassam R. Ali, Roger S. FooFatma Al Jasmi

Research output: Contribution to journalArticlepeer-review

Abstract

Introduction: This study addresses the rising cardiovascular disease (CVD) rates in the United Arab Emirates (UAE) by investigating the occurrence and impact of genetic variants in CVD-related genes. Methods: We collected all genes linked to heritable CVD from public and diagnostic databases and mapped them to their corresponding biological processes and molecular pathways. We then evaluated the types and burden of genetic variants within these genes in 343 individuals from the Emirati Mendelian Study Cohort and 3,007 national electronic health records. Results: We identified a total of 735 genes associated with heritable CVD, covering a range of cardiovascular conditions. Enrichment analysis revealed key biological processes and pathways, including Apelin, FoxO, and Ras signaling, that are implicated across all forms of heritable CVD. Analysis of a UAE cohort of 3,350 individuals showed a predominance of rare and unique CVD variants specific to the population. The study found a significant burden of pathogenic variants in families with CVD within the Emirati Mendelian cohort and re-assessed the pathogenicity of 693 variants from national health records, leading to the discovery of new CVD-causing variants. Discussion: This study underscores the importance of continuously updating our understanding of genes and pathways related to CVD. It also highlights the significant underrepresentation of the UAE population in public databases and clinical literature on CVD genetics, offering valuable insights that can inform future research and intervention strategies.

Original languageEnglish
Article number1451457
JournalFrontiers in Molecular Biosciences
Volume11
DOIs
Publication statusPublished - 2024

Keywords

  • United Arab Emirates population
  • electronic health records
  • genes
  • heritable cardiovascular disease
  • mendelian study cohort
  • signalling pathways
  • variants

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)

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