Evidence map›Paper›PMID 36548480›Full record

ArticleCirculation. Genomic and precision medicine2023

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

Tafadzwa Machipisa, Chishala Chishala, Gasnat Shaboodien, Liesl J Zühlke, Babu Muhamed, Shahiemah Pandie, Jantina de Vries, Nakita Laing, Alexia Joachim, Rezeen Daniels and 27 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Circulation. Genomic and precision medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.8field-weighted citation impact, top 26% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 5 citations in OpenAlex.

  1. Acute rheumatic fever and rheumatic heart disease.Nature reviews. Disease primers · 2026
    Review
  2. Review
  3. Article
  4. Review
  5. Review
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

37 authors at 18 institutions in 11 countries.

Tafadzwa MachipisaDepartment of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa (T.M., C.C., G.S., L.J.Z., B.M., S.P.; J.d.V., N.L., A.J., R.D., M.N., M.E.E.).ORCID 0000-0002-4882-9067
Chishala ChishalaDepartment of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa (T.M., C.C., G.S., L.J.Z., B.M., S.P.; J.d.V., N.L., A.J., R.D., M.N., M.E.E.).
Gasnat ShaboodienDepartment of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa (T.M., C.C., G.S., L.J.Z., B.M., S.P.; J.d.V., N.L., A.J., R.D., M.N., M.E.E.).ORCID 0000-0002-4217-1487
Liesl J ZühlkeDepartment of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa (T.M., C.C., G.S., L.J.Z., B.M., S.P.; J.d.V., N.L., A.J., R.D., M.N., M.E.E.).
Babu MuhamedDepartment of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa (T.M., C.C., G.S., L.J.Z., B.M., S.P.; J.d.V., N.L., A.J., R.D., M.N., M.E.E.).
Shahiemah PandieDepartment of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa (T.M., C.C., G.S., L.J.Z., B.M., S.P.; J.d.V., N.L., A.J., R.D., M.N., M.E.E.).ORCID 0000-0002-5136-7182
Jantina de VriesDepartment of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa (T.M., C.C., G.S., L.J.Z., B.M., S.P.; J.d.V., N.L., A.J., R.D., M.N., M.E.E.).
Nakita LaingDepartment of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa (T.M., C.C., G.S., L.J.Z., B.M., S.P.; J.d.V., N.L., A.J., R.D., M.N., M.E.E.).ORCID 0000-0003-2334-7472
Alexia JoachimDepartment of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa (T.M., C.C., G.S., L.J.Z., B.M., S.P.; J.d.V., N.L., A.J., R.D., M.N., M.E.E.).ORCID 0000-0001-5251-5688
Rezeen DanielsDepartment of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa (T.M., C.C., G.S., L.J.Z., B.M., S.P.; J.d.V., N.L., A.J., R.D., M.N., M.E.E.).
Mpiko NtsekheDepartment of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa (T.M., C.C., G.S., L.J.Z., B.M., S.P.; J.d.V., N.L., A.J., R.D., M.N., M.E.E.).ORCID 0000-0002-0851-7675
Christopher T Hugo-HammanRheumatic Heart Disease Clinic, Windhoek Central Hospital, Ministry of Health and Social Services, Windhoek, Republic of Namibia (C.T.H.-H.).
Bernard GituraCardiology Department of Medicine, Kenyatta National Hospital, University of Nairobi, Nairobi, Kenya (B.G.).
Stephen OgendoUganda Heart Inst, Departments of Adult and Pediatric Cardiology, Kampala, Uganda (S.O.).
Peter LwabiSchool of Medicine, Maseno Univ, Kenya (P.L., E.O.).ORCID 0000-0002-2895-3626
Emmy OkelloSchool of Medicine, Maseno Univ, Kenya (P.L., E.O.).
Albertino DamascenoFaculty of Medicine, Eduardo Mondlane Univ/Nucleo de Investigaçao, Departamento de Medicina, Hospital Central de Maputo, Maputo, Mozambique (A.D., C.N.).ORCID 0000-0003-0925-494X
Celia NovelaFaculty of Medicine, Eduardo Mondlane Univ/Nucleo de Investigaçao, Departamento de Medicina, Hospital Central de Maputo, Maputo, Mozambique (A.D., C.N.).
Ana O MocumbiInstituto Nacional de Saúde Ministério da Saúde, Mozambique (A.O.M.).ORCID 0000-0002-9564-2860
Geoffrey MadeiraWHO Mozambique, Maputo, Mozambique (G.M.).
John MusukuUniversity Teaching Hospital, Children's Hospital, University of Zambia, Lusaka, Zambia (J.M., A.M.).
Agnes MtajaUniversity Teaching Hospital, Children's Hospital, University of Zambia, Lusaka, Zambia (J.M., A.M.).
Ahmed ElSayedDepartment of Cardiothoracic Surgery, Alshaab Teaching Hospital, Alazhari Health Research Centre, Alzaiem Alazhari University, Khartoum, Sudan (A.E., H.H.M.A.).
Huda H M AlhassanDepartment of Cardiothoracic Surgery, Alshaab Teaching Hospital, Alazhari Health Research Centre, Alzaiem Alazhari University, Khartoum, Sudan (A.E., H.H.M.A.).
Fidelia Bode-ThomasDeptartments of Pediatrics and Medicine, Jos University Teaching Hospital and University of Jos, Jos, Plateau State, Nigeria (F.B.-T., C.Y., G.A., E.N.).
Christopher YilgwanDeptartments of Pediatrics and Medicine, Jos University Teaching Hospital and University of Jos, Jos, Plateau State, Nigeria (F.B.-T., C.Y., G.A., E.N.).ORCID 0000-0003-4741-7009
Ganiyu AmusaDeptartments of Pediatrics and Medicine, Jos University Teaching Hospital and University of Jos, Jos, Plateau State, Nigeria (F.B.-T., C.Y., G.A., E.N.).ORCID 0000-0002-1388-0639
Esin NkereuwemDeptartments of Pediatrics and Medicine, Jos University Teaching Hospital and University of Jos, Jos, Plateau State, Nigeria (F.B.-T., C.Y., G.A., E.N.).ORCID 0000-0001-9606-9069
Nicola MulderComputational Biology Division, Department of Integrative Biomedical Sciences, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences (N.M.), University of Cape Town, Cape Town, South Africa.
Raj RamesarDepartment of Pathology (R.R.), University of Cape Town, Cape Town, South Africa.ORCID 0000-0001-5688-1634
Maia LesoskyDivision of Epidemiology and Biostatistics, School of Public Health and Family Medicine (M.L.), University of Cape Town, Cape Town, South Africa.ORCID 0000-0002-2026-958X
Heather J CordellPopulation Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK (H.J.C.).ORCID 0000-0002-1879-5572
Michael ChongPopulation Health Research Institute, Hamilton, ON, Canada (T.M., B.M., M.C., G.P.).ORCID 0000-0002-0555-4622
Bernard KeavneyDivision of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, UK (B.K.).ORCID 0000-0001-9573-0812
Guillaume Paré *Population Health Research Institute, Hamilton, ON, Canada (T.M., B.M., M.C., G.P.).ORCID 0000-0002-6795-4760
Mark E Engel *Department of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa (T.M., C.C., G.S., L.J.Z., B.M., S.P.; J.d.V., N.L., A.J., R.D., M.N., M.E.E.).ORCID 0000-0002-1334-8829
RHDGen Network Consortium†
Groote Schuur Hospital · ZAUniversity of Cape Town · ZAAlzaiem Alazhari University · SDEduardo Mondlane University · MZJos University Teaching Hospital · NGMaseno University · KEPopulation Health Research Institute · CAUniversity of Jos · NGCentre for Life · GBInstituto Nacional de Saúde · MZKenyatta National Hospital · KEManchester Academic Health Science Centre · GBMinistry of Health and Social Services · NANational Directorate of Geology · MZSouth African Medical Research Council · ZAUganda Management Institute · UGUniversity of Zambia · ZMUniversity Teaching Hospital · ZM

Funding

British Heart Foundation CH/13/2/30154British Heart Foundation RG/F/21/110050CIHRWellcome Trust 099313
6 · The paper itself

Abstract

backgroundThe 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.

methodsRHDGen 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.

resultsParticipants 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.

conclusionsRHDGen 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.

Indexed as

Atrial FibrillationRheumatic FeverRheumatic Heart DiseaseAdolescentEchocardiographyFemaleGenome-Wide Association StudyHumanscardiovascular diseasesgeneticsinfectionsrheumatic heart disease

Identifiers

PMID36548480
PMCPMC9946164
OpenAlexW4312113941

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.