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Genetics of ankylosing spondylitis

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https://www.readbyqxmd.com/read/28938189/the-potent-suppressive-effect-of-%C3%AE-d-mannuronic-acid-m2000-on-molecular-expression-of-the-tlr-nf-kb-signaling-pathway-in-ankylosing-spondylitis-patients
#1
Maryam Roozbehkia, Mahdi Mahmoudi, Somaye Aletaha, Nima Rezaei, Mohammad Javad Fattahi, Fahimeh Jafarnezhad-Ansariha, Anis Barati, Abbas Mirshafiey
Ankylosing spondylitis (AS) is a chronic inflammatory rheumatic disease characterized by the inflammation of sacroiliac joints and axial skeleton. A combination of genetic, environmental and immunological factors are involved in AS's pathogenesis. TLRs are type I transmembrane glycoproteins that play a crucial role in the innate immune responses against invading pathogens. Observational studies have demonstrated a possible association between TLR dysregulation and AS. The β-d-mannuronic acid (M2000), as a novel NSAID with immunosuppressive property, has shown an inhibitory effect on Toll-like receptor (TLR) 2, 4 signaling in HEK293 cells...
September 19, 2017: International Immunopharmacology
https://www.readbyqxmd.com/read/28920498/an-update-on-biomarker-discovery-and-use-in-axial-spondyloarthritis
#2
Walter P Maksymowych
Evaluation of diagnosis, disease activity, and risk for joint damage all represent important unmet clinical needs in the management of axial spondyloarthritis that have been explored using biomarkers. Areas Covered: This review used the search terms biomarkers, ankylosing spondylitis, spondyloarthritis, spondyloarthropathy, pathogenesis, genetics, diagnostic tools, prognosis, to explore advances in biomarker development relevant to unmet clinical needs. Expert Commentary: Despite major advances in the identification of genetic risk markers, HLA-B*27 remains the only marker with clinical utility for diagnostic purposes...
September 16, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28914372/the-role-of-gut-microbiota-in-the-pathogenesis-of-rheumatic-diseases
#3
Danli Zhong, Chanyuan Wu, Xiaofeng Zeng, Qian Wang
Rheumatic diseases refer to many diseases with a loss of immune self-tolerance, leading to a chronic inflammation, degeneration, or metabolic derangement in multiple organs or tissues. The cause of rheumatic diseases remains to be elucidated, though both environmental and genetic factors are required for the development of rheumatic diseases. Over the past decades, emerging studies suggested that alteration of intestinal microbiota, known as gut dysbiosis, contributed to the occurrence or development of a range of rheumatic diseases, including rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis, systemic sclerosis, and Sjogren's syndrome, through profoundly affecting the balance between pro- and anti-inflammatory immune responses...
September 15, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28901420/bioinformatics-analysis-of-genetic-variants-of-endoplasmic-reticulum-aminopeptidase-1-in-ankylosing-spondylitis
#4
Xiaoli Wang, Jie Ma, Jianbing Ma, Yurong Wen, Liesu Meng, Hao Yang, Rui Zhang, Dingjun Hao
According to the results of the first genome-wide association study of ankylosing spondylitis (AS), endoplasmic reticulum aminopeptidase 1 (ERAP1) may serve an important role. However, a number of case-control studies have not been able to replicate this result using the same genetic markers. In the present study, the role of common genetic variants of ERAP1 in AS was investigated using two-stage bioinformatics analysis. In the first stage, a classical meta-analysis was performed to assess AS susceptibility markers in ERAP1 using data from available published case-control association studies...
August 31, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28879048/no-evidence-for-a-direct-role-of-hla-b27-in-pathological-bone-formation-in-axial-spa
#5
Barbara Neerinckx, Simon Kollnberger, Jacqueline Shaw, Rik Lories
OBJECTIVE: The strong genetic association between HLA-B27 and ankylosing spondylitis has been known for over 40 years. HLA-B27 positivity is possibly associated with severity of ankylosis. We studied the in vitro and in vivo impact of HLA-B27 in models of chondrogenesis and osteogenesis. METHODS: Different in vitro differentiation systems were used to mimic endochondral and direct bone formation. ATDC5 cells and primary human periosteum-derived cells (hPDCs) were transduced with lentiviral vectors expressing HLA-B27 or HLA-B7...
2017: RMD Open
https://www.readbyqxmd.com/read/28822009/urolithiasis-as-an-extraarticular-manifestation-of-ankylosing-spondylitis
#6
REVIEW
Cengiz Korkmaz, Döndü Üsküdar Cansu, John A Sayer
Ankylosing spondylitis (AS) affects sacroiliac and axial joints as well as extraarticular organs, such as the eye, lung, bowel, and heart. Although examples of renal involvement in AS, such as IgA nephropathy, amyloidosis, and glomerulonephritis, have been reported, it has not been emphasized that urolithiasis is frequently formed in the clinical course of AS. Growing evidence indicates that urolithiasis may be observed in AS patients and is more frequent than other extraarticular features. In this review, we will discuss frequency and predictors of AS-related urolithiasis and summarize the possible underlying genetic and biochemical mechanisms...
August 18, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28821532/cross-phenotype-association-mapping-of-the-mhc-identifies-genetic-variants-that-differentiate-psoriatic-arthritis-from-psoriasis
#7
John Bowes, James Ashcroft, Nick Dand, Farideh Jalali-Najafabadi, Eftychia Bellou, Pauline Ho, Helena Marzo-Ortega, Philip S Helliwell, Marie Feletar, Anthony W Ryan, David J Kane, Eleanor Korendowych, Michael A Simpson, Jonathan Packham, Ross McManus, Matthew A Brown, Catherine H Smith, Jonathan N Barker, Neil McHugh, Oliver FitzGerald, Richard B Warren, Anne Barton
OBJECTIVES: Psoriatic arthritis (PsA) is a chronic inflammatory arthritis, with a strong heritable component, affecting patients with psoriasis. Here we attempt to identify genetic variants within the major histocompatibility complex (MHC) that differentiate patients with PsA from patients with cutaneous psoriasis alone (PsC). METHODS: 2808 patients with PsC, 1945 patients with PsA and 8920 population controls were genotyped. We imputed SNPs, amino acids and classical HLA alleles across the MHC and tested for association with PsA compared to population controls and the PsC patient group...
August 18, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28819782/the-effects-of-%C3%AE-d-mannuronic-acid-m2000-as-a-novel-nsaid-on-cox1-and-cox2-activities-and-gene-expression-in-ankylosing-spondylitis-patients-and-the-murine-monocyte-macrophage-j774-cell-line
#8
Fahimeh Jafarnezhad-Ansariha, Mir Saeed Yekaninejad, Ahmad-Reza Jamshidi, Reza Mansouri, Mahdi Vojdanian, Mahdi Mahmoudi, Mohammad Javad Fattahi, Seyed Naser Hashemi, Bernd H A Rehm, Hidenori Matsuo, Emanuela Esposito, Salvatore Cuzzocrea, Abbas Mirshafiey
Ankylosing spondylitis (AS) is a debilitating chronic inflammatory disease with genetic predisposition, which is characterized by the involvement of spine and sacroiliac joints. Due to the relatively unsuccessful treatments, we designed β-D-mannuronic (M2000) with the beneficial effects in various experimental models as a novel non-steroidal anti-inflammatory drug (NSAID). The aims of our present study were: first, to compare the therapeutic effects of M2000, as a novel designed NSAID, with naproxen and placebo in Iranian patients with AS during 12 weeks; second, to evaluate the effect of M2000 on gene expression of cyclooxygenase enzyme (COX-1/COX-2), a key enzyme in the initiation of inflammatory pathways in AS patients; and third, to assess the activity of COX-1 and COX-2 enzymes in the presence/absence of M2000 at the different doses in the murine macrophage, J774 cell line...
August 17, 2017: Inflammopharmacology
https://www.readbyqxmd.com/read/28812990/human-leukocyte-antigen-c-12-02-02-and-killer-immunoglobulin-like-receptor-2dl5-are-distinctly-associated-with-ankylosing-spondylitis-in-the-taiwanese
#9
Chin-Man Wang, Sheng-Hung Wang, Yeong-Jian Jan Wu, Jing-Chi Lin, Jianming Wu, Ji-Yih Chen
Human leukocyte antigen (HLA) class I ligands and Killer immunoglobulin-like receptors (KIRs) regulate the cytolytic activity of natural killer (NK) cells and certain T cells. We examined their genetic predisposition to disease susceptibility and clinical phenotypes in Taiwanese ankylosing spondylitis (AS) patients. KIR genotyping and Human Leucocyte Antigen C (HLA-C) sequencing were performed in 653 Taiwanese AS patients and 952 healthy controls. KIR genotype distributions and HLA-C allele frequencies were compared in patients and controls and among patients with and without HLA-B27 positivity, early age onset and spinal syndesmophytes...
August 16, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28767437/rs2841277-pld4-is-associated-with-susceptibility-and-rs4672495-is-associated-with-disease-activity-in-rheumatoid-arthritis
#10
Wei-Chiao Chen, Wen-Chang Wang, Hsing-Fang Lu, 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...
July 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28743287/genome-wide-dna-methylation-profile-analysis-identifies-differentially-methylated-loci-associated-with-ankylosis-spondylitis
#11
Jiangcan Hao, Yang Liu, Jiawen Xu, Wenyu Wang, Yan Wen, Awen He, Qianrui Fan, Xiong Guo, Feng Zhang
BACKGROUND: Ankylosing spondylitis (AS) is a chronic rheumatic and autoimmune disease. Little is known about the potential role of DNA methylation in the pathogenesis of AS. This study was undertaken to explore the potential role of DNA methylation in the genetic mechanism of AS. METHODS: In this study, we compared the genome-wide DNA methylation profiles of peripheral blood mononuclear cells (PBMCs) between five AS patients and five healthy subjects, using the Illumina Infinium HumanMethylation450 BeadChip...
July 25, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28711142/genetics-and-the-causes-of-ankylosing-spondylitis
#12
REVIEW
Aimee Hanson, Matthew A Brown
Ankylosing spondylitis (AS) is a common inflammatory arthritis in which genetic factors are the primary determinants of disease risk and severity. Substantial progress has been made in identifying genetic pathways involved in the disease, and in translating those discoveries to drug discovery programs. Recently discovered novel disease pathways include those involved in control of DNA methylation, bacterial sensing, and mucosal immunity. Additional pathways are likely to be identified as a higher proportion of the genetic risk of AS is determined...
August 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/28667165/association-between-the-autophagy-related-gene-ulk1-and-ankylosing-spondylitis-susceptibility-in-the-chinese-han-population-a-case-control-study
#13
Xu Zhang, Renfang Han, Mengmeng Wang, Xiaona Li, Xiao Yang, Qing Xia, Rui Liu, Yaping Yuan, Xingxing Hu, Mengya Chen, Guangming Jiang, Yubo Ma, Jiajia Yang, Shengqian Xu, Jianhua Xu, Zongwen Shuai, Faming Pan
PURPOSE: Ankylosing spondylitis (AS), inflammatory bowel disease and Crohn's disease (CD) often coexist in the same patient and these diseases have remarkably strong overlaps in genetic association. The association between Unc51like kinase 1 (ULK1) gene polymorphisms and CD has been reported, and the aim of the current study was to investigate whether ULK1 polymorphisms are also associated with susceptibility to AS in the Chinese Han population. METHODS: Five tagging single nucleotide polymorphisms in the ULK1 gene (rs9652059, rs11616018, rs12303764, rs4964879 and rs7300908) were genotyped by the improved multiplex ligase detection reaction method in a cohort of patients with AS (n=649) and controls (n=628)...
June 30, 2017: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/28651467/erap1-and-hla-c-interaction-in-inflammatory-bowel-disease-in-the-spanish-population
#14
Patricia Castro-Santos, Marco Antonio Moro-García, Raquel Marcos-Fernández, Rebeca Alonso-Arias, Roberto Díaz-Peña
Large genome-wide analysis studies (GWAS) and meta-analyses have dramatically increased our knowledge of the genetic risk factors of inflammatory bowel disease (IBD), identifying at least 163 loci. The endoplasmic reticulum aminopeptidase-2 ( ERAP2) gene has been reported as a potential candidate gene for IBD. GWAS have also shown the potential associations between ERAP single nucleotide polymorphisms (SNP) loci and susceptibility to several autoimmune diseases, and ERAP1 and ERAP2 polymorphisms are related to HLA class I-associated diseases, including ankylosing spondylitis and Behçet's disease...
January 1, 2017: Innate Immunity
https://www.readbyqxmd.com/read/28638311/a-variant-in-runx3-is-associated-with-the-risk-of-ankylosing-spondylitis-in-koreans
#15
Sung-Min Cho, Seung-Hyun Jung, Yeun-Jun Chung
Ankylosing spondylitis (AS) is a chronic autoinflammatory disease that affects the spine and sacroiliac joints. Regarding its etiology, although HLA-B27 is known to be the strongest genetic factor of AS, much evidence suggests the potential contribution of non-MHC genes to the susceptibility to AS. Most of these non-MHC genes have been discovered in non-Asian populations; however, just some of them have been validated in Koreans. In this study, we aimed to identify additional AS-associated single-nucleotide polymorphism (SNP) candidates by replicating the candidate SNPs in Korean AS patients and healthy controls...
June 2017: Genomics & Informatics
https://www.readbyqxmd.com/read/28638241/oral-anaerobic-bacteria-in-the-etiology-of-ankylosing-spondylitis
#16
REVIEW
Mesut Öğrendik
Ankylosing spondylitis (AS) is associated with periodontitis. Anti-Porphyromonas gingivalis and anti-Prevotella intermedia antibody titers were higher in patients with spondyloarthritis than in healthy people. Sulfasalazine is an effective antibiotic treatment for AS. Moxifloxacin and rifamycin were also found to be significantly effective. The etiology hypothesis suggests that oral anaerobic bacteria such as Porphyromonas spp and Prevotella spp contribute to the disease. These bacteria have been identified in AS, and we will discuss their pathogenic properties with respect to our knowledge of the disease...
2017: Clinical Medicine Insights. Arthritis and Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28621304/epigenetic-and-gene-expression-analysis-of-ankylosing-spondylitis-associated-loci-implicate-immune-cells-and-the-gut-in-the-disease-pathogenesis
#17
Z Li, K Haynes, D J Pennisi, L K Anderson, X Song, G P Thomas, T Kenna, P Leo, M A Brown
Ankylosing spondylitis (AS) is a common immune-mediated arthropathy primarily affecting the spine and pelvis. Most AS patients have subclinical intestinal inflammation, suggesting the gut microbiome and the immune response play a role in pathogenesis. Susceptibility to AS is primarily genetic, and at least 114 susceptibility variants have been identified to date. We applied bioinformatic methods utilizing epigenetic and gene and protein expression data to identify the cell types through which AS-associated variants operate...
June 15, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28615730/pain-in-ankylosing-spondylitis-a-neuro-immune-collaboration
#18
REVIEW
Katayoon Bidad, Eric Gracey, Kasey S Hemington, Josiane C S Mapplebeck, Karen D Davis, Robert D Inman
Clinicians have commonly differentiated chronic back pain into two broad subsets: namely, non-inflammatory (or mechanical) back pain and inflammatory back pain. As the terminology suggests, the latter category, in which ankylosing spondylitis (AS) is prominent, presupposes a close link between pain and inflammation. Advances in research into the genetics and immunology of AS have improved our understanding of the inflammatory processes involved in this disease, and have led to the development of potent anti-inflammatory biologic therapeutic agents...
July 2017: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/28610765/tnf-%C3%AE-308-polymorphism-determines-clinical-manifestations-and-therapeutic-response-of-ankylosing-spondylitis-in-han-chinese
#19
Hai-Jun Ma, Qing-Feng Yin, Yin Wu, Ming-Hao Guo
BACKGROUND AND OBJECTIVE: There is ongoing debate as to whether tumor necrosis factor alpha (TNF-α)-308 is associated with ankylosing spondylitis (AS). The aim of the present study was to determine whether TNF-α-308 is involved into genetic susceptibility, clinical features and therapeutic response of AS in Han Chinese. METHODS: Two hundred and sixty AS patients with 260 ethnically matched healthy blood donors were enrolled into the present study. TNF-α-308 promoter polymorphism was identified using polymerase chain reaction amplification with restriction fragment length polymorphism assay...
June 10, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28569263/the-genetics-revolution-in-rheumatology-large-scale-genomic-arrays-and-genetic-mapping
#20
REVIEW
Stephen Eyre, Gisela Orozco, Jane Worthington
Susceptibility to rheumatic diseases, such as osteoarthritis, rheumatoid arthritis, ankylosing spondylitis, systemic lupus erythematosus, juvenile idiopathic arthritis and psoriatic arthritis, includes a large genetic component. Understanding how an individual's genetic background influences disease onset and outcome can lead to a better understanding of disease biology, improved diagnosis and treatment, and, ultimately, to disease prevention or cure. The past decade has seen great progress in the identification of genetic variants that influence the risk of rheumatic diseases...
July 2017: Nature Reviews. Rheumatology
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