The epigenetics of PBC: The link between genetic susceptibility and environment

Using the Icelandic genealogical database to define the familial risk of primary biliary cholangitis

“…Contrary to many other liver diseases, strong associations between PBC and specific environmental factors have not been identified, although smoking, urinary tract infections, and hormonal factors have been reported to affect risk . Epigenetic changes have also been implicated in the pathogenesis of the disease . It therefore seems likely that an interplay between genetic and environmental components is necessary for the development of the disease.…”

“…(35) Epigenetic changes have also been implicated in the pathogenesis of the disease. (36)(37)(38)(39) It therefore seems likely that an interplay between genetic and environmental components is necessary for the development of the disease.…”

Primary Biliary Cholangitis in Medicare Population

“…This prevalence rate appears to vary geographically, and rates are reported to be higher in northern European countries, United Kingdom, and Scandinavian countries . Furthermore, PBC is more common among patients with a first‐degree relative with the disease, reflecting a possible genetic susceptibility . Not surprisingly, patients with PBC often have other autoimmune conditions, including autoimmune thyroid disease and Sjogren syndrome .…”

“…(8)(9)(10)(11)(12) Furthermore, PBC is more common among patients with a first-degree relative with the disease, reflecting a possible genetic susceptibility. (13,14) Not surprisingly, patients with PBC often have other autoimmune conditions, including autoimmune thyroid disease and Sjogren syndrome. (15,16) Although most PBC patients present asymptomatically, some may have fatigue and pruritus.…”

Lessons learned from twins in autoimmune and chronic inflammatory diseases

“…Epigenetic dysregulation results in the overexpression of certain genes in several key immune cells [110]. Our whole epigenome study was designed to identify differences in DNA methylation, copy number variation (CNV) and gene expression in a unique collection consisting of genomic DNA and mRNA from peripheral blood cells of female MZ twins (n ¼ 3 sets) and sisters of similar age (n ¼ 8 pairs) discordant for PBC.…”