rs10243436 - STAG3L4 - MTATP6P21

Magnitude 2.8 · 1 study on file

Reported associations

• Association of Novel Locus With Rheumatic Heart Disease in Black African Individuals: Findings From the RHDGen Study. - JAMA cardiology (2022) · Machipisa T, Chong M, Muhamed B, Chishala C, Shaboodien G, 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, Elhassan HHM, Bode-Thomas F, Okeahialam BN, Zühlke LJ, Mulder N, Ramesar R, Lesosky M, Parks T, Cordell HJ, Keavney B, Engel ME, Paré G · PubMed 34106200

  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

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