SteatoSITE: an integrated gene-to-patient Data Commons for NAFLD research

A key challenge in non-alcoholic fatty liver disease, NAFLD, is the identification and characterisation of patients who are at greatest risk of progression to non-alcoholic steatohepatitis (NASH), cirrhosis, or clinical outcomes. Only those individuals with NASH or fibrosis have increased mortality, and yet we know little about the progression of NAFLD to NASH, particularly at a genetic level and why some patients progress where others do not. By incorporating data from clinical records, along with imaging, pathology, and RNASeq data, we will build up a data set which can be searched for information on changes occurring at different stages of the disease, and molecular features specific to those who through their clinical records are known to progress. The database can also be used to find or validate potential biomarkers, and pathways to target therapeutically, accelerating development of strategies for identification and treatment of those individuals likely to have adverse outcomes from NAFLD. By drawing on patients from Scotland, with its stable population, and unified health care system, and utilising the data already in existence, we can rapidly generate a significant resource without waiting for prospective recruitment. The database will include curated pathology analyses and clinical health records of 1000 patients with suspected NAFLD/NASH, along with generated transcriptomic data. Pathology and RNASeq data derived from 100 individuals who have no clinical history of NAFLD/NASH will also be included.