Article
Rheumatology
Yonatan Butbul Aviel, Ayala Ofir, Ofer Ben-Izhak, Euvgeni Vlodavsky, Netanel Karbian, Riva Brik, Dror Mevorach, Daniella Magen
Summary: In this study, a novel homozygous truncating variant in LACC1 was associated with autosomal-recessive JIA. The expression of LACC1 gene was found to have a regulatory effect on disease phenotype and clinical manifestations. Additionally, a variant in the C5 gene may play a protective role in modulating the severity of the disease phenotype. Furthermore, the wild-type LACC1 gene may have an inhibitory role on pro-inflammatory pathways.
Article
Pediatrics
Lili Ye, Yingying Jin, Hua Huang, Fei Ding, Xuemei Xu, Chenxi Liu, Shengfang Bao, Jing Wu, Yanliang Jin
Summary: This study explored the role of DKK-1 and SOST in the pathogenesis of JIA. It was found that plasma levels of DKK-1 were significantly higher in JIA patients, especially in those with HLA-B27 positivity. After treatment, DKK-1 levels decreased significantly. However, there was no significant change in SOST levels among different JIA subtypes, before and after treatment, and healthy controls.
PEDIATRIC RESEARCH
(2023)
Article
Immunology
Jiawen Xu, Jun Ma, Yi Zeng, Haibo Si, Yuangang Wu, Shaoyun Zhang, Bin Shen
Summary: In this study, a cross-tissue transcriptome-wide association study was conducted to identify a group of genes and pathways associated with JIA, providing novel clues to uncover the pathogenesis of JIA.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
N. Pudjihartono, D. Ho, E. Golovina, T. Fadason, A. W. Kempa-Liehr, J. M. O'Sullivan
Summary: Juvenile idiopathic arthritis (JIA) is an autoimmune, inflammatory joint disease. By analyzing the 3D genome organization, we identified 59 JIA-risk loci that regulate the expression of 210 target genes. These genes are involved in immune-related pathways, pro-inflammatory cytokine release, immune cell proliferation and differentiation, and physiological mechanisms related to joint inflammation.
JOURNAL OF AUTOIMMUNITY
(2023)
Article
Health Care Sciences & Services
Amelia J. Garner, Reza Saatchi, Oliver Ward, Daniel P. Hawley
Summary: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease in children, requiring prompt and accurate diagnosis due to its potential for chronic damage and functional disability. Recent studies have demonstrated the potential value of novel tools and techniques in assessing and monitoring JIA, but additional research is needed to confirm their clinical utility.
Review
Rheumatology
Hema Chaplin, Lewis Carpenter, Anni Raz, Elena Nikiphorou, Heidi Lempp, Sam Norton
Summary: The study identified that refractory disease in RA and polyJIA is defined mainly as resistance to multiple drugs with different mechanisms of action and persistence of symptoms and high disease activity. It is concluded that there is a need for a clear unified definition to aid study comparisons and appropriate identification of patients.
Article
Immunology
Hui Jiang, Kefeng Cao, Chang Fan, Xiaoya Cui, Yanzhen Ma, Jian Liu
Summary: This study identified changes in m6A methlyation of genes related to inflammation, cell proliferation, and apoptosis in rheumatoid arthritis cells. Validation confirmed the expression levels of WTAP, RIPK2, JAK3, and TNFRSF10A were consistent with the sequencing results.
JOURNAL OF INFLAMMATION RESEARCH
(2021)
Article
Medicine, General & Internal
Monika Ostrowska, Emil Michalski, Piotr Gietka, Malgorzata Manczak, Magdalena Posadzy, Iwona Sudol-Szopinska
Summary: This study compared MRI findings between patients clinically suspected of Juvenile Idiopathic Arthritis (JIA) and patients with ankle arthralgia of unknown cause. The results showed that inflammatory features were observed on MRI, with tenosynovitis being significantly more common in JIA patients. However, the MRI summarized score did not effectively differentiate between JIA and non-JIA patients.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Gastroenterology & Hepatology
Connor A. Emdin, Mary Haas, Veeral Ajmera, Tracey G. Simon, Julian Homburger, Cynthia Neben, Lan Jiang, Wei-Qi Wei, Qiping Feng, Alicia Zhou, Joshua Denny, Kathleen Corey, Rohit Loomba, Sekar Kathiresan, Amit Khera
Summary: This study identified 12 independent genetic variants, including 7 newly identified ones, that confer risk for cirrhosis. A polygenic score based on these variants can identify a subset of the population at substantially increased risk, particularly those susceptible to the hepatotoxic effects of excess alcohol consumption or obesity.
Article
Immunology
Elizabeth A. A. Crinzi, Emma K. K. Haley, Kerry E. E. Poppenberg, Kaiyu Jiang, Vincent M. M. Tutino, James N. N. Jarvis
Summary: This study reveals the impact of genetic risk variants on immune functions in polyarticular/oligoarticular forms of juvenile idiopathic arthritis (JIA) by analyzing genomics data and epigenetic marks. By identifying the cells affected and the genes impacted by JIA risk variants, this study provides important insights into the pathogenesis of JIA.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Shan Lin, Cuncun Ke, Lin Liu, Yahui Gao, Lingna Xu, Bo Han, Yaofeng Zhao, Shengli Zhang, Dongxiao Sun
Summary: In this study, 14 candidate genes related to immunoglobulin concentrations in colostrum and serum in dairy cattle were identified through genome-wide association studies (GWASs). These findings provide a basis for further investigation into key genes and mutations affecting immunoglobulin concentrations, as well as important information for genetic improvement of immune traits in dairy cattle.
Article
Pediatrics
Sarah L. N. Clarke, Hannah J. Jones, Gemma C. Sharp, Kayleigh E. Easey, Alun D. Hughes, Athimalaipet Ramanan, Caroline L. Relton
Summary: This study found that genetic risk for JIA is associated with multiple cardiovascular risk factors, supporting the hypothesis of increased cardiovascular risk in JIA. The findings suggest that cardiovascular risk is a core feature of JIA, rather than secondary to the disease activity/treatment, and that cardiovascular risk counseling should be included in patient care.
PEDIATRIC RHEUMATOLOGY
(2022)
Review
Rheumatology
Claas H. Hinze, Dirk Foell, Christoph Kessel
Summary: Systemic juvenile idiopathic arthritis (sJIA) is a disease characterized by severe systemic inflammation and arthritis. It poses challenges to rheumatologists treating pediatric and adult patients worldwide. Although treatment plans exist for classic sJIA, there is still a lack of clear treatment approaches for early sJIA without arthritis and complicated sJIA.
NATURE REVIEWS RHEUMATOLOGY
(2023)
Article
Biotechnology & Applied Microbiology
Mimi Wang, Jingyun Wu, Shufeng Lei, Xingbo Mo
Summary: This study identified RNAm-SNPs related to rheumatoid arthritis (RA) and suggested that they may affect the expression levels of corresponding genes and proteins.
Article
Biochemistry & Molecular Biology
Grzegorz Galita, Joanna Sarnik, Olga Brzezinska, Tomasz Budlewski, Grzegorz Dragan, Marta Poplawska, Ireneusz Majsterek, Tomasz Poplawski, Joanna S. S. Makowska
Summary: Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by chronic arthritis and joint deformities. The risk of malignant neoplasms among patients with RA is being studied due to the autoimmune nature of RA and the use of immunomodulatory therapy. Impaired DNA repair efficiency in individuals with RA may contribute to this risk. In our study, we evaluated genetic variation in DNA damage repair genes and found associations between RA occurrence and certain polymorphisms. These findings suggest that DNA damage repair gene polymorphisms may play a role in RA pathogenesis and can potentially serve as markers of RA.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Rheumatology
Elio G. Carmona, Jose A. Garcia-Gimenez, Raquel Lopez-Mejias, Chiea Chuen Khor, Jong-Keuk Lee, Ekim Taskiran, Seza Ozen, Alojzija Hocevar, Lili Liu, Mario Gorenjak, Uros Potocnik, Krzysztof Kiryluk, Norberto Ortego-Centeno, Maria C. Cid, Jose Hernandez-Rodriguez, Santos Castaneda, Miguel A. Gonzalez-Gay, David Burgner, Javier Martin, Ana Marquez
Summary: This study aimed to increase knowledge on the genetic contribution to Kawasaki disease (KD) and IgA vasculitis (IgAV) by performing a comprehensive large-scale analysis on the genetic overlap between them. A new risk locus with pleiotropic effects on the two childhood vasculitides analyzed was identified, representing the strongest non-HLA signal described for IgAV to date.
Review
Immunology
Ana Marquez, Javier Martin
Summary: Type 1 diabetes (T1D) is a chronic disease caused by the destruction of pancreatic beta cells by autoreactive T lymphocytes. Genetic studies have identified common susceptibility loci between T1D and other autoimmune diseases, which can help in the development of new therapeutic approaches. Identifying common pathogenic mechanisms is crucial for understanding the shared genetic component and improving treatment strategies.
SEMINARS IN IMMUNOPATHOLOGY
(2022)
Correction
Immunology
Ana Marquez, Javier Martin
SEMINARS IN IMMUNOPATHOLOGY
(2022)
Article
Rheumatology
Javier Martinez-Lopez, Martin Kerick, Lourdes Ortiz-Fernandez, Marialbert Acosta-Herrera, Ana Marquez, Javier Martin
Summary: This study reports the association between rs76428106-C of the FLT3 gene and systemic sclerosis (SSc). The findings suggest that this low frequency polymorphism may play a role in the susceptibility to SSc and its different subphenotypes.
Article
Rheumatology
David Gonzalez-Serna, Chenfu Shi, Martin Kerick, Jenny Hankinson, James Ding, Amanda McGovern, Mauro Tutino, Gonzalo Villanueva-Martin, Norberto Ortego-Centeno, Jose Luis Callejas, Javier Martin, Gisela Orozco
Summary: This study used functional genomics to understand the genetic basis and disease mechanisms of systemic sclerosis (SSc). By analyzing gene expression and interactions in immune cells from SSc patients and healthy controls, 39 new potential target genes and 7 known SSc-associated genes were identified. The study also found cell type-specific interactions and potential drug targets for SSc treatment.
ARTHRITIS & RHEUMATOLOGY
(2023)
Article
Medicine, General & Internal
Joao Carlos Batista Liz, Fernanda Genre, Veronica Pulito-Cueto, Sara Remuzgo-Martinez, Diana Prieto-Pena, Ana Marquez, Norberto Ortego-Centeno, Maria Teresa Leonardo, Ana Penalba, Javier Narvaez, Luis Martin-Penagos, Lara Belmar-Vega, Cristina Gomez-Fernandez, Jose A. Miranda-Filloy, Luis Caminal-Montero, Paz Collado, Diego De Argila, Patricia Quiroga-Colina, Esther F. Vicente-Rabaneda, Ana Triguero-Martinez, Esteban Rubio, Manuel Leon Luque, Juan Maria Blanco-Madrigal, Eva Galindez-Agirregoikoa, Javier Martin, Oreste Gualillo, Ricardo Blanco, Santos Castaneda, Miguel A. Gonzalez-Gay, Raquel Lopez-Mejias
Summary: The study found that CD40, BLK, and BANK1 genes are not significantly associated with the pathogenesis of IgAV.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Genetics & Heredity
Martin Kerick, Marialbert Acosta-Herrera, Carmen Pilar Simeon-Aznar, Jose Luis Callejas, Shervin Assassi, Susanna M. Proudman, Mandana Nikpour, Nicolas Hunzelmann, Gianluca Moroncini, Jeska K. de Vries-Bouwstra, Gisela Orozco, Anne Barton, Ariane L. Herrick, Chikashi Terao, Yannick Allanore, Carmen Fonseca, Marta Eugenia Alarcon-Riquelme, Timothy R. D. J. Radstake, Lorenzo Beretta, Christopher P. Denton, Maureen D. Mayes, Javier Martin
Summary: This study investigated the association of C4 CN with systemic sclerosis risk, finding that higher C4 CN provides protection to SSc, while deviations from CN parity of C4A and C4B increase risk. Gender differences were observed in the protection conferred by C4A and C4B.
NPJ GENOMIC MEDICINE
(2022)
Article
Pediatrics
Alba Gonzalez-Aumatell, Maria Victoria Bovo, Clara Carreras-Abad, Sara Cuso-Perez, Elia Domenech Marsal, Roser Coll-Fernandez, Aroia Goicoechea Calvo, Maria Giralt-Lopez, Antonia Ensenat Cantallops, Sara Moron-Lopez, Javier Martinez-Picado, Paula Sol Ventura, Carlos Rodrigo, Maria Mendez Hernandez
Summary: This study aims to determine the main clinical characteristics of long COVID in children and young people (CYP) and investigate its impact on their academic, social, and health status. The results show that long COVID significantly affects the health, academic, and social life of CYP, with fatigue, neurocognitive disorders, muscular weakness, and headache being the most common symptoms.
Article
Rheumatology
Lourdes Ortiz-Fernandez, Elio G. Carmona, Martin Kerick, Paul Lyons, Francisco David Carmona, Raquel Lopez Mejias, Chiea Chuen Khor, Peter C. Grayson, Enrico Tombetti, Lindi Jiang, Haner Direskeneli, Guher Saruhan-Direskeneli, Jose-Luis Callejas-Rubio, Augusto Vaglio, Carlo Salvarani, Jose Hernandez-Rodriguez, Maria Cinta Cid, Ann W. Morgan, Peter A. Merkel, David Burgner, Kenneth G. C. Smith, Miguel Angel Gonzalez-Gay, Amr H. Sawalha, Javier Martin, Ana Marquez
Summary: This study identified new genetic risk loci and potential causal genes for the treatment of vasculitis, providing promising targets for therapeutic intervention.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Immunology
Beatrix Paton, Pol Herrero, Joaquim Peraire, Antoni del Pino, Silvia Chafino, Javier Martinez-Picado, Frederic Gomez-Bertomeu, Anna Rull, Nuria Canela, Manuel Suarez
Summary: The N-glycosylation profiles in plasma of COVID-19 patients vary according to disease severity, with certain N-glycans showing potential as biomarkers for risk stratification and prognosis assessment. These findings indicate the potential of glycans as biomarkers for COVID-19 severity.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Immunology
Anis Barmada, Louis-Francois Handfield, Gerard Godoy-Tena, Carlos de la Calle-Fabregat, Laura Ciudad, Anna Arutyunyan, Eduardo Andres-Leon, Regina Hoo, Tarryn Porter, Agnes Oszlanczi, Laura Richardson, Fernando J. Calero-Nieto, Nicola K. Wilson, Domenica Marchese, Carmen Sancho-Serra, Jorge Carrillo, Silvia Presas-Rodriguez, Cristina Ramo-Tello, Adolfo Ruiz-Sanmartin, Ricard Ferrer, Juan Carlos Ruiz-Rodriguez, Monica Martinez-Gallo, Monica Munera-Campos, Jose Manuel Carrascosa, Berthold Gottgens, Holger Heyn, Elena Prigmore, Ivette Casafont-Sole, Xavier Solanich, Ildefonso Sanchez-Cerrillo, Isidoro Gonzalez-Alvaro, Maria Gabriella Raimondo, Andreas Ramming, Javier Martin, Eva Martinez-Caceres, Esteban Ballestar, Roser Vento-Tormo, Javier Rodriguez-Ubreva
Summary: In COVID-19, patients with pre-existing autoimmune conditions experience disturbed immune responses to SARS-CoV-2 infection, which have important implications for disease treatment and follow-up.
EUROPEAN JOURNAL OF IMMUNOLOGY
(2023)
Article
Immunology
Gonzalo Villanueva-Martin, Marialbert Acosta-Herrera, Elio G. Carmona, Martin Kerick, Norberto Ortego-Centeno, Jose Luis Callejas-Rubio, Norbert Mages, Sven Klages, Stefan Borno, Bernd Timmermann, Lara Bossini-Castillo, Javier Martin
Summary: This study reveals the role of CD14+ PB Mos in systemic sclerosis (SSc) through single-cell transcriptome analysis. An increased number of ncMos and active IFN signature in SSc patients promote fibrosis. Additionally, a SSc-related cluster of IRF7+ STAT1+ iMos and a depletion of M2 polarised cMos in SSc were identified.
JOURNAL OF AUTOIMMUNITY
(2023)
Article
Rheumatology
Javier Martinez-Lopez, Ana Marquez, Francesco Pegoraro, Lourdes Ortiz-Fernandez, Marialbert Acosta-Herrera, Martin Kerick, Elena Gelain, Eli L. Diamond, Benjamin H. Durham, Omar Abdel-Wahab, Ronald S. Go, Matthew J. Koster, Lorenzo Dagna, Corrado Campochiaro, Matthew Collin, Paul Milne, Juvianee I. Estrada-Veras, Kevin O'Brien, Matthias Papo, Fleur Cohen-Aubar, Zahir Amoura, Julien Haroche, Javier Martin, Augusto Vaglio
Summary: This study investigates the inherited genetic component of ECD through the first genome-wide association study. The results identify a new susceptibility locus at the 18q12.3 genomic region, which is associated with ECD, and functional annotation reveals additional genes that may be involved in the pathogenesis of the disease.
ARTHRITIS & RHEUMATOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Inmaculada Rodriguez-Martin, Gonzalo Villanueva-Martin, Alfredo Guillen-Del-Castillo, Norberto Ortego-Centeno, Jose L. Callejas, Carmen P. Simeon-Aznar, Javier Martin, Marialbert Acosta-Herrera
Summary: By using the two-sample Mendelian randomization approach, this study reveals a causal relationship between telomere length in leukocytes and systemic sclerosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Allergy
Lourdes Ortiz-Fernandez, Javier Martin, Marta E. Alarcon-Riquelme
Summary: Systemic lupus erythematosus, systemic sclerosis, rheumatoid arthritis, and Sjogren's syndrome are major autoimmune rheumatic diseases with complex etiologies influenced by environmental and genetic factors. The HLA region is the strongest susceptibility factor for these conditions, and non-HLA risk genetic variants have also been discovered.
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
(2023)