Article
Immunology
Yu Cheng, Yuying Si, Lan Wang, Menglei Ding, Shanshan Yu, Liu Lu, Yide Guo, Ming Zong, Lieying Fan
Summary: Hypoxia in rheumatoid arthritis (RA) leads to over-expression of PADI4, which plays a role in M1 macrophage activation. The co-polarization of M1 and M2 is influenced by hypoxia, and down-regulating PADI4 expression can alleviate joint swelling and destruction in CIA rats by decreasing M1 macrophages.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2021)
Article
Genetics & Heredity
Takashi Higuchi, Shomi Oka, Hiroshi Furukawa, Kota Shimada, Atsushi Hashimoto, Akiko Komiya, Toshihiro Matsui, Naoshi Fukui, Shigeto Tohma
Summary: This study revealed for the first time the independent association of DR6 with CKD in Japanese RA patients, although DR6 is known to be protective against RA. Our data suggest direct or indirect roles of HLA for the development of CKD in RA, but the mechanisms are not clear.
Article
Biochemistry & Molecular Biology
Monica Guadalupe Matuz-Flores, Jesus Alfredo Rosas-Rodriguez, Orlando Tortoledo-Ortiz, Salvador Munoz-Barrios, Gloria Esther Martinez-Bonilla, Jorge Hernandez-Bello, Christian Johana Banos-Hernandez, Cesar Pacheco-Tena, Gabriela Athziri Sanchez-Zuno, Beatriz Panduro-Espinoza, Jose Francisco Munoz-Valle
Summary: This study found that the polymorphisms of the PADI4 gene are associated with the risk and progression of RA. The GTG haplotype is related to RA susceptibility and is associated with higher PADI4 mRNA expression and PAD4 enzymatic activity in RA patients.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2022)
Article
Genetics & Heredity
Mutshaba Bashir, Wajeeha Mateen, Sadia Khurshid, Javaid Mehmood Malik, Zehra Agha, Fariha Khan, Muhammad Ajmal, Syeda Hafiza Benish Ali
Summary: This study analyzed the relationship between the PADI4 rs874881 variant and susceptibility to rheumatoid arthritis (RA), and found that this variant is associated with increased RA susceptibility. The study also performed interaction and stratified analyses on this variant in RA, which is the first of its kind.
Article
Immunology
Zhen Zeng, Qing-Qing Sun, Wei Zhang, Qin-Wen Wen, Ting-Hui Wang, Wen Qin, Dong-Mei Xiao, Zhen Zhang, Hua Huang, Yi-Jun Mo, Xiu-Di Wu, Han Cen
Summary: The study found associations between genetic polymorphisms in NF-xB signaling pathway genes and RA, as well as significant genetic interactions between certain genes, providing further evidence for the role of NF-xB signaling pathway in the pathogenesis of RA.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2021)
Article
Medicine, General & Internal
Alejandro Escudero-Contreras, Clementina Lopez-Medina, Eduardo Collantes-Estevez, Rafaela Ortega-Castro, Jerusalem Calvo-Gutierrez, Natalia Mena-Vazquez, Blanca Panero-Lamothe, Barbara Manzanares-Martin, Rafael Caliz-Caliz, Alberto Jimenez-Morales, Mayte Ruiz-Jimenez, Pilar Font-Ugalde
Summary: This study identified significant associations between the GGH-T401C genotype and MTX intolerance, and the ABCC2-C24T genotype and MTX intolerance. These findings may contribute to the development of new biomarkers and personalized medicine for patients with RA.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Immunology
Ji-Jun Mo, Wei Zhang, Qin-Wen Wen, Ting -Hui Wang, Wen Qin, Zhen Zhang, Hua Huang, Han Cen, Xiu-Di Wu
Summary: The study identified a significant association between the ATG16L1 rs2241880 polymorphism and rheumatoid arthritis (RA) in the Chinese population, as well as a genetic interaction between ATG16L1 and ATG16L2 in determining the development of RA, suggesting the involvement of autophagy in the pathogenesis of RA.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2021)
Article
Cell Biology
Karol J. Nava-Quiroz, Jorge Rojas-Serrano, Gloria Perez-Rubio, Ivette Buendia-Roldan, Mayra Mejia, Juan Carlos Fernandez-Lopez, Pedro Rodriguez-Henriquez, Noe Ayala-Alcantar, Espiridion Ramos-Martinez, Luis Alberto Lopez-Flores, Alma D. Del Angel-Pablo, Ramces Falfan-Valencia
Summary: This study found that single nucleotide variants in PADI4 and PADI2 are associated with susceptibility to interstitial lung disease (ILD) in rheumatoid arthritis (RA) patients. The rs1748033 in PADI4 and two different SNVs in PADI2 are associated with RA development but not ILD. Additionally, PAD4 protein levels are increased in RA-ILD patients with the minor allele homozygous genotype in PADI4 SNVs.
Article
Multidisciplinary Sciences
Ken Yoshida, Haruyasu Ito, Daisaburo Kurosaka, Ryo Ikeda, Kentaro Noda, Mitsuru Saito, Daitaro Kurosaka
Summary: PAD4 contributes to the production of citrullinated proteins as autoantigens in RA. This study showed that autocitrullinated PAD4 can recruit monocytes and induce inflammation in mouse joints. Higher levels of citrullinated PAD4 were found in the synovial fluid of RA patients compared to osteoarthritis patients.
SCIENTIFIC REPORTS
(2023)
Article
Immunology
Laura Massarenti, Christian Enevold, Dres Damgaard, Niels Odum, Peter Garred, Morten Frisch, Miriam A. Shelef, Soren Jacobsen, Claus Henrik Nielsen
Summary: This study found an association between PADI4 gene polymorphisms and ACPA-positive RA, particularly in HLA-DRB1*04-positive individuals, and independently with ACPA-negative RA.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Tomasz Budlewski, Joanna Sarnik, Grzegorz Galita, Grzegorz Dragan, Olga Brzezinska, Marta Poplawska, Tomasz Poplawski, Joanna Makowska
Summary: The polymorphisms of PADI4, PTPN22, and STAT4 genes have been detected in the Polish population, which are also known risk factors for rheumatoid arthritis (RA) in various other populations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Zhicheng Yang, Weixi Liu, Ting Yan, Ruiping Liu
Summary: The study revealed that HLA-DPB1 rs9277535 polymorphism is associated with a decreased risk of rheumatoid arthritis in the Chinese population, particularly among women and those at least 55 years old. Additionally, certain genotypes were linked to inflammatory markers and levels of HLA-DPB1 plasma and mRNA in RA patients.
Article
Genetics & Heredity
Jian Chen, Aijun Zhang, Yonghui Yang, Yufang Si, Dingjun Hao
Summary: The study demonstrated the correlation between IL-6 gene polymorphisms and susceptibility to rheumatoid arthritis, and confirmed that this relationship is restricted to age and gender in the Chinese Han population.
Article
Immunology
Adil Ahmed Ali, Khalid Eltahir Khalid, Somaya Elhaj Mohammed, Mohammed Salman Akhtar, Osman Khalafalla Saeed
Summary: The aim of this study was to determine the frequency of HLA class II alleles and haplotypes in Sudanese patients with Rheumatoid Arthritis (RA). The study found that HLA-DRB1*04 and *10 alleles were more common in RA patients, while HLA-DRB1*07 allele was significantly less common. HLA-DQB1*03 allele was strongly associated with RA risk, whereas HLA-DQB1*02 and *06 showed protective effects against RA. Several specific HLA haplotypes were also found to be significantly associated with RA risk or protection.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Biochemical Research Methods
Birga A. Mengesha, Lin Ning, Jian Huang
Summary: This review study investigated the association between Human Leukocyte Antigen (HLA) HLA-DRB1 alleles and the risk of Rheumatoid Arthritis (RA). The results demonstrated that certain HLA-DRB1 alleles were significantly associated with an increased risk of RA, while others were potentially protective against the disease. This study provides important insights into the relationship between HLA-DRB1 and the risk of RA in different ethnic groups.
CURRENT BIOINFORMATICS
(2022)
Review
Microbiology
Carlo Perricone, Paola Triggianese, Roberto Bursi, Giacomo Cafaro, Elena Bartoloni, Maria Sole Chimenti, Roberto Gerli, Roberto Perricone
Summary: IVIG, derived from plasma of donors, is used for prevention and treatment of various infections especially in immunocompromised patients, showing anti-viral and anti-inflammatory properties. Its evolution from passive immunity source to immunomodulatory agent has led to extensive applications in autoimmune diseases.
Letter
Rheumatology
Carlo Perricone, Elena Bartoloni, Giacomo Cafaro, Roberto Caporali, Roberto Gerli
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Rheumatology
Andrea Latini, Lucia Novelli, Fulvia Ceccarelli, Cristiana Barbati, Carlo Perricone, Giada De Benedittis, Fabrizio Conti, Giuseppe Novelli, Cinzia Ciccacci, Paola Borgiani
Summary: In SLE patients, higher CD44v6 mRNA expression correlates with a higher level of this isoform, suggesting impaired CD44 splicing mechanism in the disease. The ratio of CD44v3/v6 mRNA is unbalanced, decreasing from healthy controls to SLE patients, and correlating with disease duration. The splicing regulator ESRP1 and CD44 polymorphism rs9666607 are potential factors influencing CD44 expression in SLE patients.
Editorial Material
Rheumatology
Elena Bartoloni, Carlo Perricone, Giacomo Cafaro, Alessia Alunno, Roberto Gerli
Article
Nutrition & Dietetics
Paola Triggianese, Carlo Perricone, Erica De Martino, Arianna D'Antonio, Maria Sole Chimenti, Paola Conigliaro, Sara Ferrigno, Ilio Giambini, Elisabetta Greco, Caterina De Carolis
Summary: The study found a higher proportion of DQ2 alleles in infertile and RSA women compared to controls, and predisposing DQ2 alleles are independent risk factors for AIDs and 25(OH)D deficiency. Patients with AIDs are more likely to have 25(OH)D deficiency.
Review
Rheumatology
Fulvia Ceccarelli, Francesco Natalucci, Giulio Olivieri, Carlo Perricone, Carmelo Pirone, Francesca Romana Spinelli, Cristiano Alessandri, Fabrizio Conti
Summary: Systemic lupus erythematosus (SLE)-related arthritis, traditionally defined as non-erosive, has been challenged by new imaging techniques showing up to 40% of patients with erosive damage. This more aggressive phenotype was considered in the 2012 classification criteria and 2019 treatment recommendations, with a focus on biomarkers associated with erosive damage in SLE patients.
Article
Immunology
Andrea Latini, Giada De Benedittis, Carlo Perricone, Serena Colafrancesco, Paola Conigliaro, Fulvia Ceccarelli, Maria Sole Chimenti, Lucia Novelli, Roberta Priori, Fabrizio Conti, Cinzia Ciccacci, Paola Borgiani
Summary: The study identified significant associations between three VDR gene polymorphisms and autoimmune connective tissue diseases in the Italian population, suggesting that specific genotypes may influence disease susceptibility and clinical phenotypes.
JOURNAL OF IMMUNOLOGY RESEARCH
(2021)
Article
Medicine, General & Internal
Antonio Marchesoni, Pierluigi Macchioni, Stefania Gasparini, Carlo Perricone, Fabio Massimo Perrotta, Rosa Daniela Grembiale, Ettore Silvagni, Roberta Ramonda, Luisa Costa, Alen Zabotti, Giacomo Curradi, Giuliana Gualberti, Francesca Marando, Carlo Salvarani
Summary: This study evaluated the use of ultrasound examination to distinguish pain from enthesitis in patients with psoriatic arthritis (PsA) and fibromyalgia syndrome (FMS). The results showed that PsA patients had a higher percentage of entheseal changes compared to FMS patients. The ultrasound evaluation can be helpful in differentiating the cause of pain in these patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Fulvia Ceccarelli, Giulio Olivieri, Carmelo Pirone, Cinzia Ciccacci, Licia Picciariello, Francesco Natalucci, Carlo Perricone, Francesca Romana Spinelli, Cristiano Alessandri, Paola Borgiani, Fabrizio Conti
Summary: This study aimed to determine the distribution of organ damage in a cohort of systemic lupus erythematosus (SLE) patients and evaluate the roles of clinical and genetic factors in the development of chronic damage. The results showed that musculoskeletal, neuropsychiatric, and ocular domains were most frequently involved. The presence of damage was associated with age, disease duration, neuropsychiatric manifestations, anti-phospholipid syndrome, and anti-dsDNA positivity. Therapies such as cyclophosphamide, mycophenolate mofetil, and glucocorticoids were also associated with the development of damage. Genetic analysis revealed associations between specific genes (TNFSF4 and MIR1279) and renal and neuropsychiatric damage, respectively.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Rheumatology
Mauro Fatica, Arianna D'Antonio, Lucia Novelli, Paola Triggianese, Paola Conigliaro, Elisabetta Greco, Alberto Bergamini, Carlo Perricone, Maria Sole Chimenti
Summary: This review aims to investigate the pathophysiological mechanisms in spondyloarthritis (SpA). Genetic factors, immunological pathways, and abnormalities of bone metabolism are found to be closely related to the development of axial clinical manifestations in patients. Activation of immunological pathways leads to bone metabolism abnormalities, resulting in various bone anomalies in SpA patients. Treatment of SpA is challenging, but both biological and targeted synthetic drugs show promising efficacy and safety profile.
CURRENT RHEUMATOLOGY REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Giada De Benedittis, Andrea Latini, Serena Colafrancesco, Roberta Priori, Carlo Perricone, Lucia Novelli, Paola Borgiani, Cinzia Ciccacci
Summary: This study found a significant decrease in mtDNA copies in the peripheral blood of Sjogren's syndrome (SS) patients, as well as expression variations in genes related to mitochondrial dynamics. These results provide further insight into the potential involvement of mitochondrial dysfunctions in SS disease.
Review
Health Care Sciences & Services
Mariangela Manfredi, Lieve Van Hoovels, Maurizio Benucci, Riccardo De Luca, Carmela Coccia, Pamela Bernardini, Edda Russo, Amedeo Amedei, Serena Guiducci, Valentina Grossi, Xavier Bossuyt, Carlo Perricone, Maria Infantino
Summary: uPAR is a membrane-bound glycoprotein, and its bioactive form, suPAR, is primarily expressed on the surface of immunologically active cells. Higher levels of suPAR have been associated with disease severity, relapse, and mortality in various inflammatory diseases. This review summarizes the current literature on the potential role of suPAR as a biomarker in autoimmune rheumatic and non-rheumatic diseases.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Rheumatology
A. Colangelo, F. Tromby, G. Cafaro, R. Gerli, E. Bartoloni, C. Perricone
Summary: Adenosine deaminase 2 deficiency is a rare monogenic vasculopathy with diverse clinical manifestations and challenging treatment.
Review
Rheumatology
Lorenza Bruno, Martina Mandarano, Guido Bellezza, Angelo Sidoni, Roberto Gerli, Elena Bartoloni, Carlo Perricone
Summary: Polyangiitis overlap syndrome is a rare clinical entity characterized by overlapping features of multiple vasculitis, typically eosinophilic granulomatosis with polyangiitis (EGPA) and granulomatosis with polyangiitis (GPA). We present a case of a 66-year-old woman with nasal obstruction, external nose deformity, sensorineural hearing loss, eosinophilia, high titer anti-PR3 antibodies and lung involvement, who was successfully treated with cyclophosphamide. Recognition of this entity is crucial due to its distinct clinical phenotype and response to therapy in the complex scenario of ANCA-associated vasculitides.
RHEUMATOLOGY INTERNATIONAL
(2023)
Article
Medicine, Research & Experimental
Carlo Perricone, Giacomo Cafaro, Elena Fiumicelli, Roberto Bursi, Dimitrios Bogdanos, Ilenia Riccucci, Roberto Gerli, Elena Bartoloni
Summary: This study retrospectively evaluated the predictive factors of sustained remission and flare in patients with polymyalgia rheumatica (PMR). The results showed that female patients and higher baseline prednisone dosage were negative predictors of complete remission at 24 months and were associated with a higher risk of flare.
CLINICAL AND EXPERIMENTAL MEDICINE
(2023)