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Lookup NU author(s): Professor Heather Cordell
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2023 Lippincott Williams and Wilkins. All rights reserved.Background: The genetics of rheumatic heart disease (RHDGen) Network was developed to assist the discovery and validation of genetic variations and biomarkers of risk for rheumatic heart disease (RHD) in continental Africans, as a part of the global fight to control and eradicate rheumatic fever/RHD. Thus, we describe the rationale and design of the RHDGen study, comprising participants from 8 African countries. Methods: RHDGen screened potential participants using echocardiography, thereafter enrolling RHD cases and ethnically-matched controls for whom case characteristics were documented. Biological samples were collected for conducting genetic analyses, including a discovery case-control genome-wide association study (GWAS) and a replication trio family study. Additional biological samples were also collected, and processed, for the measurement of biomarker analytes and the biomarker analyses are underway. Results: Participants were enrolled into RHDGen between December 2012 and March 2018. For GWAS, 2548 RHD cases and 2261 controls (3301 women [69%]; mean age [SD], 37 [16.3] years) were available. RHD cases were predominantly Black (66%), Admixed (24%), and other ethnicities (10%). Among RHD cases, 34% were asymptomatic, 26% had prior valve surgery, and 23% had atrial fibrillation. The trio family replication arm included 116 RHD trio probands and 232 parents. Conclusions: RHDGen presents a rare opportunity to identify relevant patterns of genetic factors and biomarkers in Africans that may be associated with differential RHD risk. Furthermore, the RHDGen Network provides a platform for further work on fully elucidating the causes and mechanisms associated with RHD susceptibility and development.
Author(s): Machipisa T, Chishala C, Shaboodien G, Zuhlke LJ, Muhamed B, Pandie S, De Vries J, Laing N, Joachim A, Daniels R, Ntsekhe M, Hugo-Hamman CT, Gitura B, Ogendo S, Lwabi P, Okello E, Damasceno A, Novela C, Mocumbi AO, Madeira G, Musuku J, Mtaja A, Elsayed A, Alhassan HHM, Bode-Thomas F, Yilgwan C, Amusa G, Nkereuwem E, Mulder N, Ramesar R, Lesosky M, Cordell HJ, Chong M, Keavney B, Pare G, Engel ME
Publication type: Article
Publication status: Published
Journal: Circulation: Genomic and Precision Medicine
Year: 2023
Volume: 16
Issue: 1
Print publication date: 01/02/2023
Online publication date: 22/12/2022
Acceptance date: 30/08/2022
Date deposited: 07/03/2023
ISSN (electronic): 2574-8300
Publisher: Lippincott Williams and Wilkins
URL: https://doi.org/10.1161/CIRCGEN.121.003641
DOI: 10.1161/CIRCGEN.121.003641
PubMed id: 36548480
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