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Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†

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 d...

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Autores principales: Machipisa, Tafadzwa, Chishala, Chishala, Shaboodien, Gasnat, Zühlke, Liesl J., Muhamed, Babu, Pandie, Shahiemah, de Vries, Jantina, Laing, Nakita, Joachim, Alexia, Daniels, Rezeen, Ntsekhe, Mpiko, Hugo-Hamman, Christopher T., Gitura, Bernard, Ogendo, Stephen, Lwabi, Peter, Okello, Emmy, Damasceno, Albertino, Novela, Celia, Mocumbi, Ana O., Madeira, Geoffrey, Musuku, John, Mtaja, Agnes, ElSayed, Ahmed, Alhassan, Huda H.M., Bode-Thomas, Fidelia, Yilgwan, Christopher, Amusa, Ganiyu, Nkereuwem, Esin, Mulder, Nicola, Ramesar, Raj, Lesosky, Maia, Cordell, Heather J., Chong, Michael, Keavney, Bernard, Paré, Guillaume, Engel, Mark E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9946164/
https://www.ncbi.nlm.nih.gov/pubmed/36548480
http://dx.doi.org/10.1161/CIRCGEN.121.003641
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author Machipisa, Tafadzwa
Chishala, Chishala
Shaboodien, Gasnat
Zühlke, Liesl J.
Muhamed, Babu
Pandie, Shahiemah
de Vries, Jantina
Laing, Nakita
Joachim, Alexia
Daniels, Rezeen
Ntsekhe, Mpiko
Hugo-Hamman, Christopher T.
Gitura, Bernard
Ogendo, Stephen
Lwabi, Peter
Okello, Emmy
Damasceno, Albertino
Novela, Celia
Mocumbi, Ana O.
Madeira, Geoffrey
Musuku, John
Mtaja, Agnes
ElSayed, Ahmed
Alhassan, Huda H.M.
Bode-Thomas, Fidelia
Yilgwan, Christopher
Amusa, Ganiyu
Nkereuwem, Esin
Mulder, Nicola
Ramesar, Raj
Lesosky, Maia
Cordell, Heather J.
Chong, Michael
Keavney, Bernard
Paré, Guillaume
Engel, Mark E.
author_facet Machipisa, Tafadzwa
Chishala, Chishala
Shaboodien, Gasnat
Zühlke, Liesl J.
Muhamed, Babu
Pandie, Shahiemah
de Vries, Jantina
Laing, Nakita
Joachim, Alexia
Daniels, Rezeen
Ntsekhe, Mpiko
Hugo-Hamman, Christopher T.
Gitura, Bernard
Ogendo, Stephen
Lwabi, Peter
Okello, Emmy
Damasceno, Albertino
Novela, Celia
Mocumbi, Ana O.
Madeira, Geoffrey
Musuku, John
Mtaja, Agnes
ElSayed, Ahmed
Alhassan, Huda H.M.
Bode-Thomas, Fidelia
Yilgwan, Christopher
Amusa, Ganiyu
Nkereuwem, Esin
Mulder, Nicola
Ramesar, Raj
Lesosky, Maia
Cordell, Heather J.
Chong, Michael
Keavney, Bernard
Paré, Guillaume
Engel, Mark E.
author_sort Machipisa, Tafadzwa
collection PubMed
description 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.
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spelling pubmed-99461642023-02-23 Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study† Machipisa, Tafadzwa Chishala, Chishala Shaboodien, Gasnat Zühlke, Liesl J. Muhamed, Babu Pandie, Shahiemah de Vries, Jantina Laing, Nakita Joachim, Alexia Daniels, Rezeen Ntsekhe, Mpiko Hugo-Hamman, Christopher T. Gitura, Bernard Ogendo, Stephen Lwabi, Peter Okello, Emmy Damasceno, Albertino Novela, Celia Mocumbi, Ana O. Madeira, Geoffrey Musuku, John Mtaja, Agnes ElSayed, Ahmed Alhassan, Huda H.M. Bode-Thomas, Fidelia Yilgwan, Christopher Amusa, Ganiyu Nkereuwem, Esin Mulder, Nicola Ramesar, Raj Lesosky, Maia Cordell, Heather J. Chong, Michael Keavney, Bernard Paré, Guillaume Engel, Mark E. Circ Genom Precis Med Original Articles 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. Lippincott Williams & Wilkins 2022-12-22 /pmc/articles/PMC9946164/ /pubmed/36548480 http://dx.doi.org/10.1161/CIRCGEN.121.003641 Text en © 2023 The Authors. https://creativecommons.org/licenses/by/4.0/Circulation: Genomic and Precision Medicine is published on behalf of the American Heart Association, Inc., by Wolters Kluwer Health, Inc. This is an open access article under the terms of the Creative Commons Attribution (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution, and reproduction in any medium, provided that the original work is properly cited.
spellingShingle Original Articles
Machipisa, Tafadzwa
Chishala, Chishala
Shaboodien, Gasnat
Zühlke, Liesl J.
Muhamed, Babu
Pandie, Shahiemah
de Vries, Jantina
Laing, Nakita
Joachim, Alexia
Daniels, Rezeen
Ntsekhe, Mpiko
Hugo-Hamman, Christopher T.
Gitura, Bernard
Ogendo, Stephen
Lwabi, Peter
Okello, Emmy
Damasceno, Albertino
Novela, Celia
Mocumbi, Ana O.
Madeira, Geoffrey
Musuku, John
Mtaja, Agnes
ElSayed, Ahmed
Alhassan, Huda H.M.
Bode-Thomas, Fidelia
Yilgwan, Christopher
Amusa, Ganiyu
Nkereuwem, Esin
Mulder, Nicola
Ramesar, Raj
Lesosky, Maia
Cordell, Heather J.
Chong, Michael
Keavney, Bernard
Paré, Guillaume
Engel, Mark E.
Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†
title Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†
title_full Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†
title_fullStr Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†
title_full_unstemmed Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†
title_short Rationale, Design, and the Baseline Characteristics of the RHDGen (The Genetics of Rheumatic Heart Disease) Network Study†
title_sort rationale, design, and the baseline characteristics of the rhdgen (the genetics of rheumatic heart disease) network study†
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9946164/
https://www.ncbi.nlm.nih.gov/pubmed/36548480
http://dx.doi.org/10.1161/CIRCGEN.121.003641
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