62 results on '"Pimentel-Santos, Fernando M."'
Search Results
52. Additional file 3 of Whole blood transcriptional profiling in ankylosing spondylitis identifies novel candidate genes that might contribute to the inflammatory and tissue-destructive disease aspects
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Pimentel-Santos, Fernando M, Ligeiro, Dário, Matos, Mafalda, Mourão, Ana F, Costa, José, Santos, Helena, Barcelos, Anabela, Godinho, Fátima, Pinto, Patricia, Cruz, Margarida, Fonseca, João E, Guedes-Pinto, Henrique, Branco, Jaime C, Brown, Matthew A, and Thomas, Gethin P
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nutritional and metabolic diseases ,nervous system diseases ,3. Good health - Abstract
Additional file 3: Supplementary Table S3: Genes differentially expressed between AS patients and controls by microarrays. A total of 648 probes were considered significantly differentially expressed (80% confidence level of false discovery rate with 10% false positives). (PDF 88 KB)
53. Additional file 4 of Whole blood transcriptional profiling in ankylosing spondylitis identifies novel candidate genes that might contribute to the inflammatory and tissue-destructive disease aspects
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Pimentel-Santos, Fernando M, Ligeiro, Dário, Matos, Mafalda, Mourão, Ana F, Costa, José, Santos, Helena, Barcelos, Anabela, Godinho, Fátima, Pinto, Patricia, Cruz, Margarida, Fonseca, João E, Guedes-Pinto, Henrique, Branco, Jaime C, Brown, Matthew A, and Thomas, Gethin P
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Data_FILES ,3. Good health - Abstract
Authors’ original file for figure 1
54. Additional file of Whole blood transcriptional profiling in ankylosing spondylitis identifies novel candidate genes that might contribute to the inflammatory and tissue-destructive disease aspects
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Pimentel-Santos, Fernando M, Ligeiro, Dário, Matos, Mafalda, Mourão, Ana F, Costa, José, Santos, Helena, Barcelos, Anabela, Godinho, Fátima, Pinto, Patricia, Cruz, Margarida, Fonseca, João E, Guedes-Pinto, Henrique, Branco, Jaime C, Brown, Matthew A, and Thomas, Gethin P
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3. Good health - Abstract
Additional file of Whole blood transcriptional profiling in ankylosing spondylitis identifies novel candidate genes that might contribute to the inflammatory and tissue-destructive disease aspects
55. Additional file of Whole blood transcriptional profiling in ankylosing spondylitis identifies novel candidate genes that might contribute to the inflammatory and tissue-destructive disease aspects
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Pimentel-Santos, Fernando M, Ligeiro, Dário, Matos, Mafalda, Mourão, Ana F, Costa, José, Santos, Helena, Barcelos, Anabela, Godinho, Fátima, Pinto, Patricia, Cruz, Margarida, Fonseca, João E, Guedes-Pinto, Henrique, Branco, Jaime C, Brown, Matthew A, and Thomas, Gethin P
- Subjects
3. Good health - Abstract
Additional file of Whole blood transcriptional profiling in ankylosing spondylitis identifies novel candidate genes that might contribute to the inflammatory and tissue-destructive disease aspects
56. Additional file 1 of Whole blood transcriptional profiling in ankylosing spondylitis identifies novel candidate genes that might contribute to the inflammatory and tissue-destructive disease aspects
- Author
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Pimentel-Santos, Fernando M, Ligeiro, Dário, Matos, Mafalda, Mourão, Ana F, Costa, José, Santos, Helena, Barcelos, Anabela, Godinho, Fátima, Pinto, Patricia, Cruz, Margarida, Fonseca, João E, Guedes-Pinto, Henrique, Branco, Jaime C, Brown, Matthew A, and Thomas, Gethin P
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3. Good health - Abstract
Additional file 1: Supplementary Table S1: Characteristics of subjects involved in microarrays study. BASDAI, Bath Ankylosing Spondylitis Disease Activity Index; BASFI, Bath Ankylosing Spondylitis Functional Index; BASMI, Bath Ankylosing Spondylitis Metrology Index; mSASSS, modified Stoke Ankylosing Spondylitis Spinal Score. (PDF 7 KB)
57. Identification of clinical phenotypes of peripheral involvement in patients with spondyloarthritis, including psoriatic arthritis: a cluster analysis in the worldwide ASAS-PerSpA study
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DURUÖZ, MEHMET TUNCAY, Lopez-Medina, Clementina, Chevret, Sylvie, Molto, Anna, Sieper, Joachim, Duruoz, Tuncay, Kiltz, Uta, Elzorkany, Bassel, Hajjaj-Hassouni, Najia, Burgos-Vargas, Ruben, Maldonado-Cocco, Jose, Ziade, Nelly, Gavali, Meghna, Navarro-Compan, Victoria, Luo, Shue-Fen, Biglia, Alessandro, Tae-Jong, Kim, Kishimoto, Mitsumasa, Pimentel-Santos, Fernando M., Gu, Jieruo, Muntean, Laura, van Gaalen, Floris A., Geher, Pal, Magrey, Marina, Ibanez-Vodnizza, Sebastian E., Bautista-Molano, Wilson, Maksymowych, Walter, Machado, Pedro M., Landewe, Robert, van der Heijde, Desiree, and Dougados, Maxime
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ankylosing ,arthritis ,ANKYLOSING-SPONDYLITIS ,spondylitis ,CLASSIFICATION CRITERIA ,psoriatic - Abstract
Objective To identify clusters of peripheral involvement according to the specific location of peripheral manifestations (ie, arthritis, enthesitis and dactylitis) in patients with spondyloarthritis (SpA) including psoriatic arthritis (PsA), and to evaluate whether these clusters correspond with the clinical diagnosis of a rheumatologist. Methods Cross-sectional study with 24 participating countries. Consecutive patients diagnosed by their rheumatologist as PsA, axial SpA or peripheral SpA were enrolled. Four different cluster analyses were conducted: one using information on the specific location from all the peripheral manifestations, and a cluster analysis for each peripheral manifestation, separately. Multiple correspondence analyses and k-means clustering methods were used. Distribution of peripheral manifestations and clinical characteristics were compared across the different clusters. Results The different cluster analyses performed in the 4465 patients clearly distinguished a predominantly axial phenotype (cluster 1) and a predominantly peripheral phenotype (cluster 2). In the predominantly axial phenotype, hip involvement and lower limb large joint arthritis, heel enthesitis and lack of dactylitis were more prevalent. In the predominantly peripheral phenotype, different subgroups were distinguished based on the type and location of peripheral involvement: a predominantly involvement of upper versus lower limbs joints, a predominantly axial enthesitis versus peripheral enthesitis, and predominantly finger versus toe involvement in dactylitis. A poor agreement between the clusters and the rheumatologist's diagnosis as well as with the classification criteria was found. Conclusion These results suggest the presence of two main phenotypes (predominantly axial and predominantly peripheral) based on the presence and location of the peripheral manifestations.
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- 2021
58. The effects of physical exercise on axial spondyloarthritis - a systematic review.
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Pina Gonçalves N, Emília Santos M, Silvério-António M, Donato H, Pimentel-Santos FM, and Cruz E
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Aim: To collect and summarize the available scientific evidence that evaluates the effects of physical exercise interventions on axial spondyloarthritis (axSpA)., Methods: A systematic review was conducted in accordance to the guidance of Preferred Reporting Items for Systematic review and Meta-Analysis (PRISMA) to collect randomized controlled trials on the PubMed, Embase and Web of Science Core Collection databases. The search strategy included terms regarding physical exercise interventions targeted to axSpA participants and all of its variants in multiple combinations adapted to each one of the databases regarding its own special requirements. Several outcomes were defined: Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), Bath ankylosing spondylitis functional index (BASFI), Bath Ankylosing Spondylitis Metrology Index (BASMI), ASDAS (Ankylosing Spondylitis Disease Activity Score), C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), the 36-item short form health survey (SF-36) and the Ankylosing Spondylitis Quality of Life questionnaire (ASQoL). Two independent researchers screened the titles and abstracts followed by full-text analysis when suitable, using EndnoteTM online. Selected articles, according to exclusion/inclusion criteria defined, were submitted to data extraction and bias assessment was performed for each study's outcomes using the Cochrane risk-of-bias tool for randomized trials., Results: A total of 2063 articles were identified through the electronic databases search. After removal of duplicates, 1435 were eligible for screening, of which 45 articles went through full text evaluation. Only 24 articles met the inclusion/exclusion criteria. Physical exercise contributes for a statistically significant improvement of BASDAI in 13 studies, BASFI in 10, BASMI in 6, ASDAS in 3, CRP in 2, ESR in 1, SF-36 in 2 and ASQoL in 3.No major adverse effects were reported and an overall benefit was noted with the implementation of physical exercise as a treatment modality for axSpA., Conclusion: Physical exercise seems to be an effective non-pharmacological therapy for axSpA, with positive effects in disease activity, physical function, and quality of life.
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- 2023
59. ASAS-EULAR recommendations for the management of axial spondyloarthritis: 2022 update.
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Ramiro S, Nikiphorou E, Sepriano A, Ortolan A, Webers C, Baraliakos X, Landewé RBM, Van den Bosch FE, Boteva B, Bremander A, Carron P, Ciurea A, van Gaalen FA, Géher P, Gensler L, Hermann J, de Hooge M, Husakova M, Kiltz U, López-Medina C, Machado PM, Marzo-Ortega H, Molto A, Navarro-Compán V, Nissen MJ, Pimentel-Santos FM, Poddubnyy D, Proft F, Rudwaleit M, Telkman M, Zhao SS, Ziade N, and van der Heijde D
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- Humans, Anti-Inflammatory Agents, Non-Steroidal therapeutic use, Analgesics therapeutic use, Antirheumatic Agents therapeutic use, Spondylarthritis drug therapy, Spondylitis, Ankylosing drug therapy
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Objectives: To update the Assessment of SpondyloArthritis international Society (ASAS)-EULAR recommendations for the management of axial spondyloarthritis (axSpA)., Methods: Following the EULAR Standardised Operating Procedures, two systematic literature reviews were conducted on non-pharmacological and pharmacological treatment of axSpA. In a task force meeting, the evidence was presented, discussed, and overarching principles and recommendations were updated, followed by voting., Results: Five overarching principles and 15 recommendations with a focus on personalised medicine were agreed: eight remained unchanged from the previous recommendations; three with minor edits on nomenclature; two with relevant updates (#9, 12); two newly formulated (#10, 11). The first five recommendations focus on treatment target and monitoring, non-pharmacological management and non-steroidal anti-inflammatory drugs (NSAIDs) as first-choice pharmacological treatment. Recommendations 6-8 deal with analgesics and discourage long-term glucocorticoids and conventional synthetic disease-modifying antirheumatic drugs (DMARDs) for pure axial involvement. Recommendation 9 describes the indication of biological DMARDs (bDMARDs, that is, tumour necrosis factor inhibitors (TNFi), interleukin-17 inhibitors (IL-17i)) and targeted synthetic DMARDs (tsDMARDs, ie, Janus kinase inhibitors) for patients who have Ankylosing Spondylitis Disease Activity Score ≥2.1 and failed ≥2 NSAIDs and also have either elevated C reactive protein, MRI inflammation of sacroiliac joints or radiographic sacroiliitis. Current practice is to start a TNFi or IL-17i. Recommendation 10 addresses extramusculoskeletal manifestations with TNF monoclonal antibodies preferred for recurrent uveitis or inflammatory bowel disease, and IL-17i for significant psoriasis. Treatment failure should prompt re-evaluation of the diagnosis and consideration of the presence of comorbidities (#11). If active axSpA is confirmed, switching to another b/tsDMARD is recommended (#12). Tapering, rather than immediate discontinuation of a bDMARD, can be considered in patients in sustained remission (#13). The last recommendations (#14, 15) deal with surgery and spinal fractures., Conclusions: The 2022 ASAS-EULAR recommendations provide up-to-date guidance on the management of patients with axSpA., Competing Interests: Competing interests: SR received research grants from AbbVie, Galapagos, Novartis, Pfizer and UCB, and consulting fees from AbbVie, Eli Lilly, Novartis, MSD, Pfizer, UCB and Sanofi. EN has received speaker honoraria/participated in advisory boards for Celltrion, Pfizer, Sanofi, Gilead, Galapagos, AbbVie, and Lilly, and holds research grants from Pfizer and Lilly. AS has received speaker/consulting fees from UCB and Novartis. AO has nothing to declare. CW has nothing to declare. XB received consulting fees and research grants from AbbVie, BMS, Eli Lilly, Galapagos, Janssen, MSD, Novartis, Pfizer, Roche, Sandoz, Sanofi and UCB. XB is an editorial board member of Annals of Rheumatic Diseases. RBML received consulting fees from AbbVie, Bristol Myers Squibb, Celgene, Jansen, Galapagos, GlaxoSmithKline, Novartis, Pfizer, and UCB, and is director of Rheumatology Consultancy. FEVdB received consulting and/or speaker fees from AbbVie, Amgen, Eli Lilly, Galapagos, Janssen, MoonLake, Novartis, Pfizer and UCB. BB has nothing to declare. AB has nothing to declare. PC received consulting/speaker’s fees from Eli Lilly, Pfizer, AbbVie, Sanofi, Galapagos, Fresenius Kabi, Biogen, MSD, UCB and Novartis. AC received honoraria for lectures from AbbVie, Merck Sharp & Dohme and Novartis. FAvG received grants from Stichting ASAS, and consulting/speaker’s fees from Novartis, UCB, Pfizer, AbbVie, Eli Lilly, Bristol Myers Squibb and Celgene. PG received speaker’s fees from AbbVie. LG received consulting fees and research grants from AbbVie, Eli Lilly, Galapagos, Janssen, MoonLake, Novartis, Pfizer and UCB. JH has received speaker honoraria and participated in advisory boards for AbbVie, Lilly, Novartis and Janssen. MdH has nothing to declare. MH has received speaker’s fees from Novartis. UK has received grant and research support and consultancy fees from AbbVie, Amgen, Biocad, Biogen, Chugai, Eli Lilly, Fresenius, Gilead, Grünenthal, GSK, Janssen, MSD, Novartis, Pfizer, Roche and UCB. CL-M has received speaker/consulting fees from UCB, Novartis, Janssen, Eli Lilly, MSD and AbbVie. PMM has received honoraria from AbbVie, BMS, Celgene, Eli Lilly, Galapagos, Janssen, MSD, Novartis, Orphazyme, Pfizer, Roche, and UCB, and is supported by the National Institute for Health Research (NIHR) University College London Hospitals (UCLH) Biomedical Research Centre (BRC). HM-O received grants from Janssen, Novartis and UCB, and consultancy/speaker's fees from AbbVie, Biogen, Eli Lilly, Janssen, MoonLake, Novartis, Pfizer and UCB. AM received research grants from UCB and consulting fees from AbbVie, Biogen, BMS, Eli Lilly, Gilead, Novartis, MSD, Pfizer and UCB. VN-C received grants/honoraria from AbbVie, Galapagos, Janssen, Lilly, MoonLake, Novartis, Pfizer and UCB. MJN received grant from Novartis and consultancy/speaker's fees from AbbVie, Eli Lilly, Janssen, Novartis and Pfizer. FMP-S received research grants from AbbVie, Janssen, and Novartis, and consulting fees from AbbVie, Bial, Biogen, Eli Lilly, Janssen, MSD, Novartis, Pfizer, Pharma Kern, UCB and Tecnimed. DP received research support from AbbVie, Eli Lilly, MSD, Novartis, and Pfizer, and consulting fees from AbbVie, Biocad, Eli Lilly, Galapagos, Gilead, GlaxoSmithKline, Janssen, MSD, MoonLake, Novartis, Pfizer, Samsung Bioepis, and UCB, and speaker's fees from AbbVie, Bristol Myers Squibb, Eli Lilly, Janssen, MSD, Medscape, Novartis, Peervoice, Pfizer and UCB. FP reports grants and personal fees from Novartis, Lilly and UCB, and personal fees from AbbVie, Amgen, BMS, Celgene, Janssen, Hexal, MSD, Pfizer and Roche. MR received consulting fees from AbbVie, Janssen, Eli Lilly, Novartis, Pfizer and UCB Pharma. MT has nothing to declare. SSZ has received consulting fees from UCB. NZ received research grants from AbbVie, Celgene, NewBridge and Pfizer; consulting fees from AbbVie, Eli Lilly, Pfizer, Gilead, Janssen, Novartis, NewBridge and Roche; and speaker's fees from AbbVie, Apotex, Eli Lilly, Janssen, Novartis, Pfizer, Pierre Fabre, Pharmaline, Roche and Sanofi-Aventis. DvdH received consulting fees from AbbVie, Bayer, BMS, Cyxone, Eisai, Galapagos, Gilead, GlaxoSmithKline, Janssen, Lilly, Novartis, Pfizer and UCB Pharma, and is director of Imaging Rheumatology., (© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2023
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60. The role of muscle in the susceptibility and progression of axial Spondyloarthritis: The MyoSpA Study Protocol.
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Sardoo AM, Neto A, Pinheiro Torres R, Rodrigues-Manica S, Domingues L, Lage Crespo C, Lagoas-Gomes J, Mascarenhas V, Mendes CS, Galzerano A, Fernandes de Almeida S, Sepriano A, Ramiro S, Masi AT, Nair K, Costa J, Alexandre BM, Vassilevskaia T, Cunha CV, Sobral D, Branco JC, Gomes-Alves P, and Pimentel-Santos FM
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- Adolescent, Adult, Animals, Cross-Sectional Studies, Humans, Mice, Middle Aged, Muscles, Young Adult, Axial Spondyloarthritis, Spondylarthritis, Spondylitis, Ankylosing
- Abstract
Background: Axial Spondyloarthritis (axSpA) is a chronic, inflammatory rheumatic disease that affects the axial skeleton, causing pain, stiffness, and fatigue. Genetics and environmental factors such as microbiota and microtrauma are known causes of disease susceptibility and progression. Murine models of axSpA found a decisive role for biomechanical stress as an inducer of enthesitis and new bone formation. Here, we hypothesize that muscle properties in axSpA patients are compromised and influenced by genetic background., Objectives: To improve our current knowledge of axSpA physiopathology, we aim to characterize axial and peripheral muscle properties and identify genetic and protein biomarker that might explain such properties., Methods: A cross-sectional study will be conducted on 48 participants aged 18-50 years old, involving patients with axSpA (according to ASAS classification criteria, symptoms duration < 10 years) and healthy controls matched by gender, age, and levels of physical activity. We will collect epidemiological and clinical data and perform a detailed, whole body and segmental, myofascial characterization (focusing on multifidus, brachioradialis and the gastrocnemius lateralis) concerning: a) Physical Properties (stiffness, tone and elasticity), assessed by MyotonPRO®; b) Strength, by a dynamometer; c) Mass, by bioimpedance; d) Performance through gait speed and 60-second sit-to-stand test; e) Histological and cellular/ molecular characterization through ultrasound-guided biopsies of multifidus muscle; f) Magnetic Resonance Imaging (MRI) characterization of paravertebral muscles. Furthermore, we will perform an integrated transcriptomics and proteomics analysis of peripheral blood samples., Discussion: The innovative and multidisciplinary approaches of this project rely on the elucidation of myofascial physical properties in axSpA and also on the establishment of a biological signature that relates to specific muscle properties. This hitherto unstudied link between gene/protein signatures and muscle properties may enhance our understanding of axSpA physiopathology and reveal new and useful diagnostic and therapeutic targets.
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- 2021
61. Translation and cross-cultural adaptation of the ASAS Health Index and ASAS Environmental Factors Item Set into European Portuguese Language.
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Cruz EB, Ramiro S, Machado P, Sousa S, Aguiar R, Sepriano A, Manica SR, Kiltz U, Branco JC, and Pimentel-Santos FM
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- Adult, Cultural Characteristics, Female, Humans, Language, Male, Middle Aged, Portugal, Translations, Young Adult, Diagnostic Self Evaluation, Health Status Indicators, Quality of Life, Spondylarthritis diagnosis
- Abstract
Objective: There is a lack of outcome measures to assess the impact of axial spondyloarthritis (axSpA) on health, function and quality of life. The Assessment of SpondyloArthritis International Society (ASAS) group developed the ASAS Health Index (ASAS-HI) and the ASAS Environmental Factors Item Set (ASAS-EF) to measure functioning and health across all aspects of health that are typically affected and relevant for patients with axSpA, based on the International Classification of Functioning, Disability and Health (ICF). The aim of this paper was to describe the translation and cross-cultural adaptation of both questionnaires into European Portuguese among patients with radiographic and non-radiographic axial SpA (nr-axSpA) and test the conceptual equivalence of the translated version in the Portuguese context., Material and Methods: The ASAS-HI and ASAS-EF were firstly translated into European Portuguese and then back-translated into English, following forward-backward procedure. After the review of the Portuguese version by an expert committee, the field test with cognitive debriefing involved a sample of 10 axSpA patients with different gender, age, disease duration, and educational background., Results: Minor difficulties arose from the translation process of the ASAS-HI. The EF Item Set offered more difficulties indicating that concepts underlying the contextual factors may be more culture-dependent. A total of 10 patients with axSpA [8 males, mean age of 41.4 (±13.7)] participated in the field test. Cognitive debriefing showed that items of the ASAS-HI and EF Item Set of the Portuguese version are clear, relevant, understandable and easy to complete. As a result of cognitive debriefing, the wording of four items had to be changed to avoid misunderstandings or unintended interpretations, and a new response option "not applicable" was added to two items of the ASAS-HI to improve appropriateness., Conclusions: The resulting Portuguese version of the ASAS-HI and ASAS-EF showed acceptable linguistic validity and has potential for use in both clinical practice and research settings. Nevertheless, before European Portuguese versions can be fully implemented, its psychometric properties (validity and reliability) need to be evaluated.
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- 2017
62. Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.
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Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, Leo P, Cremin K, Pryce K, Harris J, Lee S, Joo KB, Shim SC, Weisman M, Ward M, Zhou X, Garchon HJ, Chiocchia G, Nossent J, Lie BA, Førre Ø, Tuomilehto J, Laiho K, Jiang L, Liu Y, Wu X, Bradbury LA, Elewaut D, Burgos-Vargas R, Stebbings S, Appleton L, Farrah C, Lau J, Kenna TJ, Haroon N, Ferreira MA, Yang J, Mulero J, Fernandez-Sueiro JL, Gonzalez-Gay MA, Lopez-Larrea C, Deloukas P, Donnelly P, Bowness P, Gafney K, Gaston H, Gladman DD, Rahman P, Maksymowych WP, Xu H, Crusius JB, van der Horst-Bruinsma IE, Chou CT, Valle-Oñate R, Romero-Sánchez C, Hansen IM, Pimentel-Santos FM, Inman RD, Videm V, Martin J, Breban M, Reveille JD, Evans DM, Kim TH, Wordsworth BP, and Brown MA
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- Alleles, Case-Control Studies, DNA Mutational Analysis methods, Genetic Predisposition to Disease ethnology, Genome-Wide Association Study methods, Genotype, Genotyping Techniques methods, HLA-B27 Antigen genetics, High-Throughput Nucleotide Sequencing, Humans, Risk Factors, Spondylitis, Ankylosing ethnology, Spondylitis, Ankylosing immunology, Genetic Loci immunology, Genetic Predisposition to Disease genetics, Immune System Phenomena genetics, Polymorphism, Single Nucleotide, Spondylitis, Ankylosing genetics
- Abstract
Ankylosing spondylitis is a common, highly heritable inflammatory arthritis affecting primarily the spine and pelvis. In addition to HLA-B*27 alleles, 12 loci have previously been identified that are associated with ankylosing spondylitis in populations of European ancestry, and 2 associated loci have been identified in Asians. In this study, we used the Illumina Immunochip microarray to perform a case-control association study involving 10,619 individuals with ankylosing spondylitis (cases) and 15,145 controls. We identified 13 new risk loci and 12 additional ankylosing spondylitis-associated haplotypes at 11 loci. Two ankylosing spondylitis-associated regions have now been identified encoding four aminopeptidases that are involved in peptide processing before major histocompatibility complex (MHC) class I presentation. Protective variants at two of these loci are associated both with reduced aminopeptidase function and with MHC class I cell surface expression.
- Published
- 2013
- Full Text
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