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However, identifying causative variants and genes and determining their effects on liver cells and their immunological microenvironment is far from trivial. Polygenic risk scores (PRSs) based on current genome-wide data have limited potential to predict individual disease risk. Interestingly, results of mediated expression score regression analysis provide evidence that a substantial portion of gene expression at susceptibility loci is mediated by genetic risk variants, in contrast to many other complex diseases. Genome- and transcriptome-wide comparisons between AIH, PBC, and PSC could help to better delineate the shared inherited component of autoimmune liver diseases (AILDs), and statistical fine-mapping, chromosome X-wide association testing, and genome-wide in silico drug screening approaches recently applied to GWMA data from PBC could potentially be successfully applied to AIH and PSC. Initial successes through single-cell RNA sequencing (scRNA-seq) experiments in PBC and PSC now raise high hopes for understanding the impact of genetic risk variants in the context of liver-resident immune cells and liver cell subpopulations, and for bridging the gap between genetics and disease.<\/jats:p>","DOI":"10.1007\/s00281-022-00950-8","type":"journal-article","created":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T19:02:31Z","timestamp":1654110151000},"page":"397-410","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["How genetic risk contributes to autoimmune liver disease"],"prefix":"10.1007","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4332-6110","authenticated-orcid":false,"given":"David","family":"Ellinghaus","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,6,1]]},"reference":[{"issue":"3","key":"950_CR1","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1016\/S1089-3261(02)00021-1","volume":"6","author":"KM Boberg","year":"2002","unstructured":"Boberg KM (2002) Prevalence and epidemiology of autoimmune hepatitis. 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