A recent breakthrough study conducted by researchers at the University of Glasgow has found that a common combination of gene mutations, prevalent in about 5% of the Black population in the U.K. and in millions of people worldwide with recent African ancestry, is associated with a range of health conditions and poor health outcomes. The study, titled “Phenome-wide analysis reveals epistatic associations between APOL1 variants and chronic kidney disease and multiple other disorders,” published in eBioMedicine, sheds light on the impact of specific variants in the human gene APOL1 on health.
The two common variants of APOL1, known as G1 and G2, are frequently found in populations with recent African ancestry and are believed to have evolved to protect humans against human African trypanosomiasis, a parasitic disease prevalent in African countries. However, these variants are also known to increase the risk of chronic kidney disease. The new study highlights the broader health associations of these variants, revealing a wide range of health impacts for individuals carrying a specific genetic combination: the presence of both the G1 and G2 variants in the same gene, one on each chromosome.
The researchers found that this particular combination of APOL1 variants was linked to 26 health conditions and outcomes, including an increased likelihood of hospitalization and death from infectious diseases, such as COVID-19. This finding may help explain why individuals of African ancestry faced a disproportionately higher risk of hospitalization or death during the pandemic. Other health conditions and outcomes associated with these gene variants include chronic viral hepatitis, vitamin D deficiency, irritable bowel syndrome (IBS), viral pneumonia, enlarged prostate, acute renal failure, and various other disorders.
To conduct the study, the researchers analyzed genetic data from approximately 7,500 participants in the UK Biobank with recent African ancestry. By examining the APOL1 genes, the team searched for associations between specific variant combinations and a range of health conditions and outcomes.
Dr. Walt Adamson, the first author of the study, expressed the significance of the UK Biobank data, stating that it provided an opportunity to assess the extent of the association between this particular form of APOL1 variation and poor outcomes in various health conditions, including infectious diseases. He also suggested that investigating data from regions such as sub-Saharan Africa, where these variants are more prevalent and infectious diseases are widespread, could yield further associations.
Professor Annette MacLeod, the senior author of the study, highlighted the surprising finding that it is the combination of G1 and G2 variants that appears to be particularly detrimental. Although the reasons behind this association are not yet fully understood, this discovery allows the identification of a subset of individuals within the population who could potentially benefit from more targeted prevention and treatment for a wide range of diseases.
In conclusion, this groundbreaking study emphasizes the significant impact of common gene mutations on various health conditions and outcomes, particularly in individuals with recent African ancestry. The findings provide valuable insights for better understanding and addressing health disparities in affected populations, as well as for developing targeted interventions and treatments.
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1. Source: Coherent Market Insights, Public sources, Desk research
2. We have leveraged AI tools to mine information and compile it
