Investigating polygenic risk for immune-mediated disease in a sporadic primary immunodeficiency cohort.

Study code

Lead researcher
Hannah Huang

Study type
Data only

Institution or company
University of Cambridge

Researcher type

Speciality area
Genomics and Rare Diseases


We recently carried out a genetic study of antibody deficiency associated primary immune deficiency (AD-PID), that supported previous evidence for a role for common genetic variants in modulating disease risk. Across the whole genome we found that these common variants overlapped with other immune-mediated diseases (IMD) more than we would expect by chance. Building on these observations this project will examine whether polygenic risk scores of IMD are useful in gaining a further understanding of the genetic architecture of PID, as this might shed light on underlying disease pathogenesis.