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Genetics of ankylosing spondylitis

Gothic P Thomas, Dana Willner, Philip C Robinson, Adrian Cortes, Ran Duan, Martin Rudwaleit, Nurullah Akkoc, Jurgen Braun, Chung-Tei Chou, Walter P Maksymowych, Salih Ozgocmen, Euthalia Roussou, Joachim Sieper, Rafael Valle-Oñate, Desiree van der Heijde, James Wei, Paul Leo, Matthew A Brown
OBJECTIVES: Spondyloarthritis (SpA) is often diagnosed late in the course of the disease and improved methods for early diagnosis are required. We have tested the ability of genetic profiling to diagnose axial SpA (axSpA) as a whole group, or ankylosing spondylitis (AS) alone, in a cohort of chronic back pain patients. METHODS: 282 patients were recruited from centres in the United Kingdom, Germany, Taiwan, Canada, Columbia and Turkey as part of the ASAS classification criteria for axSpA study (ASAS cohort)...
October 7, 2016: Clinical and Experimental Rheumatology
Mohammad Reza Zamani, Saeed Aslani, Arash Salmaninejad, Mohammad Reza Javan, Nima Rezaei
Programmed death 1 (PD-1) and its ligands, namely PD-L1 and PD-L2, are one of the key factors responsible for inhibitory T cell signaling, mediating the mechanisms of tolerance and providing immune homeostasis. Mounting evidence demonstrates that impaired PD-1:PD-L function plays an important role in a variety of autoimmune diseases such as Type 1 diabetes (T1D), encephalomyelitis, inflammatory bowel diseases (IBD), Rheumatoid Arthritis (RA), autoimmune hepatitis (AIH), Behcet's disease (BD), myasthenia gravis (MG), autoimmune uveitis (AU), Sjögren's syndrome (SjS), systemic lupus erythematosus (SLE), systemic sclerosis (SSc), myocarditis, and ankylosing spondylitis (AS)...
September 15, 2016: Cellular Immunology
Tony J Kenna, Aimee Hanson, Mary-Ellen Costello, Matthew A Brown
Ankylosing spondylitis (AS) is a highly heritable disease for which there is a great unmet need for improved therapies. Genetics research has identified several major pathways involved in the disease, from which treatments have either now entered clinical practice or are in development. In particular, therapies targeting the IL-23 pathway were repositioned for use in AS following the discovery of multiple genes in the pathway as determinants of AS risk. Discovery of the association of aminopeptidase genes with AS, and subsequently with psoriasis, inflammatory bowel disease and other conditions, has triggered research into therapies targeting this pathway...
October 2016: Current Rheumatology Reports
Baris Gundogdu, Servet Yolbas, Ahmet Yildirim, Murat Gonen, Suleyman Serdar Koca
Ankylosing spondylitis (AS) is a systemic disease primarily characterized by the inflammation of sacroiliac joints and axial skeleton. Neurofibromatosis type 1 (NF1) is a multisystem genetic disease which is characterized by cutaneous findings, most importantly café-au-lait spots and axillary freckling, by skeletal dysplasia, and by the growth of both benign and malignant nervous system neoplasms, most notably benign neurofibromas. In this case report, we present a 43-year-old male with AS and NF1.
2016: Case Reports in Rheumatology
Wojciech Tański, Angelika Chachaj, Katarzyna Drożdż, Andrzej Szuba
BACKGROUND: Rheumatoid arthritis (RA) and ankylosing spondylitis (AS) are chronic connective tissue diseases. Inadequate treatment of RA and AS results in health failure, disability and premature death. In recent years, development of immunology and genetic engineering techniques has started a new generation of drugs in the treatment of RA and AS, called biologic response modifiers or biologics. It is a very effective therapy of serious RA and AS. In many cases, they represent the only way to improve the quality of life, slowing or even arresting the development of these diseases...
2016: Postȩpy Higieny i Medycyny Doświadczalnej
Xu Zhang, Wenyuan Ding
BACKGROUND Pentraxin 3 is considered to play an important role in immune and inflammatory reaction. This study aimed to detect the effect of pentraxin3 gene (PTX3) polymorphisms on ankylosing spondylitis (AS) risk. MATERIAL AND METHODS The genotyping of PTX3 polymorphisms in 101 AS patients and 93 controls was conducted by allelic discrimination assay and the genotype distribution was assessed for Hardy-Weinberg equilibrium (HWE). The differences of genotype, allele, haplotype, and some basic indexes were compared by χ2 test...
2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
José A López de Castro, Carlos Alvarez-Navarro, Ariadna Brito, Pablo Guasp, Adrian Martín-Esteban, Alejandro Sanz-Bravo
The inflammatory diseases that are most strongly associated with major histocompatibility Complex class I (MHC-I) alleles are also influenced by endoplasmic reticulum aminopeptidase (ERAP) 1 and/or 2, often in epistasis with the susceptibility MHC-I allele. This review will focus on the four major MHC-I-associated inflammatory disorders: ankylosing spondylitis, birdshot chorioretinopathy, Behçet's disease and psoriasis. The genetics of ERAP1/ERAP2 association and the alterations induced by polymorphism of these enzymes on the risk MHC-I allotypes will be examined...
September 2016: Molecular Immunology
Félicie Costantino, Alice Talpin, Roula Said-Nahal, Ariane Leboime, Elena Zinovieva, Diana Zelenika, Ivo Gut, Céline Charon, Brigitte Izac, Michael Weissman, Gilles Chiocchia, John Reveille, Maxime Breban, Henri-Jean Garchon
OBJECTIVE: More than 40 loci have been associated with ankylosing spondylitis (AS), but less is known about genetic associations in spondyloarthritis (SpA) as a whole. We conducted a family-based genome-wide association study (GWAS) to identify new non-major histocompatibility complex (MHC) genetic factors associated with SpA. METHODS: 906 subjects from 156 French multiplex families, including 438 with SpA, were genotyped using Affymetrix 250K microarrays. Association was tested with Unphased...
July 26, 2016: Annals of the Rheumatic Diseases
Jung Min Bae, Ji Yoon Choo, Ki-Jo Kim, Kyung-Su Park
OBJECTIVES: Tantalizing connections between autoimmune rheumatic diseases (ARDs) and inflammatory bowel disease (IBD) have become evident with regard to their genetic and immunologic background. However, the association between these two disease entities remains unclear. The aim of this study is to investigate the association between each ARD and IBD. METHODS: A nationwide population-based cross-sectional study was performed using the Korean National Health Insurance Claims database...
July 26, 2016: Modern Rheumatology
Mahdi Mahmoudi, Saeed Aslani, Mohammad Hossein Nicknam, Jafar Karami, Ahmad Reza Jamshidi
Ankylosing spondylitis (AS) is a chronic inflammatory autoimmune disease, characterized by typically an axial arthritis. AS is the prototype of a group of disorders called spondyloarthropathies, which is believed to have common clinical manifestations and genetic predisposition. To date, the exact etiology of AS remains unclear. Over the past few years, however, the role of genetic susceptibility and epigenetic modifications caused through environmental factors have been extensively surveyed with respect to the pathogenesis of AS, resulted in important advances...
July 18, 2016: Modern Rheumatology
Q F Wang, X F Huang, Z L Zheng, M L Dai, W J Cai, M M Yang, Z B Jin, Y Q Wang
PurposeCD59 complement regulator and complement factor H (CFH) have important roles in complement activation pathways, which are known to affect the development of uveitis. The present study was performed to investigate whether an association exists between CD59 and CFH genetic polymorphisms and acute anterior uveitis (AAU).MethodsA total of 600 individuals (300 patients diagnosed with AAU and 300 healthy controls) were recruited for this case-control study. Five single-nucleotide polymorphisms (SNPs) in CD59 (rs831626, rs12272807, rs831625, rs11585, and rs12576440) and CFH-rs1065489 were genotyped using Sequenom MassARRAY technology...
July 15, 2016: Eye
Jose Ramón Vidal-Castiñeira, Antonio López-Vázquez, Roberto Diaz-Peña, Paula Diaz-Bulnes, Pablo Martinez-Camblor, Eliecer Coto, Pablo Coto-Segura, Jacome Bruges-Armas, Jose Antonio Pinto, Francisco Jose Blanco, Alejandra Sánchez, Juan Mulero, Ruben Queiro, Carlos Lopez-Larrea
The aim of this study was to identify new genetic variants associated with the severity of ankylosing spondylitis (AS). We sequenced the exome of eight patients diagnosed with AS, selected on the basis of the severity of their clinical parameters. We identified 27 variants in exons and regulatory regions. The contribution of candidate variants found to AS severity was validated by genotyping two Spanish cohorts consisting of 180 cases/300 controls and 419 cases/656 controls. Relationships of SNPs and clinical variables with the Bath Ankylosing Spondylitis Disease Activity and Functional Indices BASDAI and BASFI were analyzed...
2016: PloS One
Meiyong Li, Xinling Guo, Qiannan Li, Chongge You
Objective To investigate the relationship between the genetic polymorphisms of apolipoprotein M (ApoM) and the susceptibility to rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and ankylosing spondylitis (AS) among Chinese Han population in Lanzhou. Methods Primers for the two single nucleotide polymorphism (SNP) sites (rs805296 and rs805297) in ApoM gene were designed and their genotyping methods of polymerase chain reaction-high resolution melting (PCR-HRM) assay were established. Case-control studies were performed among the 599 cases of RA, 194 cases of SLE, 179 cases of AS and 273 matched healthy controls to analyze the correlations between the two SNPs and the susceptibility to rheumatic diseases...
August 2016: Xi Bao Yu Fen Zi Mian Yi Xue za Zhi, Chinese Journal of Cellular and Molecular Immunology
Xinle Liu, Bin Yang, Lixin Li, Bei Cai, Yun Liao, Linhui Li, Zhiqiang Wu, Lanlan Wang
Ankylosing spondylitis (AS) is a highly heritable complex inflammatory arthritis disease. Genetic factors are thought to be crucial in the pathogenesis of AS. However, few data are available on the relationship between HLA-DP/DQ and STAT4 polymorphisms and AS susceptibility in the Chinese population. Therefore, we examined HLA-DP/DQ and STAT4 polymorphisms (rs3077, rs9277535, rs7453920 and rs7574865) in a total of 779 subjects, including 400 AS and 379 age- and sex-matched healthy controls in Chinese. No significant difference was observed between AS patients and healthy controls in the allele frequency of rs3077, rs9277535 and rs7574865...
October 2016: International Immunopharmacology
Raul Y Tito, Heleen Cypers, Marie Joossens, Gaëlle Varkas, Liesbet Van Praet, Elien Glorieus, Filip Van den Bosch, Martine De Vos, Jeroen Raes, Dirk Elewaut
BACKGROUND: Dysbiosis of the intestinal microbiota has been widely established in inflammatory bowel disease (IBD). There is significant clinical and genetic overlap between spondyloarthritis (SpA) and IBD. Importantly, up to half of all SpA patients exhibit microscopic signs of bowel inflammation, often bearing particular resemblance to early Crohn's disease, a subtype of IBD. OBJECTIVE: To assess the relation between intestinal microbial composition, gut histology and disease activity markers in SpA...
July 7, 2016: Arthritis & Rheumatology
Jean-Marc Victor, Gaëlle Debret, Annick Lesne, Leigh Pascoe, Pascal Carrivain, Gilles Wainrib, Jean-Pierre Hugot
BACKGROUND: Numerous genetic and environmental risk factors play a role in human complex genetic disorders (CGD). However, their complex interplay remains to be modelled and explained in terms of disease mechanisms. METHODS AND FINDINGS: Crohn's Disease (CD) was modeled as a modular network of patho-physiological functions, each summarizing multiple gene-gene and gene-environment interactions. The disease resulted from one or few specific combinations of module functional states...
2016: PloS One
Denis Wakefield, William Yates, Shahriar Amjadi, Peter McCluskey
Acute anterior uveitis (AAU) is the commonest type of uveitis and HLA-B27 AAU is the most frequently recognized type of acute anterior uveitis and anterior uveitis overall. Recent evidence indicates that acute anterior uveitis is a heterogenous disease, is polygenic and is frequently associated with the spondyloarthropathies (SpA). Studies of patients with AAU and animal models of disease indicate a role for innate immunity, the IL-23 cytokine pathway and exogenous factors, in the pathogenesis of both SpA and acute anterior uveitis...
August 2016: Ocular Immunology and Inflammation
X Cheng, Y Mei, X Ji, Q Xue, D Chen
The human leukocyte antigen HLA-B27 is directly involved in the disease pathogenesis of ankylosing spondylitis (AS). HLA-B27 has a high degree of genetic polymorphism, with 105 currently known subtypes; the presence of aspartic acid at residue 116 (Asp116) has been found to play an essential role in AS susceptibility. Here, we systematically investigated the molecular mechanism of the susceptibility difference between the AS-associated subtypes HLA-B*27:02/04/05 and AS-unassociated subtypes HLA-B*27:06/09 to AS at sequence, structure, energetic and dynamic levels...
May 2016: SAR and QSAR in Environmental Research
Darren D O'Rielly, Mohammed Uddin, Proton Rahman
PURPOSE OF REVIEW: This article discusses genomic investigations in ankylosing spondylitis (AS) beyond genome-wide association (GWA) studies, but prior to this, genetic variants achieving genome-wide significance will be summarized highlighting key pathways contributing to disease pathogenesis. RECENT FINDINGS: Evidence suggests that disease pathogenesis is attributed to a complex interplay of genetic, environmental and immunological factors. GWA studies have greatly enhanced our understanding of AS pathogenesis by illuminating distinct immunomodulatory pathways affecting innate and acquired immunity, most notably the interleukin-23/interleukin-17 pathway...
July 2016: Current Opinion in Rheumatology
Taco W Kuijpers, Sanne Vendelbosch, Merlijn van den Berg, Dominique L P Baeten
PURPOSE OF REVIEW: We focus on the role of killer immunoglobulin receptor (KIR) interactions with the human leukocyte antigens (HLA)-B27 ligand and the potential contribution of KIR-expressing natural killer and T cells in spondyloarthritis, more specifically in ankylosing spondylitis (AS). RECENT FINDINGS: In AS strong epidemiological evidence of significant genetic associations with the major histocompatibility complex was convincingly identified. HLA-B27-positive first-degree relatives of AS cases are 5-16 times more likely to develop disease than HLA-B27-positive carriers in the general community...
July 2016: Current Opinion in Rheumatology
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