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Approved research

Genetic Studies of Inflammatory and Immune-Mediated Traits

Principal Investigator: Dr Hae Kyung Im
Approved Research ID: 44300
Approval date: January 28th 2019

Lay summary

Many common diseases have underlying inflammatory components, yet they present as distinct conditions and different trajectories with respect to age of onset, clinical course, and target tissues. Genetic studies of this broad spectrum of diseases have revealed both shared and distinct genetic loci associated with risk. In some cases, the alleles at shared loci have opposite effects on disease risk. As an example, the HLA locus is among the most significant loci associated with both autoimmune diseases and asthma, yet it is unknown whether these associations are due to shared or distinct risk alleles or genes or whether these associations are due to differences in gene expression levels (i.e., eQTLs) or functional differences due to variation in the coding regions of these genes. Overall, it is not known why risk loci are shared among so many diseases with very different clinical presentations. We propose to address these questions by focusing on a broad spectrum of inflammatory diseases in the UK Biobank repository. These analyses, which should take about one year to complete, will provide novel insights into potential genetic mechanisms for these important groups of diseases and the distinctions that lead to distinct clinical presentations of shared risk loci.