Author/Editor     Frank Bertoncelj, Mojca; Klein, Kerstin; Gay, Steffen
Title     Interplay between genetic and epigenetic mechanisms in rheumatoid arthritis
Type     članek
Vol. and No.     Letnik 9, št. 4
Publication year     2017
Volume     str. 493-504
ISSN     1750-192X - Epigenomics
Language     eng
Abstract     Genetic and environmental factors contribute to the risk for rheumatoid arthritis (RA), with epigenetics serving as a possible interface through which risk factors contribute to RA. High-throughput technologies for interrogating genome and epigenome, and the availability of genetic and epigenetic datasets across a diversity of cell types, enable the identification of candidate causal genetic variants for RA to study their function in core RA processes. To date, RA risk variants were studied in the immune cells but not joint resident cells, for example, synovial fibroblasts. Synovial fibroblasts from different joints are distinct, anatomically specialized cells, defined by joint-specific transcriptomes, epigenomes and phenotypes. Cell type-specific analysis of epigenetic changes, together with genetic fine mapping and interrogation of chromatin 3D interactions may identify new disease relevant pathways, potential therapeutic targets and biomarkers for RA progression or therapy response.
Keywords     kromatin
metilacija DNK
enojni nukleotidni polimorfizem
chromatin
DNA methylation
single nucleotide polymorphism