| dc.contributor.author | Tafadzwa Machipisa, , Chishala Chishala, , Gasnat Shaboodien, Liesl J. Zühlke, Babu Muhamed, Shahiemah Pandie, Jantina de Vries, , Nakita Laing, Alexia Joachim, RN Rezeen Daniels, Mpiko Ntsekhe, Christopher T. Hugo-Hamman, Bernard Gitura,Stephen Ogendo, Peter Lwabi, , Emmy Okello, Albertino Damasceno, Celia Novela, RN, Ana O. Mocumbi, Geoffrey Madeira, John Musuku, Agnes Mtaja, , Ahmed ElSayed, Huda H.M. Alhassan, Fidelia Bode-Thomas, Christopher Yilgwan, Ganiyu Amusa, Esin Nkereuwem, Nicola Mulder, Raj Ramesar, Maia Lesosky, Heather J. Cordell, Michael Chong, Bernard Keavney, BM,, Guillaume Paré, Mark E. Enge | |
| dc.description.abstract | 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 ethnicallymatched 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. | en_US |
