Researchers have conducted the most comprehensive analysis to date linking plasma proteins to genetic variation in individuals with type 2 diabetes from continental Africa, a population group largely underrepresented in medical research. The findings could pave the way for earlier and more accurate type 2 diabetes diagnoses, as well as treatments tailored to African populations.
Closing an equity gap in global health
People with African ancestry are largely underrepresented in medical research. This study, published in Nature Genetics, addresses the need to involve people of African descent in medical research to diagnose, manage and treat conditions – such as type 2 diabetes – more effectively.
Type 2 diabetes (T2D) is a growing health concern in sub-Saharan Africa, but it is often underdiagnosed or misdiagnosed. This is partly because most existing diagnostic markers, such as glycated hemoglobin (HbA1c), were developed in European populations and may be less accurate in African populations due to genetic and biological differences. Until now, there has been a critical lack of large-scale genetic and proteomic studies in continental Africa, leaving major blind spots in the development of effective diagnostic and therapeutic strategies for these communities.
The study was led by Helmholtz Munich in collaboration with Queen Mary University of London, the Technical University of Munich and the Medical Research Council/Uganda Virus Research Institute and London School of Hygiene & Tropical Medicine Uganda Research Unit,
"By focusing on African populations, we are uncovering biological insights that have been missing from global diabetes research," says Dr. Opeyemi Soremekun, first author of the study and postdoc at Helmholtz Munich. "This work shows that a one-size-fits-all approach to diagnosis and treatment is not enough – we need solutions that reflect the diversity of human biology."
Unique protein patterns provide new Insights into disease biology
By combining genomic and plasma proteomic data from a Ugandan cohort, the researchers mapped nearly 400 genetic regions that regulate circulating protein levels – 58 of them previously unknown in African-ancestry individuals. They identified 18 proteins with a likely causal link to T2D, including some that could be targeted by existing drugs. Notably, several proteins (such as apolipoprotein F and lipoprotein lipase) showed unique patterns in the Ugandan participants but not in Europeans, underscoring the importance of population-specific insights. These results not only deepen scientific understanding of T2D biology but also provide a publicly available dataset for researchers worldwide.
"Our analysis identified protein changes and genetic signals that are specific to African ancestry populations," says Prof. Segun Fatumo, Chair of the Precision Healthcare University Research Institute at Queen Mary University of London. "These findings highlight potential new biomarkers for type 2 diabetes and open the door to treatments that are tailored to the biological profiles of these communities."
Expanding research to reflect Africa's diversity
The team plans to expand this work to additional African populations, recognizing that the continent's genetic, cultural, dietary, and environmental diversity means that type 2 diabetes does not follow a single biological pattern. By mapping these differences in detail, the research could help develop representative biomarkers and treatment strategies – ultimately bringing more precise and effective healthcare to millions of people.
"Our findings lay the groundwork for future clinical applications, from improved diagnostic markers to potential therapeutic targets," says Prof. Eleftheria Zeggini, Director of the Institute of Translational Genomics at Helmholtz Munich and Professor at the Technical University of Munich. "By embracing genetic diversity in research, we can move closer to precision medicine that works for all."
