Sub-Saharan Africa genomics study gives clues about disease

January / February 2015 | Volume 14, Issue 1

Clues about medical conditions in sub-Saharan Africa, from hypertension to sickle cell anemia to many other diseases, recently came to light in the first study to comprehensively assess genomic diversity across the region. An international team that included NIH researchers participated in this project.

Close up of gloved hands using pipette to store a sample

Photo by Maggie Bartlett, NHGRI

The team characterized the genomes of about 1,800 people from 18 different ethno-linguistic groups and revealed about 30 million single nucleotide polymorphisms or DNA variations, about a quarter of them new. The study, part of the African Genome Variation Project that is building genomic expertise in Africa, has laid the groundwork for further medical genetic studies of people with sub-Saharan African ancestry, the authors reported in the journal Nature.

"The rich genomic diversity in sub-Saharan African populations can offer new insights about disease susceptibility that could easily be overlooked using less-tailored analyses," said Dr. Dan Kastner, scientific director of the NIH’s National Human Genome Research Institute. "This is an important study that demonstrates how a one-size-fits-all approach is not always best when it comes to population genomics."

Among the findings was evidence of the influence of other peoples on African DNA. Integral to understanding genomic diseases is tracking population movements over time and deciphering data to show how genomes are shaped by the environment, climate and pathogens, the scientists wrote.

Researchers can use the study findings to help design a pan-African genotype test to detect common genetic variation across Africa with more precision than existing arrays designed for Europeans and Asians. "We can have a very good, inexpensive array that can be used for future genome-wide association studies," said Dr. Fasil Tekola Ayele, co-lead author and NIH researcher. "Having this array would aid African researchers with ongoing genomic studies."

All data assembled will be freely available to researchers and deposited in the European Genome-phenome Archive and the Pan African Bioinformatics Network for H3Africa (H3ABioNet).

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