Using functional genomics to decipher the impact of polymorphisms in the IL2RA locus and other primary sclerosing cholangitis risk loci (A07)

• Subject Area: Gastroenterology ; Epidemiology and Medical Biometry/Statistics ; Human Genetics
• Term: since 2025
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 530990199

This project aims to decipher the functional role of polymorphisms in autoimmune liver diseases. We will i) test the hypothesis that polymorphisms in the IL2RA susceptibility locus promote PSC by im-pairing Foxp3+ regulatory T cells and by shifting the T-helper cell status towards a pro-inflammatory phenotype; ii) create a comprehensive catalogue for three levels of susceptibility: genome-/exome-wide susceptibility loci, single cell expression quantitative trait loci (sc-eQTL), and protein quantitative trait loci (pQTL). Overall, our long-term aim is to decipher the mechanisms driving autoimmune liver disease and to set the basis for a personalised precision immune modulation.

• DFG Programme: Collaborative Research Centres
• Subproject of: SFB 1700: Immune regulation in the liver: from homeostasis to disease
• Applicant Institution: Universität Hamburg
• Project Heads: Professor David Ellinghaus, Ph.D.; Professor Dr. Samuel Huber