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Genetics of ankylosing spondylitis

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https://www.readbyqxmd.com/read/29754330/gender-differences-in-axial-spondyloarthritis-women-are-not-so-lucky
#1
REVIEW
T Rusman, R F van Vollenhoven, I E van der Horst-Bruinsma
PURPOSE OF REVIEW: Ankylosing spondylitis (AS) was historically seen as a predominantly male disease. However, more recent data showed a more homogenous sex prevalence. Unfortunately, in many studies in axial spondyloarthritis (axSpA), the number of women included is low and the analyses are often not stratified for gender distribution. The purpose of this review is to aggregate the existing data on gender differences in axSpA in order to increase the awareness that female axSpA patients are still under-recognized...
May 12, 2018: Current Rheumatology Reports
https://www.readbyqxmd.com/read/29752461/axial-disease-in-psoriatic-arthritis-and-ankylosing-spondylitis-a-critical-comparison
#2
REVIEW
Joy Feld, Vinod Chandran, Nigil Haroon, Robert Inman, Dafna Gladman
Ankylosing spondylitis (AS) was first identified in the late 17th century. 250 years later, inflammatory spine disease was recognized to be one of the patterns of psoriatic arthritis (PsA). Isolated spondylitis is rare among patients with PsA, occurring in less than 5% of patients; however, many patients with PsA have axial disease that is concurrent with peripheral arthritis. At the other end of the spondyloarthritis spectrum, psoriasis is observed in 10% of patients with AS. Although axial involvement in PsA can be indistinguishable from axial disease in AS, it can also differ in several respects, raising the question of whether axial PsA and AS (with or without psoriasis) are different clinical presentations of the same disease, or whether they are separate diseases that have overlapping features...
May 11, 2018: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/29741584/translating-gwas-in-rheumatic-disease-approaches-to-establishing-mechanism-and-function-for-genetic-associations-with-ankylosing-spondylitis
#3
Julie A Osgood, Julian C Knight
Ankylosing spondylitis (AS) is a highly heritable chronic inflammatory arthritis characterized by osteoproliferation, fusion of affected joints and systemic manifestations. Many disease associations for AS have been reported through genome-wide association studies; however, identifying modulated genes and functional mechanism remains challenging. This review summarizes current genetic associations involving AS and describes strategic approaches for functional follow-up of disease-associated variants. Fine mapping using methods leveraging Bayesian approaches are outlined...
May 5, 2018: Briefings in Functional Genomics
https://www.readbyqxmd.com/read/29702496/quantifying-the-genetic-risk-for-the-development-of-axial-spondyloarthropathy-could-this-become-a-diagnostic-tool
#4
Bryan P Wordsworth, Carla J Cohen, Matteo Vecellio
PURPOSE OF REVIEW: To assess the utility of recent genetic findings in ankylosing spondylitis (AS) and axial spondyloarthropathy (SpA) in relation to diagnostic testing, prognosis and responses to biologic treatment and the development of new therapies. RECENT FINDINGS: AS and other forms of SpA are polygenic with more than 100 genes contributing to disease susceptibility. The role of genes in determining the outcome of the disease and response to treatment is less clear...
April 26, 2018: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/29675891/association-of-the-hla-b27-antigen-and-the-ctla4-gene-ct60-rs3087243-polymorphism-with-ankylosing-spondylitis-in-algerian-population-a-case-control-study
#5
C A Dahmani, A Benzaoui, H Amroun, F Mecabih, F Z Sediki, F Zemani-Fodil, M Fodil, W Boughrara, B Mecheti, N Attal, N Mehtar, E Petit-Teixeira, A Boudjema
Ankylosing spondylitis (AS) is a complex inflammatory disease that represents a major health problem both in Algeria and worldwide. Several lines of evidence support that genetic risk factors play a role in AS etiology and the CTLA4 gene has attracted a considerable attention. In this study, we were interested in evaluating the HLA-B27 frequency and in exploring the CTLA4 gene in a sample of the North African population. The dataset of the current study is composed of 81 patients with AS and 123 healthy controls...
April 19, 2018: International Journal of Immunogenetics
https://www.readbyqxmd.com/read/29670461/role-of-interleukin-il-17-in-the-pathogenesis-and-targeted-therapies-in-spondyloarthropathies
#6
REVIEW
I-Tsu Chyuan, Ji-Yih Chen
Spondyloarthropathy (SpA) is a unique type of joint inflammation characterized by coexisting erosive bone damage and pathological new bone formation. Previous genetic association studies have demonstrated that several cytokine pathways play a critical role in the pathogenesis of ankylosing spondylitis (AS), psoriatic arthritis (PsA), and other types of SpA. In addition to several well-known proinflammatory cytokines, recent studies suggest that IL-17 plays a pivotal role in the pathogenesis of SpA. Further evidence from human and animal studies have defined that IL-17 and IL-17-producing cells contribute to tissue inflammation, autoimmunity, and host defense, leading to the following pathologic events associated with SpA...
2018: Mediators of Inflammation
https://www.readbyqxmd.com/read/29623390/the-role-of-genetics-and-epigenetics-in-rheumatic-diseases-are-they-really-a-target-to-be-aimed-at
#7
REVIEW
Masaru Kato, Shinsuke Yasuda, Tatsuya Atsumi
To date, numerous genetic and epigenetic studies have been performed and provided a crucial step forward in our understanding of the pathogenesis of rheumatic diseases. However, most of the recent advances in the treatment of rheumatic diseases including biological therapies are not based on or even discrepant from these genetic and epigenetic findings. For example, tumor necrosis factor inhibitors are quite successful in the treatment of rheumatoid arthritis (RA), Behçet's disease (BD), ankylosing spondylitis (AS) and psoriatic arthritis (PsA) but not in that of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), Sjögren's syndrome (SS) and antineutrophil cytoplasmic antibody-associated vasculitis (AAV), conversely, RA shares genetic backgrounds more with SLE, SSc, SS and AAV than BD, AS and PsA...
April 5, 2018: Rheumatology International
https://www.readbyqxmd.com/read/29595276/-axial-spondyloarthritis
#8
Leona Procházková, Vladimír Červeňák, Miroslav Souček
Axial spondyloarthritis (axSpA) is a common name for the non-radiographic form of the disease and radiographic axial spondyloarthritis, known as ankylosing spondylitis (AS). The disease is typically manifested at a young age, characterized by affection of axial skeleton, and in the most severe form can lead to complete ankylosis of the spine. Etiology of diseases have not yet been clarified, however, the genetic background, especially the binding to HLA-B27 antigen, is obvious. Clinical manifestations are dominated by chronic pain in the lower pain or buttocks that occurred in young age, in a large proportion of patients having the character of so-called inflammatory pain...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29579081/genetics-in-tnf-tnfr-pathway-a-complex-network-causing-spondyloarthritis-and-conditioning-response-to-anti-tnf%C3%AE-therapy
#9
Ada Aita, Daniela Basso, Roberta Ramonda, Stefania Moz, Mariagrazia Lorenzin, Filippo Navaglia, Carlo-Federico Zambon, Andrea Padoan, Mario Plebani, Leonardo Punzi
OBJECTIVES: We investigated whether polymorphisms (SNPs) in the promoter region of TNFA, or in the autoinflammatory TNFRSF1A and MEFV genes, concur with HLA-B27 in enhancing the risk of Spondyloarthritis (SpA) and/or in predicting the response to anti-TNFα treatment. METHODS: 373 controls and 137 SpA (82 with Psoriatic Arthritis-PsA and 55 with Ankylosing Spondylitis- AS; 98/137 under TNFα inhibitor therapy) from the Veneto Region (Italy) were studied. TNFA polymorphisms (-1031T>C;-857C>T;-376G>A;-308G>A;-238G>A) and HLA-B27 were assayed by RT-PCR...
2018: PloS One
https://www.readbyqxmd.com/read/29535371/the-severity-of-ankylosing-spondylitis-and-responses-to-anti-tumour-necrosis-factor-biologics-are-not-influenced-by-the-tumour-necrosis-factor-receptor-polymorphism-incriminated-in-multiple-sclerosis
#10
Laura Watts, Tugce Karaderi, Amity Roberts, Louise Appleton, Tom Wordsworth, Carla Cohen, Paul Wordsworth, Matteo Vecellio
Genetic polymorphism (rs1800693) of TNFRSF1A (type 1 tumour necrosis factor receptor) encodes a potentially anti-inflammatory soluble truncated form of the p55 receptor, which is associated with predisposition to multiple sclerosis but protection against ankylosing spondylitis (AS). We analysed 2917 UK Caucasian cases by linear and logistic regression for associations of rs1800693 with disease severity assessed by the Bath Ankylosing Spondylitis measures of disease activity and function (BASDAI, BAS-G and BASFI) and/or responses to anti-TNF therapy...
March 10, 2018: Genes and Immunity
https://www.readbyqxmd.com/read/29490353/association-of-long-noncoding-rnas-polymorphisms-with-ankylosing-spondylitis-vogt-koyanagi-harada-disease-and-behcet-s-disease
#11
Yingying Yue, Jun Zhang, Lu Yang, Shengyun Liu, Jian Qi, Qingfeng Cao, Chunjiang Zhou, Yao Wang, Aize Kijlstra, Peizeng Yang, Shengping Hou
Purpose: Long noncoding RNAs (lncRNAs) are emerging as important regulators of inflammatory immune responses, whereby genetic variants may affect this biologic function. This study aimed to investigate the association of 110 single nucleotide polymorphisms (SNPs) of lncRNAs, known to be associated with autoimmune disease, in patients with ocular Vogt-Koyanagi-Harada (VKH) disease, Behcet's disease (BD), and acute anterior uveitis (AAU) with or without ankylosing spondylitis (AS). Methods: A two-stage case-control study was performed on 1626 VKH patients, 384 BD patients, 624 AAU with AS, 751 AAU without AS, 720 AS without AAU, and 3305 healthy subjects...
February 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29460306/pathophysiology-of-axial-spondyloarthritis-consensus-and-controversies
#12
REVIEW
Anoek de Koning, Jan W Schoones, Desiree van der Heijde, Floris A van Gaalen
BACKGROUND: Axial spondyloarthritis (axSpA) is a common inflammatory arthritis of the sacroiliac joints and the spine. The best-known and most studied form of axSpA is ankylosing spondylitis. DESIGN: In this review, we provide a brief overview of the pathophysiology of axSpA. In addition, we performed a quantitative text analysis of reviews on the pathogenesis of axSpA published in the last 10 years to establish the current consensus in various fields of research into the pathogenesis of axSpA...
May 2018: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29430171/correlation-between-hla-haplotypes-and-the-development-of-antidrug-antibodies-in-a-cohort-of-patients-with-rheumatic-diseases
#13
Maurizio Benucci, Arianna Damiani, Francesca Li Gobbi, Francesca Bandinelli, Maria Infantino, Valentina Grossi, Mariangela Manfredi, Guillaume Noguier, Francesca Meacci
Introduction: The aim of this study was to investigate the correlation between human leukocyte antigen (HLA) haplotypes and the development of antidrug antibodies (ADAs) in a cohort of patients with rheumatic diseases. Patients and methods: We evaluated the presence of ADAs in 248 patients with inflammatory rheumatic diseases after 6 months of treatment with anti-TNF drugs: 26 patients were treated with infliximab (IFX; three with rheumatoid arthritis [RA], 13 with ankylosing spondylitis [AS], 10 with psoriatic arthritis [PsA]); 83 treated with adalimumab (ADA; 24 with RA, 36 with AS, 23 with PsA); 88 treated with etanercept (ETA; 35 with RA, 27 with AS, 26 with PsA); 32 treated with certolizumab (CERT; 25 with RA, two with AS, five with PsA); and 19 treated with golimumab (GOL; three with RA, seven with AS, nine with PsA)...
2018: Biologics: Targets & Therapy
https://www.readbyqxmd.com/read/29424312/association-of-il33-and-il1rap-polymorphisms-with-acute-anterior-uveitis
#14
X-F Huang, W Chi, D Lin, M-L Dai, Y-L Wang, Y-M Yang, Z-B Jin, Y Wang
BACKGROUND: AAU (acute anterior uveitis) is the most common entity of uveitis characterized by acute vision loss and violent sore eyes. IL-33 and IL-1RacP have been found to play crucial roles in the innate immune system. OBJECTIVE: In the present study, we investigated the association of IL33 and IL1RAP genes with AAU. METHOD: A total of 549 AAU patients and 1080 unrelated healthy controls were recruited for this study. Ten single nucleotide polymorphisms (SNPs) were genotyped using Sequenom Mass ARRAY technology...
March 9, 2018: Current Molecular Medicine
https://www.readbyqxmd.com/read/29415765/double-non-contiguous-fractures-in-a-patient-with-spondylo-epiphyseal-dysplasia-with-spinal-ankylosis-treated-with-open-and-percutaneous-spinal-fixation-technique-a-case-report
#15
Takahiro Ushijima, Kenichi Kawaguchi, Tadashi Matsumoto, Masaki Takagi, Tatsuro Kondoh, Gen Nishimura, Aritoshi Iida, Shiro Ikegawa, Nobuhiko Haga, Go Kato
BACKGROUND: Patients with ankylosing spines are susceptible to developing spinal fractures even with minor trauma and can develop early or late neurological injuries. These fractures require early and aggressive surgical management to enable spinal stability and/or neural decompression. Being highly unstable by nature, they require relatively long segment instrumentation and fusion, which can increase paravertebral soft tissue damage and perioperative bleeding. The purpose of this report is to describe a rare case of traumatic double fractures at the cervico-thoracic and thoraco-lumbar transition zones in ankylosing spine with spondylo-epiphyseal dysplasia (SED) of unknown cause, which were successfully treated with a combined open and percutaneous spinal fusion procedure...
February 7, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/29409751/the-role-of-gut-microbiota-and-il-23-il-17-pathway-in-ankylosing-spondylitis-immunopathogenesis-new-insights-and-updates
#16
REVIEW
Farhad Babaie, Milad Hasankhani, Hamed Mohammadi, Elham Safarzadeh, Alireza Rezaiemanesh, Reza Salimi, Behzad Baradaran, Zohreh Babaloo
Ankylosing spondylitis (AS) is a type of arthritis that is referred to a group of chronic immune-mediated inflammatory diseases termed as seronegative spondyloarthropathies or spondyloarthritides. It typically affects the joints of the spinal and axial skeleton and exhibits common clinical features and genetic factors such as human leukocyte antigen class I allele HLA-B27, the Endoplasmic Reticulum Aminopeptidase 1 (ERAP1), and environmental factors such as microbial triggers. Although the precise etiopathogenic mechanisms that implicate the pathogenesis of AS have still remained to be clarified, the IL-23/IL-17 immune axis has been detected as an important factor in the immunopathogenesis of AS...
April 2018: Immunology Letters
https://www.readbyqxmd.com/read/29397778/the-clinical-characteristics-of-kleine-levin-syndrome-according-to-ethnicity-and-geographic-location
#17
Saad M Al Shareef, Aljohara S Almeneessier, Richard M Smith, Ahmed S BaHammam
PURPOSE: Kleine-Levin syndrome (KLS) is a rare, relapsing-remitting, debilitating sleep disorder. Examining KLS characteristics in different ethnic populations may help elucidate the genetic basis of the disorder. No studies have examined KLS in Arabs. Therefore, we compared the clinical characteristics of Saudi Arabian KLS patients to those in other published cohorts to determine whether Arab patients have a distinct phenotype. METHODS: This study included all patients who were diagnosed with KLS at our center between June 2003 and July 2016 (P = 12; Six familial cases)...
February 20, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29393594/the-peptide-repertoire-of-hla-b27-may-include-ligands-with-lysine-at-p2-anchor-position
#18
Shira Yair-Sabag, Valentina Tedeschi, Carolina Vitulano, Eilon Barnea, Fabian Glaser, Dganit Melamed Kadosh, Joel D Taurog, Maria Teresa Fiorillo, Rosa Sorrentino, Arie Admon
The HLA-B*27 peptidome has drawn significant attention due to the genetic association between some of the HLA-B*27 alleles and the inflammatory rheumatic disease ankylosing spondylitis (AS), for which a comprehensive biological explanation is still lacking. This study aims to expand the known limits of the HLA-B*27 peptidome to facilitate selection and testing of new peptides, possibly involved in the disease. The HLA peptidomes of HeLa and C1R cell lines stably transfected with the AS-associated HLA-B*27:05 allele, the nonassociated HLA-B*27:09 allele, or their cysteine 67 to serine mutants (C67S), are analyzed on a very large scale...
February 2, 2018: Proteomics
https://www.readbyqxmd.com/read/29382608/metabolic-syndrome-autoimmunity-and-rheumatic-diseases
#19
REVIEW
Gabriela Medina, Olga Vera-Lastra, Ana Lilia Peralta-Amaro, María Pilar Jiménez-Arellano, Miguel Angel Saavedra, María Pilar Cruz-Domínguez, Luis J Jara
Metabolic syndrome (MetS) is a cluster of metabolic and cardiovascular (CV) risk factors including obesity and visceral adiposity, insulin resistance, dyslipidemia and hypertension contributing to CV mortality. The interface between the metabolic and immune systems has been of great interest recently. These interactions are regulated through genetics, nutritional status, and the intestinal microbiome. Alterations in the immune-metabolic cross-talk contribute to the development of autoimmune diseases. Adipokines exert a variety of metabolic activities contributing to the ethiopathogenesis of MetS and are involved in the regulation of both inflammatory processes and autoimmunity occurring in rheumatic diseases...
January 31, 2018: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/29377110/microrna-implications-in-the-etiopathogenesis-of-ankylosing-spondylitis
#20
REVIEW
Hamed Mohammadi, Maryam Hemmatzadeh, Farhad Babaie, Arezoo Gowhari Shabgah, Gholamreza Azizi, Fatemeh Hosseini, Jafar Majidi, Behzad Baradaran
Ankylosing spondylitis (AS) is a chronic immune-mediated inflammatory disease that affects both axial and peripheral skeletons as well as soft tissues. Recent investigations offer that disease pathogenesis is ascribed to a complex interplay of genetic, environmental, and immunological factors. Until now, there is no appropriate method for early diagnosis of AS and the successful available therapy for AS patients stay largely undefined. MicroRNAs (miRNAs), endogenous small noncoding RNAs controlling the functions of target mRNAs and cellular processes, are present in human plasma in a stable form and have appeared as possible biomarkers for activity, pathogenesis, and prognosis of the disease...
August 2018: Journal of Cellular Physiology
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