Arthritis & Rheumatology最新文献

{"title":"The incidence of juvenile idiopathic arthritis in Norway varies with the latitude gradient: Are we rigorous enough?","authors":"Sheng Qiu,James Cheng-Chung Wei,Zhenhua Ying","doi":"10.1002/art.43240","DOIUrl":"https://doi.org/10.1002/art.43240","url":null,"abstract":"","PeriodicalId":129,"journal":{"name":"Arthritis & Rheumatology","volume":"13 1","pages":""},"PeriodicalIF":13.3,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144087554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Complex regulatory interactions at GDF5 shape joint morphology and osteoarthritis disease risk","authors":"Clarissa R. Coveney, David Maridas, Hao Chen, Pushpanathan Muthuirulan, Zun Liu, Evelyn Jagoda, Siddharth Yarlagadda, Mohammadreza Movahhedi, Benedikt Proffen, Babak Dashtdar, Mahdi Aghaalikhani, Daniel Richard, Vicki Rosen, Ata M. Kiapour, Terence D. Capellini","doi":"10.1002/art.43231","DOIUrl":"https://doi.org/10.1002/art.43231","url":null,"abstract":"ObjectivesTo reveal causal level osteoarthritis (OA) disease biology by targeting regulatory interactions at <jats:italic>GDF5.</jats:italic>MethodsBy investigating different <jats:italic>GDF5</jats:italic> regulatory regions (<jats:italic>R2, R3‐5, R7‐R9, R18‐20, GROW1)</jats:italic> we explored their functional impacts on gene expression and joint morphology <jats:italic>in vivo</jats:italic> and <jats:italic>in vitro</jats:italic>. We additionally modeled OA variants in said enhancers <jats:italic>in vitro</jats:italic> and <jats:italic>in vivo</jats:italic> mouse models for expression and disease effects.ResultsFor all regulatory regions we found evidence of activation/repression between or within said regions that impacted patterns of joint‐specific expression. Examples are: (1) the <jats:italic>R4</jats:italic> enhancer, whilst considered to be activating, has dual roles repressing expression in adjacent tissues and sites; and (2) Growth plate‐specific expression patterns by the <jats:italic>GROW1</jats:italic> regulatory region are confined by adjacent sequences to restrict its expression to the perichondrium. We next targeted different regions/variants <jats:italic>in vivo.</jats:italic> Testing the <jats:italic>R2de</jats:italic> region resulted in ~40% reduction in <jats:italic>Gdf5</jats:italic> expression, joint morphology changes, but no increase in OA risk; likewise, modeling the most cited OA risk (rs143384) variant in mice had no impact on expression, joint morphology, or disease. However, we identified epistatic interactions between this rs143384 risk variant and downstream disease risk variants lying within regulatory regions subject to repression, that compound to impact expression.ConclusionsThese findings, at the best studied OA locus to date, serve as lessons on the nature of how gene regulatory interactions and local epistasis work in the etiology of OA disease risk, and that assessment of individual variants of high GWAS significance need not alone be considered causal.","PeriodicalId":129,"journal":{"name":"Arthritis & Rheumatology","volume":"119 1","pages":""},"PeriodicalIF":13.3,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143945904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Innate Lymphoid Cell phenotypic and functional alterations in systemic Juvenile Idiopathic Arthritis","authors":"Linda Quatrini, Cecilia Ciancaglini, Ivan Caiello, Silvia Santopolo, Manuela Pardeo, Valentina Matteo, Elena Loricchio, Donato Amodio, Elena Morrocchi, Giulio Olivieri, Paolo Palma, Antonella Insalaco, Marco Francesco Natale, Arianna de Matteis, Nicola Tumino, Claudia Bracaglia, Paola Vacca, Lorenzo Moretta, Fabrizio De Benedetti, Giusi Prencipe","doi":"10.1002/art.43217","DOIUrl":"https://doi.org/10.1002/art.43217","url":null,"abstract":"Systemic juvenile idiopathic arthritis (sJIA) is a chronic childhood disease classically attributed to innate immune cell dysregulation. This study aimed to elucidate the role of innate lymphoid cells (ILCs), including natural killer (NK) cells and helper-ILCs (hILCs), in sJIA during clinically inactive disease (CID) through phenotypic and functional analysis.","PeriodicalId":129,"journal":{"name":"Arthritis & Rheumatology","volume":"123 1","pages":""},"PeriodicalIF":13.3,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143940323","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Classic Case of Linear IgA Bullous Dermatosis in a Child","authors":"Eduardo López-Vera, Jose A Llamas-Carmona, Juan S Rodríguez-Moncada","doi":"10.1002/art.43228","DOIUrl":"https://doi.org/10.1002/art.43228","url":null,"abstract":"Click on the article title to read more.","PeriodicalId":129,"journal":{"name":"Arthritis & Rheumatology","volume":"10 1","pages":""},"PeriodicalIF":13.3,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143940324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dietary polyunsaturated fatty acid and the risk of rheumatoid arthritis: Insights from genetic predisposition and proteomics","authors":"Li Chen, Tianqi Tan, Yashu Chen, Feipeng Cui, Huimin Chen, Ying Zhao, Yuhan Tang, Xia Xiang, Qianchun Deng","doi":"10.1002/art.43229","DOIUrl":"https://doi.org/10.1002/art.43229","url":null,"abstract":"To investigate the associations of polyunsaturated fatty acids (PUFAs) intakes with rheumatoid arthritis (RA) risk, alongside the role of genetic predisposition and the potential mediating effects of circulating proteins.","PeriodicalId":129,"journal":{"name":"Arthritis & Rheumatology","volume":"8 1","pages":""},"PeriodicalIF":13.3,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143940322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differences in dynamics of specific anti-nuclear antibodies and their susceptibility to B cell targeting treatment in Systemic Lupus Erythematosus","authors":"Hugo J. van Dooren, Mieke van Schaik, Annemarie L. Dorjée, Eline J. Arends, Meggan Mackay, Cooney Laura, David A. Fox, David Wofsy, Dawn Smilek, Cynthia Aranow, Maria Dall'Era, Tom W.J. Huizinga, Cees van Kooten, René E.M. Toes, Betty Diamond, Y.K. Onno Teng, Jolien Suurmond","doi":"10.1002/art.43219","DOIUrl":"https://doi.org/10.1002/art.43219","url":null,"abstract":"The presence of anti-nuclear antibodies (ANAs) is characteristic for systemic lupus erythematosus (SLE). Antibody dynamics over time are thought to reflect the cellular source of ANAs and their therapeutic targetability. Anti-dsDNA is the most prevalent and well-studied of all ANAs, and fluctuations in anti-dsDNA serum levels are associated with disease activity. Antibody dynamics of other ANAs, such as antibodies targeting RNA-binding proteins (RBPs), are often considered more stable compared to anti-dsDNA. However, anti-RBPs may be heterogeneous in nature and their fluctuation has not been extensively analysed. Therefore, we aimed to study the dynamics of the different ANAs and their susceptibility to B cell targeting treatments in SLE patients.","PeriodicalId":129,"journal":{"name":"Arthritis & Rheumatology","volume":"51 1","pages":""},"PeriodicalIF":13.3,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143940320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetics of Childhood-onset Systemic Lupus Erythematosus (cSLE).","authors":"Raffaella Carlomagno,Nicholas Gold,Fangming Liao,Jingjing Cao,Paul D Arnold,Christie L Burton,Jennifer Crosbie,Daniela Dominguez,Dafna D Gladman,Mariko Ishimori,Caroline Jefferies,Diane L Kamen,Sylvia Kamphuis,Marisa S Klein-Gitelman,Andrea M Knight,Chia-Chi J Lee,Deborah M Levy,Karen B Onel,Andrew D Paterson,Christine A Peschken,Janet E Pope,Russell J Schachar,Earl D Silverman,Lisa Strug,Zahi Touma,Murray B Urowitz,Daniel J Wallace,Cheng Wang,Declan Webber,Joan E Wither,Linda T Hiraki","doi":"10.1002/art.43227","DOIUrl":"https://doi.org/10.1002/art.43227","url":null,"abstract":"OBJECTIVESGenome wide association studies (GWAS) have identified >100 loci for systemic lupus erythematosus (SLE). These loci may also impact age of diagnosis. We aimed to identify genetic variants for age of SLE diagnosis, and to complete a GWAS of childhood-onset SLE (cSLE) diagnosed <18 years of age.METHODSPatients met ACR and/or SLICC SLE classification criteria, had documented age at diagnosis and were genotyped on multiethnic arrays. Ungenotyped SNPs and HLA alleles were imputed to multi-ethnic referents. Ancestry was genetically inferred. We tested known SLE loci (142 non-HLA, 166 HLA) with log-transformed age of SLE diagnosis, adjusted for sex and five PCs (significance threshold P<1.6x10-4). We also completed a GWAS of 346 cSLE patients and 4080 non-SLE children/adolescents of European and East Asian ancestry (genome-wide significance P<5x10-8).RESULTSWe included 1489 SLE patients, 51% cSLE, 88% female, 39% of European ancestry, 19% East Asian, 17% Admixed. The median age at diagnosis was 17.7 years (IQR:14.0, 30.9). One SLE risk SNP, intronic to CCDC113 (chr.16), was associated with younger age of SLE diagnosis (beta=-0.12, SE=0.03, P=6.3x10-6), and with cSLE versus adult-onset SLE (aSLE). GWAS of cSLE compared to non-SLE controls identified significant chr.6 SNP rs9268469, intronic to TSBP1-AS1 (OR=2.04, [95%CI: 1.59, 2.63], P=1.79x10-8), and HLA-DQA1.CONCLUSIONSWe identified a significant locus for younger age of SLE diagnosis, intronic to CCDC113, among a large multi-ancestral cohort of children and adults with SLE. In the first GWAS of cSLE we identified a TSBP1-AS1 locus, and an HLA-DQA1 previously identified for aSLE.","PeriodicalId":129,"journal":{"name":"Arthritis & Rheumatology","volume":"32 1","pages":""},"PeriodicalIF":13.3,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143945203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Achilles tendon involvement of juvenile xanthogranuloma.","authors":"Zhe Guo,Yi Yuan,Wenjing Li,Lan Li","doi":"10.1002/art.43232","DOIUrl":"https://doi.org/10.1002/art.43232","url":null,"abstract":"","PeriodicalId":129,"journal":{"name":"Arthritis & Rheumatology","volume":"42 1","pages":""},"PeriodicalIF":13.3,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143945205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reply to letter to the editor","authors":"Rongliang Wang, Wayne Yuk Wai Lee","doi":"10.1002/art.43230","DOIUrl":"https://doi.org/10.1002/art.43230","url":null,"abstract":"Click on the article title to read more.","PeriodicalId":129,"journal":{"name":"Arthritis & Rheumatology","volume":"142 1","pages":""},"PeriodicalIF":13.3,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143940274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Dynamics of ANA Production in SLE: New Insights for New Therapies","authors":"Martin Aringer, David S. Pisetsky","doi":"10.1002/art.43220","DOIUrl":"https://doi.org/10.1002/art.43220","url":null,"abstract":"Click on the article title to read more.","PeriodicalId":129,"journal":{"name":"Arthritis & Rheumatology","volume":"3 1","pages":""},"PeriodicalIF":13.3,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143940321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}