Genetic and clinical markers for predicting treatment responsiveness in rheumatoid arthritis

Wu, Xinyu; Sheng, Xiaobao; Sheng, Rong; Lu, Huiqi; Xu, Huji

doi:10.1007/s11684-018-0659-3

Cited by 9 publications

(4 citation statements)

References 56 publications

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“…According to the other meta-analyses, more than 20 SNPs associated with the targeted anti-TNF therapy response in patients with RA could be identified in the genes involved in T-cell functioning, NFκB and TNFα signalling pathways, as well as in CTCN5 , TEC , PTPRC , FCGR2A , NFKBIB , FCGR2A , IRAK325 , and other genes [ 85 ]. A recently published review summarised data on various polymorphisms of 12 genes, best studied as predictive factors for the response to RA drug therapy: methotrexate (HLA-G, MTHFR, ABCB1, TNFA, TYMS), leflunomide (CYP1A2, CYP2C19), etanercept (IL10, TNFA ), infliximab (TNFRSF1B, TNFA, FCGR2A/3A), and other drugs [ 83 ]. In other words, today, it is possible to choose about 10–15 genes, the polymorphisms of which can serve as a prognostic criterion for Caucasians in RA therapy.…”

Section: Genetic Predictors Of Response To Rheumatoid Arthritis Drmentioning

confidence: 99%

Genetic Polymorphisms Associated with Rheumatoid Arthritis Development and Antirheumatic Therapy Response

Mikhaylenko

Немцова

Bure

et al. 2020

IJMS

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Rheumatoid arthritis (RA) is the most common inflammatory arthropathy worldwide. Possible manifestations of RA can be represented by a wide variability of symptoms, clinical forms, and course options. This multifactorial disease is triggered by a genetic predisposition and environmental factors. Both clinical and genealogical studies have demonstrated disease case accumulation in families. Revealing the impact of candidate gene missense variants on the disease course elucidates understanding of RA molecular pathogenesis. A multivariate genomewide association study (GWAS) based analysis identified the genes and signalling pathways involved in the pathogenesis of the disease. However, these identified RA candidate gene variants only explain 30% of familial disease cases. The genetic causes for a significant proportion of familial RA have not been determined until now. Therefore, it is important to identify RA risk groups in different populations, as well as the possible prognostic value of some genetic variants for disease development, progression, and treatment. Our review has two purposes. First, to summarise the data on RA candidate genes and the increased disease risk associated with these alleles in various populations. Second, to describe how the genetic variants can be used in the selection of drugs for the treatment of RA.

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Section: Genetic Predictors Of Response To Rheumatoid Arthritis Drmentioning

confidence: 99%

Genetic Polymorphisms Associated with Rheumatoid Arthritis Development and Antirheumatic Therapy Response

Mikhaylenko

Немцова

Bure

et al. 2020

IJMS

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“…Although the causal relationship between these "risk single nucleotide polymorphisms (SNPs)", genomic coordinates, and the final trait "disease" is robust, the whole picture of the relationship between genomic variation and treatment responsiveness has not been revealed. Several studies have reported gene polymorphisms involved in treatment responsiveness to specific drugs (e.g., steroids [15], methotrexate [16,17] TNF-α inhibitors [18,19], and IL-6 receptor inhibitors [20][21][22][23]), and these findings are awaiting further verification.…”

Section: Genome Epigenome and Gene Expression Signaturesmentioning

confidence: 99%

Title Current Status of the Search for Biomarkers for Optimal Therapeutic Drug Selection for Patients with Rheumatoid Arthritis

Tsuchiya

Fujio

2021

IJMS

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Rheumatoid arthritis (RA) is an autoimmune disease characterized by destructive synovitis. It is significantly associated with disability, impaired quality of life, and premature mortality. Recently, the development of biological agents (including tumor necrosis factor-α and interleukin-6 receptor inhibitors) and Janus kinase inhibitors have advanced the treatment of RA; however, it is still difficult to predict which drug will be effective for each patient. To break away from the current therapeutic approaches that could be described as a “lottery,” there is an urgent need to establish biomarkers that stratify patients in terms of expected therapeutic responsiveness. This review deals with recent progress from multi-faceted analyses of the synovial tissue in RA, which is now bringing new insights into diverse features at both the cellular and molecular levels and their potential links with particular clinical phenotypes.

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“…Genetic variations in cytokine genes may affect cytokine gene transcription and secretion, modulating cardiovascular disease development risk 15 . In addition, these promoter SNPs are thought to contribute to treatment responses by modifying TNF gene expression 16 . Identifying pharmacogenetic markers, enabling treatment only for those patients who will respond without the risk of unwanted effects, would considerably improve treatment efficacy and reduce expenses 17 .…”

Section: Introductionmentioning

confidence: 99%

Association between polymorphisms within the gene coding for tumor necrosis factor (TNF)-alpha with outcomes of treatment in a sample of Iraqi patients with ankylosing spondylitis taking etanercept: an observational study

Khudhur

Saleh²,

Alosami³

et al. 2022

F1000Res

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Background: Ankylosing spondylitis (AS) is a progressive, chronic inflammatory illness with an unclear etiology that explicitly targets the vertebral column, peripheral joints, and extraarticular tissues. The purpose of this research was to investigate if the existence of single nucleotide polymorphisms (SNPs) in the promoter region of the tumor necrosis factor-alpha (TNF-α) gene at positions -1031T/C (rs199964), -857C/T (rs1799724) and -806C/T (rs4248158) in a sample of Iraqi AS patients could influence the patients' outcomes with etanercept. Methods: Sixty patients with established AS receiving only etanercept were selected to enroll in this study, with a mean age of 40.75±8.67 years; 51 patients were male. Patients were classed as "responders" if they obtained a Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) 50 clinical response and as "non-responders" if they did not achieve a BASDAI 50 clinical improvement after at least six months of treatment. After polymerase chain reaction (PCR) product amplification of the purified blood DNA, the promoter region of TNF-α gene SNPs was established by Sanger sequencing. Results: This research found a significant difference in the TT genotype of rs1799964, P = 0.02, in the responder group, in contrast to the TC genotype of rs1799964, which was significantly more frequent in the non-responder group, P = 0.01. The wild TT genotype of rs1799964 seemed to enhance the probability of being a responder. Nevertheless, the heterozygote TC genotype of rs1799964 showed a negative and significant correlation for responsiveness to etanercept. Conclusion: The TT genotype of rs1799964 is associated with a higher likelihood of responding to ETN, suggesting that it is a valuable diagnostic for predicting response in Iraqi AS patients.

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Genetic and clinical markers for predicting treatment responsiveness in rheumatoid arthritis

Cited by 9 publications

References 56 publications

Genetic Polymorphisms Associated with Rheumatoid Arthritis Development and Antirheumatic Therapy Response

Genetic Polymorphisms Associated with Rheumatoid Arthritis Development and Antirheumatic Therapy Response

Title Current Status of the Search for Biomarkers for Optimal Therapeutic Drug Selection for Patients with Rheumatoid Arthritis

Association between polymorphisms within the gene coding for tumor necrosis factor (TNF)-alpha with outcomes of treatment in a sample of Iraqi patients with ankylosing spondylitis taking etanercept: an observational study

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