Polymorphisms at phase I-metabolizing enzyme and hormone receptor loci influence the response to anti-TNF therapy in rheumatoid arthritis patients

Canet, L; Sánchez-Maldonado, José Manuel; Cáliz, Rafael; Rodríguez-Ramos, Ana; Lupiañez, Carmen Belén; Canhão, Helena; Martínez-Bueno, Manuel; Escudero, Alejandro; Segura-Catena, Juana; Sørensen, Signe Bek; Hetland, Merete Lund; Soto-Pino, María José; Ferrer, Miguel; Delgado, Antonio; Glintborg, Bente; Filipescu, Ileana; Pérez‐Pampín, Eva; González-Utrilla, Alfonso; Nevot, Miguel Ángel López; Conesa‐Zamora, Pablo; Broeder, Alfons A den; Vita, Salvatore De; Jacobsen, S.; Collantes-Estévez, Eduardo; Quartuccio, Luca; Canzian, Federico; Fonseca, João Eurico; Coenen, Marieke J. H.; Andersen, Vibeke; Sainz, Juan

doi:10.1038/s41397-018-0057-x

Cited by 12 publications

(9 citation statements)

References 47 publications

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“…*ACPA was available for 908, 127 and 535 patients in the discovery, DREAM and DANBIO populations, respectively. poses, we genotyped the most promising SNPs associated with RA risk in a cohort of 695 Danish RA patients and 978 healthy controls33 . Clinical data from RA patients were collected through the DANBIO registry (…”

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confidence: 99%

NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium

Sánchez-Maldonado

Martínez-Bueno

Canhão

et al. 2020

Sci Rep

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This study sought to evaluate the association of 28 single nucleotide polymorphisms (SNPs) within NFKB and inflammasome pathway genes with the risk of rheumatoid arthritis (RA) and response to TNF inhibitors (TNFi). We conducted a case-control study in a European population of 1194 RA patients and 1328 healthy controls. The association of potentially interesting markers was validated with data from the DANBIO (695 RA patients and 978 healthy controls) and DREAM (882 RA patients) registries. The meta-analysis of our data with those from the DANBIO registry confirmed that anti-citrullinated protein

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mentioning

confidence: 99%

NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium

Sánchez-Maldonado

Martínez-Bueno

Canhão

et al. 2020

Sci Rep

Self Cite

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“…In addition, specific IL-1RN (variable number of tandem repeats) gene polymorphism was higher in the nonresponders group than in responders to TNFi therapy [155]. Polymorphisms within the steroid hormone related genes including CYP3A4 and CYP2C9 loci correlated with changes in DAS28 after treatment with anti-TNF drugs [156]. In addition, specific haplotype in ESR2 gene was associated with a better response to anti-TNF therapy.…”

Section: The Effect Of Genetic Factors On Bdmards Response In Ra Treatmentmentioning

confidence: 96%

Biologic Drugs for Rheumatoid Arthritis in the Context of Biosimilars, Genetics, Epigenetics and COVID-19 Treatment

Bonek

Roszkowski

Massalska

et al. 2021

Cells

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Rheumatoid arthritis (RA) affects around 1.2% of the adult population. RA is one of the main reasons for work disability and premature retirement, thus substantially increasing social and economic burden. Biological disease-modifying antirheumatic drugs (bDMARDs) were shown to be an effective therapy especially in those rheumatoid arthritis (RA) patients, who did not adequately respond to conventional synthetic DMARD therapy. However, despite the proven efficacy, the high cost of the therapy resulted in limitation of the widespread use and unequal access to the care. The introduction of biosimilars, which are much cheaper relative to original drugs, may facilitate the achievement of the therapy by a much broader spectrum of patients. In this review we present the properties of original biologic agents based on cytokine-targeted (blockers of TNF, IL-6, IL-1, GM-CSF) and cell-targeted therapies (aimed to inhibit T cells and B cells properties) as well as biosimilars used in rheumatology. We also analyze the latest update of bDMARDs’ possible influence on DNA methylation, miRNA expression and histone modification in RA patients, what might be the important factors toward precise and personalized RA treatment. In addition, during the COVID-19 outbreak, we discuss the usage of biologicals in context of effective and safe COVID-19 treatment. Therefore, early diagnosing along with therapeutic intervention based on personalized drugs targeting disease-specific genes is still needed to relieve symptoms and to improve the quality of life of RA patients.

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“…They identified 87 transcripts that were differentially expressed among the responders compared to non-responders. Canet et al, investigated which among 47 single-nucleotide polymorphisms might be associated with TNFi responsiveness using a registry of 1985 TNFi treated patients [60]. They identified a significant correlation with improvement in DAS28 after TNFi with the CYP3A4 and CYP2CP variants.…”

Section: Additional Genetic Based Platformsmentioning

confidence: 99%

Precision Medicine for Rheumatoid Arthritis: The Right Drug for the Right Patient—Companion Diagnostics

2021

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Despite the growing number of biologic and JAK inhibitor therapeutic agents available to treat various systemic autoimmune illnesses, the lack of a validated companion diagnostic (CDx) to accurately predict drug responsiveness for an individual results in many patients being treated for years with expensive, ineffective, or toxic drugs. This review will focus primarily on rheumatoid arthritis (RA) therapeutics where the need is greatest due to poor patient outcomes if the optimum drug is delayed. We will review current FDA-approved biologic and small molecule drugs and why RA patients switch these medications. We will discuss the sampling of various tissues for potential CDx and review early results from studies investigating drug responsiveness utilizing advanced technologies including; multiplex testing of cytokines and proteins, autoantibody profiling, genomic analysis, proteomics, miRNA analysis, and metabolomics. By using these new technologies for CDx the goal is to improve RA patient outcomes and achieve similar successes like those seen in oncology using precision medicine guided therapeutics.

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Polymorphisms at phase I-metabolizing enzyme and hormone receptor loci influence the response to anti-TNF therapy in rheumatoid arthritis patients

Abstract: The original version of this Article contained an error in the spelling of the author Ana Rodríguez-Ramos, which was incorrectly given as Ana Rodríguez Ramos. This has now been corrected in both the PDF and HTML versions of the Article.

Cited by 12 publications

References 47 publications

NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium

NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium

Biologic Drugs for Rheumatoid Arthritis in the Context of Biosimilars, Genetics, Epigenetics and COVID-19 Treatment

Precision Medicine for Rheumatoid Arthritis: The Right Drug for the Right Patient—Companion Diagnostics

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