title: Rheumatoid Arthritis: The Stride from Research to Clinical Practice.
abstract: Over 70 different genetic variants with a significant association with rheumatoid arthritis (RA) have been discovered. Anti-citrullination protein antibodies (ACPA)-positive RA variants are more well-defined than their ACPA-negative counterparts. The human leukocyte antigen, HLA-DRB1 locus remains the prime suspect in anti-citrullination protein antibodies (ACPA)-positive RA. Different HLA-DRB1 alleles are linked to RA susceptibility across different ethnicities. With evolving techniques, like genome-wide association studies (GWAS) and single nucleotide polymorphism (SNP) arrays, more non-HLA susceptibility loci have been identified for both types of RA. However, the functional significance of only a handful of these variants is known. Their roles include increasing susceptibility to RA or in determining the speed at which the disease progresses. Additionally, a couple of variations are associated with protection from RA. Defining such clear-cut biological functions can aid in the clinical diagnosis and treatment of RA. Recent research has focused on the implication of microRNAs, with miR-146a widely studied. In addition to disease susceptibility, genetic variations that influence the efficacy and toxicity of anti-RA agents have also been identified. Polymorphisms in the MTHFR gene influence the effectiveness of methotrexate, the first line of therapy in RA. Larger studies are, however, needed to identify potential biomarkers for early disease identification and monitoring disease progression.
authors.affiliation: Department of Applied Bioscience, College of Life and Environmental Science, Konkuk University, Seoul 143-701, Korea. imcim@konkuk.ac.kr.
authors.forename: Ill-Min
authors.initials: IM
authors.lastname: Chung
authors.affiliation: Department of Pathology, University of Otago, Dunedin 9016, New Zealand. sarada.biotech@gmail.com.
authors.forename: Sarada
authors.initials: S
authors.lastname: Ketharnathan
authors.affiliation: Department of Applied Bioscience, College of Life and Environmental Science, Konkuk University, Seoul 143-701, Korea. thiruv30@yahoo.com.
authors.forename: Muthu
authors.initials: M
authors.lastname: Thiruvengadam
authors.affiliation: Department of Applied Bioscience, College of Life and Environmental Science, Konkuk University, Seoul 143-701, Korea. microlabsraj@gmail.com.
authors.forename: Govindasamy
authors.initials: G
authors.lastname: Rajakumar
mesh_terms: D001172:Arthritis, Rheumatoid / Q000175:diagnosis* / Q000209:etiology* / Q000628:therapy; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006680:HLA Antigens / Q000235:genetics / Q000276:immunology; D006801:Humans; D035683:MicroRNAs / Q000235:genetics; D010597:Pharmacogenetics; D057285:Precision Medicine; D057170:Translational Research, Biomedical
chemical_list: D006680:HLA Antigens; D035683:MicroRNAs
keywords: HLA-DRB1; miRNA; pharmacogenetics; rheumatoid arthritis; susceptibility genes