South African researchers stumbled upon a breakthrough that links specific Black African features to an increased risk of rheumatic heart disease, with roughly a 0.49 polygenic heritability.
Polygenic heritability or trait is influence by more than one gene. It includes trains such as height or skin color.
The findings come nearly three years after the World Health Organization categorized rheumatic heart disease as a global health priority.
Rheumatic Heart Disease Explained
According to Johns Hopkins Medicine, rheumatic heart disease is a coronary condition where the valves in a person's heart become permanently damaged due to rheumatic fever. The damage may begin shortly after the under-treated or untreated streptococcal infection like strep throat, which stems from a bacterial infection in the throat or scarlet fever. Immune responses to these infections cause inflammation in the body that results in damage to heart valves.
Rheumatic fever, an inflammatory disease affecting various connective tissues in the brain, heart, joints, and skin, causes rheumatic heart disease. Heart valves can be inflamed as a result of immune response to the disease, and over time it can become permanently scarred. This results in the narrowing or leaking of the valve, making it difficult for the heart to function normally and may take several years to develop, resulting in heart failure.
Although rheumatic fever may occur at any age, it often occurs in children aged 5 to 15.
Despite medical advancements in combatting the disease, low- and middle-income countries continue to grapple with rheumatic heart disease. Sub-Saharan Africa, home to roughly 17% of the global population, records 23% of all global rheumatic heart cases in 2017.
In addition, rheumatic heart disease remains the most prevalent cardiovascular disease in Black African women and children.
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Black African Genetics Linked with Increased Rheumatic Heart Disease Risks
The team of researchers led by Tafadzwa Machipisa, Phil, gained insight into the hereditary nature of rheumatic disease by studying various Black African individuals. Although small in size compared to other studies, participants included individuals from eight countries, including Mozambique, Kenya, Namibia, South Africa, Nigeria, Sudan, Zambia, and Uganda, according to HCP Live.
The study, "Association of Novel Locus With Rheumatic Heart Disease in Black African Individuals Findings From the RHDGen study," is published in the journal JAMA Cardiology. The study involved 4,800 participants, including more than 2,540 cases and 2,260 controls, who participated in the genome-wide studies. Prior to the studies, recording rheumatic heart disease susceptibility in four populations acted as inspiration for the study.
The genomic studies conducted were used to measure risk scores of Black African participants. Researchers wrote that a better understanding of the genetic susceptibility of individuals would help devise better measures for prevention, control, and interventions.
Despite limitations faced by researchers, they wrote that they were confident that the team was able to provide the first chip-based heritability estimates of rheumatic heart disease in African samples. They estimate a 0.35 risk in admixed African individuals while 0.49 risks in Black African participants, supporting a critical association of genetics with rheumatic heart disease. susceptibility.
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