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Department of Applied Bioscience, College of Life and Environmental Science, Konkuk University, Seoul 143-701, Korea


Department of Pathology, University of Otago, Dunedin 9016, New Zealand


Author to whom correspondence should be addressed.

Academic Editor: William Chi-shing Cho

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. View Full-Text

Keywords: rheumatoid arthritis; HLA-DRB1; susceptibility genes; pharmacogenetics; miRNA rheumatoid arthritis; HLA-DRB1; susceptibility genes; pharmacogenetics; miRNA

Autor: Ill-Min Chung 1, Sarada Ketharnathan 2, Muthu Thiruvengadam 1 and Govindasamy Rajakumar 1,*

Fuente: http://mdpi.com/


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