Document Detail


Genetics and epigenetics of rheumatoid arthritis.
MedLine Citation:
PMID:  23381558     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Investigators have made key advances in rheumatoid arthritis (RA) genetics in the past 10 years. Although genetic studies have had limited influence on clinical practice and drug discovery, they are currently generating testable hypotheses to explain disease pathogenesis. Firstly, we review here the major advances in identifying RA genetic susceptibility markers both within and outside of the MHC. Understanding how genetic variants translate into pathogenic mechanisms and ultimately into phenotypes remains a mystery for most of the polymorphisms that confer susceptibility to RA, but functional data are emerging. Interplay between environmental and genetic factors is poorly understood and in need of further investigation. Secondly, we review current knowledge of the role of epigenetics in RA susceptibility. Differences in the epigenome could represent one of the ways in which environmental exposures translate into phenotypic outcomes. The best understood epigenetic phenomena include post-translational histone modifications and DNA methylation events, both of which have critical roles in gene regulation. Epigenetic studies in RA represent a new area of research with the potential to answer unsolved questions.
Authors:
Sebastien Viatte; Darren Plant; Soumya Raychaudhuri
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review     Date:  2013-02-05
Journal Detail:
Title:  Nature reviews. Rheumatology     Volume:  9     ISSN:  1759-4804     ISO Abbreviation:  Nat Rev Rheumatol     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-03-04     Completed Date:  2013-08-20     Revised Date:  2014-03-06    
Medline Journal Info:
Nlm Unique ID:  101500080     Medline TA:  Nat Rev Rheumatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  141-53     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Alleles
Arthritis, Rheumatoid / genetics*
DNA Methylation
Epigenomics
Genetic Linkage
Genetic Predisposition to Disease*
Genetic Variation
Genome-Wide Association Study
Genotype
Humans
Hydrolases / genetics
Major Histocompatibility Complex / genetics
Phenotype
Polymorphism, Single Nucleotide
Protein Processing, Post-Translational
Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics
Grant Support
ID/Acronym/Agency:
17552//Arthritis Research UK; 17552//Arthritis Research UK; 1R01AR062886/AR/NIAMS NIH HHS; 5K08AR055688/AR/NIAMS NIH HHS; K08 AR055688/AR/NIAMS NIH HHS; R01 AR062886/AR/NIAMS NIH HHS
Chemical
Reg. No./Substance:
EC 3.-/Hydrolases; EC 3.1.3.48/PTPN22 protein, human; EC 3.1.3.48/Protein Tyrosine Phosphatase, Non-Receptor Type 22; EC 3.5.3.15/peptidylarginine deiminase type IV
Comments/Corrections

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