Novel genetic variants detected thanks to 6,400 Africans

International collaboration collected and investigated genomes of 6,400 individuals from Uganda. They correlated SNPs (single nucleotide polymophirms) and nearly two thousand whole-genome sequences with various phenotypic and health traits.

As a scientist not involved in the work remarks:

We’ve been reading about “missing heritability” for ~20 years. They just found some of it from (…) individuals of African ancestry.

Eric Topol

Substantially high heritability (>0.5), based on Ugandan genomes, was found in cholesterol levels. There were also traits which had higher heritability than known Icelandic and Sardinian populations, namely: total bilirubin, ALT activity, blood pressure, and counts of various blood cells.

Many variants were different than currently known, mainly European SNPs. First author of the study commented:

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.

Deepti Gurdasani