A multilocus genetic study evidences the association of autoimmune-related genes with Psoriatic Arthritis in Italian patients

Benedittis, Giada De; Latini, Andrea; Conigliaro, Paola; Triggianese, Paola; Bergamini, Alberto; Novelli, Lucia; Ciccacci, Cinzia; Chimenti, Maria Sole; Borgiani, Paola

doi:10.1016/j.imbio.2022.152232

Cited by 4 publications

(8 citation statements)

References 40 publications

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“…In this study, we evaluated the potential role of polymorphisms in eight different genes, already investigated in relation to PsA susceptibility in our previous study [ 19 ], in the response to ETN and ADA treatment in a cohort of PsA patients.…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, the variant allele of rs33980500 SNP on TRAF3IP2 resulted as associated with a better response of joint involvement. In a previous study, we had also described an association of the variant allele in TRAF3IP2 gene with a higher number of tender/swollen joints and a higher DAPsA score [ 19 ]. The patients carrying this variant allele had a higher DAPsA value at the beginning of therapy compared to patients carrying the wild-type allele, but at 22 and 54 weeks of treatment we did not observe a difference in DAPsA value between the two genotype groups.…”

Section: Discussionmentioning

confidence: 99%

“…Genomic DNA extraction from peripheral blood mononuclear cells by Qiagen blood DNA mini kit and genotyping analysis by allelic discrimination assay with TaqMan technology were described in a previous paper [ 19 ]. We investigated the following SNPs: rs27524 ( ERAP1 ), rs3099844 ( HCP5 ), rs1800872 ( IL10 ), rs2910164 ( MIR146A ), rs2233945 ( PSORS1C1 ), rs7574865 ( STAT4 ), rs6920220 and rs2230926 ( TNFAIP3 ) and rs33980500 ( TRAF3IP2 ).…”

Section: Methodsmentioning

confidence: 99%

“…In our previous study, we analyzed nine polymorphisms in eight different genes and we showed associations between rs27524 ( ERAP1 ), rs1800872 ( IL10 ), rs7574865 ( STAT4 ), rs6920220 ( TNFAIP3 ), rs33980500 ( TRAF3IP2 ) polymorphisms and PsA susceptibility [ 19 ]. Thus, the current study aimed to investigate the potential role of the same polymorphisms in ERAP1 , HCP5 , IL10 , MIR146A , PSORS1C1 , STAT4 , TNFAIP3 and TRAF3IP2 genes as predictors of efficacy of treatment in a cohort of PsA patients treated with first-line TNF-i, in particular with Etanercept (ETN) and Adalimumab (ADA).…”

Section: Introductionmentioning

confidence: 99%

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Impact of TRAF3IP2, IL10 and HCP5 Genetic Polymorphisms in the Response to TNF-i Treatment in Patients with Psoriatic Arthritis

Benedittis

Latini

Ciccacci

et al. 2022

JPM

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Psoriatic arthritis (PsA) is a chronic inflammatory rheumatic disease. The introduction of therapy with biological drugs is promising, even if the efficacy is very variable. Since the response to drugs is a complex trait, identifying genetic factors associated to treatment response could help define new biomarkers for a more effective and personalized therapy. This study aimed to evaluate the potential role of polymorphisms in genes involved in PsA susceptibility as predictors of therapy efficacy. Nine polymorphisms were analyzed in a cohort of 163 PsA patients treated with TNF-i. To evaluate the treatment response, the DAPsA score was estimated for each patient. The possible association between the selected SNPs and mean values of DAPsA differences, at 22 and 54 weeks from the beginning of the treatment, were evaluated by t-test. Patients carrying the variant allele of TRAF3IP2 seemed to respond better to treatment, both at 22 and 54 weeks. This variant allele was also associated with an improvement in joint involvement. In contrast, patients carrying the IL10 variant allele showed an improvement lower than patients with the wild-type genotype at 54 weeks. Our results suggest that polymorphisms in genes associated with PsA susceptibility could also play a role in TNF-i treatment response.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Impact of TRAF3IP2, IL10 and HCP5 Genetic Polymorphisms in the Response to TNF-i Treatment in Patients with Psoriatic Arthritis

Benedittis

Latini

Ciccacci

et al. 2022

JPM

Self Cite

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“…The MPO–DNA complex correlated with disease activity parameters in PsA, especially with tender and swollen joint counts, as well as with PsA disease activity scores (DAPSA, Disease Activity in PSoriatic arthritis), indicating that its serum fluctuation may serve as a marker to catch articular involvement, and even response to drugs [ 47 ]. NETs in the context of PsO were demonstrated to induce Th17 cells, with a stronger induction in the presence of TRAF3 Interacting Protein 2 (TRAF3IP2) genotype [ 48 ], renowned for increasing the susceptibility of developing PsA and associated with a more severe joint involvement in PsA [ 49 ]. We can hypothesize that, as observed in PsO, NETs may enhance Th17 response in PsA, contributing to orchestrating tissue and systemic inflammation via the IL-17 axis.…”

Section: Neutrophils Across Spa Manifestationsmentioning

confidence: 99%

The Role of Neutrophils in Spondyloarthritis: A Journey across the Spectrum of Disease Manifestations

Coletto

Rizzo

Guggino

et al. 2023

IJMS

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Spondyloarthritis (SpA) contemplates the inflammatory involvement of the musculoskeletal system, gut, skin, and eyes, delineating heterogeneous diseases with a common pathogenetic background. In the framework of innate and adaptive immune disruption in SpA, neutrophils are arising, across different clinical domains, as pivotal cells crucial in orchestrating the pro-inflammatory response, both at systemic and tissue levels. It has been suggested they act as key players along multiple stages of disease trajectory fueling type 3 immunity, with a significant impact in the initiation and amplification of inflammation as well as in structural damage occurrence, typical of long-standing disease. The aim of our review is to focus on neutrophils’ role within the spectrum of SpA, dissecting their functions and abnormalities in each of the relevant disease domains to understand their rising appeal as potential biomarkers and therapeutic targets.

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Increase of ISG15 in psoriasis lesions and its promotion of keratinocyte proliferation via the Hif‐1α signalling pathway

Sun,

2023

Experimental Dermatology

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Psoriasis is a frequent chronic, recurrent and immune‐mediated inflammatory skin disease, whose pathogenesis remains unclear at present. The role of antiviral protein in the pathogenesis of psoriasis is the focus of current research. Interferon stimulated gene 15 (ISG15) is an important antiviral protein. In this study, the expression of ISG15 saw a significant increase through the immunohistochemical detection of imiquimod (IMQ)‐induced mice. In the psoriasis cell model, a remarkable increase also occurred in the expression of ISG15. In this study, it was found that the cell cycle was blocked in G1/S conversion, and a reduction took place in the proliferation of keratinocytes and the expression of a cell cycle‐related protein—cyclin D1 after the knockout of ISG15 in the psoriasis cell model. After that, messenger ribonucleic acid (mRNA) sequencing and Gene Ontology/Kyoto Encyclopedia of Genes and Genomes (GO/KEGG) analysis indicated its close association with the hypoxia inducible factor‐1α (HIF‐1α) signalling pathway. Western blot showed a decrease in the expression of HIF‐1α and vascular endothelial growth factor C (VEGFC) after the knockout of the ISG15 gene. The rescue experiment verified that ISG15 promotes the proliferation of keratinocytes by regulating the HIF‐1α signalling pathway. It was concluded that psoriasis cells and mouse models witnessed the increased expression of ISG15. In psoriasis, knocking out ISG15 inhibits the proliferation of keratinocytes and blocks the cell cycle. Besides, ISG15 promotes the proliferation of keratinocytes through the HIF‐1α signalling pathway.

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A multilocus genetic study evidences the association of autoimmune-related genes with Psoriatic Arthritis in Italian patients

Cited by 4 publications

References 40 publications

Impact of TRAF3IP2, IL10 and HCP5 Genetic Polymorphisms in the Response to TNF-i Treatment in Patients with Psoriatic Arthritis

Impact of TRAF3IP2, IL10 and HCP5 Genetic Polymorphisms in the Response to TNF-i Treatment in Patients with Psoriatic Arthritis

The Role of Neutrophils in Spondyloarthritis: A Journey across the Spectrum of Disease Manifestations

Increase of ISG15 in psoriasis lesions and its promotion of keratinocyte proliferation via the Hif‐1α signalling pathway

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