Association of Novel Locus With Rheumatic Heart Disease in Black African Individuals: Findings From the RHDGen Study.

JAMA Cardiology
Tafadzwa MachipisaGuillaume Paré

Abstract

Rheumatic heart disease (RHD), a sequela of rheumatic fever characterized by permanent heart valve damage, is the leading cause of cardiac surgery in Africa. However, its pathophysiologic characteristics and genetics are poorly understood. Understanding genetic susceptibility may aid in prevention, control, and interventions to eliminate RHD. To identify common genetic loci associated with RHD susceptibility in Black African individuals. This multicenter case-control genome-wide association study (GWAS), the Genetics of Rheumatic Heart Disease, examined more than 7 million genotyped and imputed single-nucleotide variations. The 4809 GWAS participants and 116 independent trio families were enrolled from 8 African countries between December 31, 2012, and March 31, 2018. All GWAS participants and trio probands were screened by use of echocardiography. Data analyses took place from May 15, 2017, until March 14, 2021. Genetic associations with RHD. This study included 4809 African participants (2548 RHD cases and 2261 controls; 3301 women [69%]; mean [SD] age, 36.5 [16.3] years). The GWAS identified a single RHD risk locus, 11q24.1 (rs1219406 [odds ratio, 1.65; 95% CI, 1.48-1.82; P = 4.36 × 10-8]), which reached genome-wide signific...Continue Reading

References

Jul 20, 2007·Scandinavian Journal of Immunology·L GuilhermeJ Kalil
Feb 11, 2009·Circulation·Penelope A BryantNigel Curtis
Jan 20, 2010·Nature Reviews. Genetics·Yik-Ying TeoDominic P Kwiatkowski
Jul 17, 2010·Bioinformatics·Randall J PruimCristen J Willer
Dec 21, 2010·American Journal of Human Genetics·Jian YangPeter M Visscher
Oct 30, 2012·Nature Genetics·UNKNOWN Wellcome Trust Case Control ConsortiumPeter Donnelly
Apr 3, 2013·Nature Reviews. Cardiology·Bo RemenyiUNKNOWN World Heart Federation
May 30, 2013·Nature Genetics·UNKNOWN GTEx Consortium
Apr 18, 2015·PLoS Computational Biology·Christiaan A de LeeuwDanielle Posthuma
Dec 15, 2015·Current Epidemiology Reports·Brion S Maher
Apr 15, 2016·EBioMedicine·Daniel M HuckChris T Longenecker
May 18, 2016·Nature Reviews. Disease Primers·Jonathan R CarapetisLiesl Zühlke
Aug 23, 2016·Nature Genetics·Shane McCarthyUNKNOWN Haplotype Reference Consortium
Nov 22, 2016·Heart Views : the Official Journal of the Gulf Heart Association·Rachel Hajar
Dec 3, 2016·Nucleic Acids Research·Jacqueline MacArthurHelen Parkinson
Dec 3, 2016·Cardiovascular Diagnosis and Therapy·Koffi Herve Yangni-AngateYves Tanauh
Feb 2, 2017·Pediatric Rheumatology Online Journal·Maheshkumar PoomarimuthuJayalakshmi Mariakuttikan
Mar 13, 2017·Current Treatment Options in Cardiovascular Medicine·Liesl J ZühlkeJonathan Carapetis
May 12, 2017·Nature Communications·Tom ParksUNKNOWN Pacific Islands Rheumatic Heart Disease Genetics Network
Aug 24, 2017·The New England Journal of Medicine·David A WatkinsGregory A Roth
Dec 14, 2017·Nature Communications·Ananyo ChoudhuryMichael S Pepper
Oct 24, 2018·Nature Genetics·Oriol Canela-XandriAlbert Tenesa
Dec 24, 2018·European Heart Journal·Alastair White
Feb 2, 2019·Circulation. Cardiovascular Imaging·Maria Carmo P NunesAndrea Z Beaton
Feb 26, 2019·Frontiers in Genetics·Haiko SchurzMarlo Möller
May 31, 2019·International Journal of Environmental Research and Public Health·Bach Xuan TranRoger C M Ho
Jun 30, 2019·Genome Biology·Serena Tucci, Joshua M Akey
Jul 16, 2019·GigaScience·Shing Wan Choi, Paul F O'Reilly
Aug 21, 2019·Nature Genetics·Kyoko WatanabeDanielle Posthuma
Sep 15, 2019·Nature Reviews. Cardiology·Babu MuhamedKaren Sliwa
Feb 23, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Babu MuhamedMark E Engel
Mar 30, 2020·American Journal of Human Genetics·Lulu ShangXiang Zhou

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cardiology Journals

Discover the latest cardiology research in this collection of the top cardiology journals.