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Genetics of ankylosing spondylitis

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
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
A de Koning, J W Schoones, D van der Heijde, F A van Gaalen
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. 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 ten years to establish the current consensus in various fields of research into the pathogenesis of axSpA. There appears to be broad consensus on genetic risk factors and the involvement of the immune system in the initiation phase of the disease although little consensus was found on which specific immune cells drive disease...
February 20, 2018: European Journal of Clinical Investigation
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
X F Huang, W Chi, D Lin, M L Dai, Y L Wang, Y M Yang, Z B Jin, Y Wang
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. In the present study, we investigated the association of IL33 and IL1RAP genes with AAU. 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. Our findings demonstrated that IL1RAP-rs3773978 significantly associated with AAU and could serve as a genetic risk marker in Chinese AAU patients...
February 7, 2018: Current Molecular Medicine
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
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...
February 2, 2018: Immunology Letters
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 Kleine-Levin syndrome 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;6 familial cases)...
February 3, 2018: International Journal of Neuroscience
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 non-associated HLA-B*27:09 allele, or their Cysteine 67 to Serine mutants (C67S), were analyzed on a very large scale...
February 2, 2018: Proteomics
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 27, 2018: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
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...
January 27, 2018: Journal of Cellular Physiology
Chen Zhang, Chen Wang, Zhenyu Jia, Wenwen Tong, Delin Liu, Chongru He, Xuan Huang, Weidong Xu
Ankylosing spondylitis (AS) is a chronic autoimmune disease characterized by systemic inflammation and pathological osteogenesis. However, the genetic etiology of AS remains largely unknown. This study aimed to explore the potential role of coding and noncoding genes in the genetic mechanism of AS. Using microarray analyses, this study comprehensively compared lncRNA, microRNA, and mRNA profiles in hip joint ligament tissues from patients with AS and controls. A total of 661 lncRNAs, 574 mRNAs, and 22 microRNAs were differentially expressed in patients with AS compared with controls...
December 26, 2017: Oncotarget
Zhixiu Li, Matthew A Brown
Ankylosing spondylitis (AS) is an immune-mediated arthritis which primarily affects the spine and sacroiliac joints. Significant progress has been made in discovery of genetic associations with AS by genome-wide association studies (GWAS) over past decade. These findings have uncovered novel pathways involved pathogenesis of the disease and have led to introduction of novel therapeutic treatments for AS. In this Review, we discuss the genetic variations associated with AS identified by GWAS, the major pathways revealed by these AS-associated variations and critical cell types involved in AS development...
December 2017: Clinical & Translational Immunology
Trixy David, Stephanie Ling, Anne Barton
Immune-mediated inflammatory diseases (IMIDs) are characterised by dysregulation of the normal immune response, which leads to inflammation. Together, they account for a high disease burden in the population, given that they are usually chronic conditions with associated co-morbidities. Examples include systemic lupus erythematosus, rheumatoid arthritis, Crohn's disease and type 1 diabetes. Since the advent of genome-wide association studies, evidence of considerable genetic overlap in the loci predisposing to a wide range of IMIDs has emerged...
January 12, 2018: Clinical and Experimental Immunology
Bin Yang, Junlong Zhang, Lixin Li, Xiaojun Lyu, Wei Wei, Zhuochun Huang, Bei Cai, Lanlan Wang
Ankylosing spondylitis (AS) is a common chronic autoimmune disease characterized by inflammation of axial skeleton and has strong genetic susceptibility. Single nucleotide polymorphisms (SNPs) have been found playing an important role in the development of AS. This study intends to explore whether the susceptibility to AS is associated with rs2171513 C>T, rs1077667 G>A in LIGHT (lymphotoxin, expressed on T lymphocytes) and rs12609318 A>G in B and T lymphocyte attenuator (BTLA) in a Chinese Han population...
October 31, 2017: Oncotarget
Renfang Han, Qing Xia, Shengqian Xu, Dazhi Fan, Faming Pan
BACKGROUND: The association between interleukin-23 receptor (IL23R) gene rs10889677 polymorphism and ankylosing spondylitis (AS) susceptibility was inconsistent in the recent literatures. A systematic review and meta-analysis was therefore performed. METHODS: Online electronic databases were searched for relevant studies published up to November 2017. Meta-analyses were performed for the comparisons of allele (A versus C) and multiple genetic models, including dominant, recessive, heterozygous, and homozygous models using fixed or random effects models...
February 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Rhonda Bohn, Maureen Cooney, Atul Deodhar, Jeffrey R Curtis, Amanda Golembesky
OBJECTIVES: The incidence and prevalence of axial spondyloarthritis (axSpA), including ankylosing spondylitis (AS) and non-radiographic (nr-)axSpA, have been investigated in multiple populations, though there is a paucity of population-level data. Here, we identify population-based studies in AS and nr-axSpA, and describe the methodologic challenges in conducting these, outlining potential reasons for disparate incidence and prevalence estimates. METHODS: PubMed and Embase were searched for population-based studies providing incidence and prevalence rates, published in English from 1 Jan 2000-30 Jun 2015...
November 14, 2017: Clinical and Experimental Rheumatology
Aimee L Hanson, Thomas Cuddihy, Katelin Haynes, Dorothy Loo, Craig J Morton, Udo Oppermann, Paul Leo, Gethin P Thomas, Kim-Anh Lê Cao, Tony J Kenna, Matthew A Brown
OBJECTIVE: The endoplasmic reticulum aminopeptidases ERAP1 and ERAP2, encoded on chromosome 5q15, trim endogenous peptides for human leukocyte antigen (HLA) mediated presentation to the immune system. Polymorphisms in ERAP1 and/or ERAP2 are strongly associated with several immune-mediated diseases with specific HLA backgrounds, implicating altered peptide handling and presentation as a prerequisite for autoreactivity against an arthritogenic peptide. Given the thorough characterisation of disease risk-associated polymorphisms that alter ERAP activity, this study aimed instead to interrogate the expression effect of chromosome 5q15 polymorphisms to determine their effect on ERAP isoform and protein expression...
November 6, 2017: Arthritis & Rheumatology
Bin Yang, Yuanwei Xu, Xinle Liu, Zhuochun Huang, Lanlan Wang
The association between the IL-23R and IL-17A polymorphisms and ankylosing spondylitis (AS) in the Southwest Chinese Population is still unclear. The purpose of this study is to detect the association between IL-23R and IL-17A polymorphisms and AS. A case-control study consisting of 486 AS patients and 480 healthy controls was performed. We used the high-resolution melting methods (HRM) to genotype five selected single nucleotide polymorphisms (SNPs), rs6693831, rs7517847, rs1884444, rs10889677 in the IL-23R gene and rs2275913 in the IL-17A gene...
September 19, 2017: Oncotarget
Wei-Chiao Chen, Wen-Chang Wang, Yukinori Okada, Wei-Pin Chang, Yii-Her Chou, Hui-Hua Chang, Jin-Ding Huang, Der-Yuan Chen, Wei-Chiao Chang
Rheumatoid arthritis (RA) is one of the most common autoimmune diseases, can lead to long-term joint damage, chronic pain, and loss of motor function in the hands, and may share some common genetic factors with other autoimmune disorders, such as ankylosing spondylitis (AS). Many single-nucleotide polymorphisms (SNPs) were reported by genome-wide association studies (GWASs) of RA, but some of them have not been examined in the Taiwanese population. In this study, for 15 SNPs reported in previous RA and AS GWASs, we investigated their association with RA in a Taiwanese population...
September 8, 2017: Oncotarget
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