TY - JOUR
T1 - Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records
AU - Akawi, Nadia
AU - Al Mansoori, Ghadeera
AU - Al Zaabi, Anwar
AU - Badics, Andrea
AU - Al Dhaheri, Noura
AU - Al Shamsi, Aisha
AU - Al Tenaiji, Amal
AU - Alzohily, Bashar
AU - Almesmari, Fatmah S.A.
AU - Al Hammadi, Hamad
AU - Al Dhahouri, Nahid
AU - Irshaid, Manal
AU - Kizhakkedath, Praseetha
AU - Al Shibli, Fatema
AU - Tabouni, Mohammed
AU - Allam, Mushal
AU - Baydoun, Ibrahim
AU - Alblooshi, Hiba
AU - Ali, Bassam R.
AU - Foo, Roger S.
AU - Al Jasmi, Fatma
N1 - Publisher Copyright:
Copyright © 2024 Akawi, Al Mansoori, Al Zaabi, Badics, Al Dhaheri, Al Shamsi, Al Tenaiji, Alzohily, Almesmari, Al Hammadi, Al Dhahouri, Irshaid, Kizhakkedath, Al Shibli, Tabouni, Allam, Baydoun, Alblooshi, Ali, Foo and Al Jasmi.
PY - 2024
Y1 - 2024
N2 - 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.
AB - 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.
KW - United Arab Emirates population
KW - electronic health records
KW - genes
KW - heritable cardiovascular disease
KW - mendelian study cohort
KW - signalling pathways
KW - variants
UR - http://www.scopus.com/inward/record.url?scp=85206574468&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85206574468&partnerID=8YFLogxK
U2 - 10.3389/fmolb.2024.1451457
DO - 10.3389/fmolb.2024.1451457
M3 - Article
AN - SCOPUS:85206574468
SN - 2296-889X
VL - 11
JO - Frontiers in Molecular Biosciences
JF - Frontiers in Molecular Biosciences
M1 - 1451457
ER -