Study of Ugandan Genomes Yields Novel Variants, Health Links
Study of Ugandan Genomes Yields Novel Variants, Health Links

Study of Ugandan Genomes Yields Novel Variants, Health Links

The authors say their results demonstrate the global benefits of studying African genetics.

Shawna Williams
Oct 31, 2019


A project that analyzed the genomes of rural Ugandans uncovered a raft of genetic variants and other findings with implications for human health, researchers report today (October 31) in Cell. Relatively few genomic studies to date have focused on Africans, and the new results demonstrate the value of doing so, the authors say.

“Uganda is a melting pot of different cultures and languages, and we wanted to understand the genetic structure and history of populations within the country,” says coauthor Pontiano Kaleebu, the director of the Uganda Virus Research Institute and of the MRC/UVRI & London School of Hygiene and Tropical Medicine Uganda Research Unit, in a press release.

See “Sequences of African Genomes Highlights Long-Overlooked Diversity

Kaleebu and his colleagues genotyped or sequenced the genomes of more than 6,000 people from villages in southwestern Uganda, and compared the results to data from questionnaires, measurements of height and other parameters, and blood biomarker levels. They also combined the data from that collected in other studies to perform a pan-African genome-wide association study of more than 14,000 subjects.

Among the group’s findings were that a genetic variant found in 22 percent of Africans that is protective against malaria affects the blood levels of a marker called glycated hemoglobin. Glycated hemoglobin levels are used to diagnose diabetes, meaning that diabetes testing may be less effective for some people of African descent, one of the authors tells New Scientist. Other findings were that genetics are less important for determining height in Ugandans than in Europeans—but that Ugandans’ genes have a relatively greater effect on LDL cholesterol levels.

See “Lack of Diversity in Genetic Datasets is Risky for Treating Disease

“This study confirms that genetic causes of disease may be different in Africans and provides opportunities to identify new genes associated with disease that would not be identified in European studies,” coauthor Deepti Gurdasani of Queen Mary's University of London says in the statement. “This kind of research will allow us to identify new targets for therapies that could potentially be useful for all populations.” 

See “Opinion: Greater Diversity Is Needed in Human Genomic Data

Shawna Williams is an associate editor at The Scientist. Email her at or follow her on Twitter @coloradan.