A new study introduces the South African Blood Regulatory (SABR) resource, a functional genomics dataset derived from >600 individuals from three South Eastern Bantu-speaking populations (Pedi/Bapedi, Tsonga, Zulu). The project integrates whole-genome sequencing and blood transcriptome data to map regulatory variation (expression QTLs / splice QTLs / cell-type interaction QTLs) for 40 blood-cell traits. One major finding: many regulatory variants are unique to individuals of African ancestry, and a substantial fraction are entirely absent in non-African populations.
Compared to the widely used GTEx project (which is heavily biased toward European ancestry), SABR detects more regulatory variants per gene—even though the sample size is smaller. The team also utilizes GWAS summary statistics from African-ancestry participants in the Pan-UK Biobank to demonstrate that SABR enhances the interpretation of genetic associations, specifically identifying putative causal genes and mechanisms linked to blood-related traits and disease risks that would otherwise be more difficult to discern.
SABR’s analysis connects changes in blood cell subtype levels with diseases like HIV, obesity, hypertension, asthma, and the effects of smoking. Several variants that influence disease-relevant cell types or levels are common in SABR but rare or unobserved elsewhere. The full SABR summary statistics are being made publicly available to support researchers.
Read the full article here