Association of a novel gene locus with rheumatic heart disease in black Africans

doi: 10.1001 / jamacardio.2021.1627

Commentary

This study investigated the association between susceptibility to rheumatic heart disease (RHD) and genetics in Africans.

Findings showed that in 4809 Africans, one genetic risk locus at 11q24.1 (rs1219406) was associated with RHD with genome-wide significance in black Africans, but not in other groups.

With nominal importance. the polygenic heritability of RHD is estimated to be 0.49 in Africans. Therefore, the results of this study suggest that there is an important polygene component to RHD risk in Africans, and emphasized the genetic similarities between African-only genetic traits and those of non-Africans.

Rheumatic heart disease (RHD), a sequelae of rheumatic fever characterized by chronic heart valve damage, is considered a major cardiac surgery in Africa. However, the pathophysiological characteristics and genetics of the disease are not well understood, which is why this study was conducted. This study replicated an association previously reported in Pacific Islander individuals (rs11846409) at the immunoglobulin heavy chain locus in a meta-analysis of blacks and mixed Africans. (Odds ratio, 1.16; 95% CI, 1.06-1.27; P = 1.19 × 10-3)

However, the association reported in HLA (rs9272622) Aboriginal Australians could not be replicated, and an over-transmission of polygene risk scores from unaffected parents to affected originators was observed to support the known polygene architecture of RHD. (Polygene transmission disequilibrium test mean [SE], 0.27 [0.16] SD; P = .04996)