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Genetics of ankylosing spondylitis

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https://www.readbyqxmd.com/read/28276258/an-interleukin-12-b-single-nucleotide-polymorphism-increases-il-12p40-production-and-is-associated-with-increased-disease-susceptibility-in-patients-with-relapsing-remitting-multiple-sclerosis
#1
Mohammad Reza Javan, Sarieh Shahraki, Amin Safa, Mohammad Reza Zamani, Arash Salmaninejad, Saeed Aslani
BACKGROUND: Through mounting genetic investigations, it has been established that IL12B and IL23R gene single nucleotide polymorphisms have significant associations with autoimmune diseases including inflammatory bowel disease, psoriasis, and ankylosing spondylitis. IL-12/IL-23 pathway plays a pivotal role in etiopathogenesis of multiple sclerosis (MS), suggested by studies both in patients and animal models. METHODS: In a case-control study, 145 MS patients and 200 healthy subjects were genotyped for polymorphisms in IL12B and IL23R genes using Real-Time PCR allelic discrimination approach...
March 9, 2017: Neurological Research
https://www.readbyqxmd.com/read/28270233/mechanistic-rationales-for-targeting-interleukin-17a-in-spondyloarthritis
#2
REVIEW
Siba P Raychaudhuri, Smriti K Raychaudhuri
The term spondyloarthritis (SpA) is used to describe a group of inflammatory autoimmune diseases, including ankylosing spondylitis and psoriatic arthritis, with common genetic risk factors and clinical features. SpA is clinically distinct from rheumatoid arthritis and typically affects the spine, sacroiliac joints, entheses, and, less commonly, peripheral joints. Although the pathogenesis of SpA is not fully understood, recent findings have identified the interleukin (IL)-17 pathway as a key mediator of disease pathogenesis...
March 8, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28248857/correlations-of-cyp2c9-3-cyp2d6-10-cyp3a5-3-gene-polymorphisms-with-efficacy-of-etanercept-treatment-for-patients-with-ankylosing-spondylitis-a-case-control-study
#3
Yuan-Yuan Chen
BACKGROUND: The tumor necrosis factor alpha (TNF-α) inhibitor etanercept has been proven to be effective in the treatment of ankylosing spondylitis (AS), while genetic polymorphism may affect drug metabolism or drug receptor, resulting in interindividual variability in drug disposition and efficacy. The purpose of this study is to investigate the correlations between CYP2C9*3/CYP2D6*10/CYP3A5*3 gene polymorphisms and the efficacy of etanercept treatment for patients with AS. METHODS: From March 2012 to June 2015, 312 AS patients (174 males and 138 females, mean age: 35...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28247302/an-update-on-the-genetic-polymorphism-of-hla-b-27-with-213-alleles-encompassing-160-subtypes-and-still-counting
#4
REVIEW
Muhammad A Khan
PURPOSE OF REVIEW: This publication updates an earlier review on the ever increasing knowledge about genetic polymorphism of HLA-B*27 and discusses its clinical relevance. RECENT FINDINGS: As of January 1, 2017, there are 213 known alleles of HLA-B*27 at nucleotide sequence level, while at the translated protein level, there are 160 known subtypes based on one or more amino acid sequence differences. Some of these subtypes exhibit differential association with ankylosing spondylitis, and there may even be some level of hierarchy in this regard...
February 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28188227/the-hla-b27-peptidome-in-vivo-in-spondyloarthritis-susceptible-hla-b27-transgenic-rats-and-the-effect-of-erap1-deletion
#5
Eilon Barnea, Dganit Melamed Kadosh, Yael Haimovich, Nimman Satumtira, Martha L Dorris, Mylinh T Nguyen, Robert E Hammer, Tri M Tran, Robert A Colbert, Joel D Taurog, Arie Admon
HLA-B27 is a class I major histocompatibility (MHC-I) allele that confers susceptibility to the rheumatic disease ankylosing spondylitis (AS) by an unknown mechanism. ERAP1 is an aminopeptidase that trims peptides in the endoplasmic reticulum for binding to MHC-I molecules. ERAP1 shows genetic epistasis with HLA-B27 in conferring susceptibility to AS. Male HLA-B27 transgenic rats develop arthritis and serve as an animal model of AS, whereas female B27 transgenic rats remain healthy. We used large-scale quantitative mass-spectrometry to identify over 15,000 unique HLA-B27 peptide ligands, isolated after immunoaffinity purification of the B27 molecules from the spleens of HLA-B27 transgenic rats...
February 10, 2017: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/28151874/single-nucleotide-polymorphisms-of-abcb1-gene-and-response-to-etanercept-treatment-in-patients-with-ankylosing-spondylitis-in-a-chinese-han-population
#6
Rui-Jian Yan, Ting-Ting Lou, Yi-Fang Wu, Wei-Shan Chen
BACKGROUND: Etanercept was highly recommended for patients with ankylosing spondylitis (AS), as its efficacy has been confirmed in AS, while genetic polymorphisms, by affecting drug metabolism or drug receptor, lead to interindividual variability in drug disposition and efficacy. Therefore, this study aims to investigate whether ABCB1 gene polymorphisms can predict therapeutic response to etanercept in patients with AS. METHODS: A total of 185 patients with AS in our hospital were recruited into our study from December 2012 to May 2015...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28110981/axial-spondyloarthritis
#7
REVIEW
Joachim Sieper, Denis Poddubnyy
The term axial spondyloarthritis covers both patients with non-radiographic and radiographic axial spondyloarthritis, which is also termed ankylosing spondylitis. The disease usually starts in the third decade of life with a male to female ratio of two to one for radiographic axial spondyloarthritis and of one to one for non-radiographic axial spondyloarthritis. More than 90% heritabilty has been estimated, the highest genetic association being with HLA-B27. The pathogenic role of HLA-B27 is still not clear although various hypotheses are available...
January 19, 2017: Lancet
https://www.readbyqxmd.com/read/28054948/rs657075-csf2-is-associated-with-the-disease-phenotype-bas-g-of-ankylosing-spondylitis
#8
Wei-Chiao Chen, James Cheng-Chung Wei, Hsing-Fang Lu, Henry Sung-Ching Wong, Peng Yeong Woon, Yu-Wen Hsu, Jin-Ding Huang, Wei-Chiao Chang
Ankylosing spondylitis (AS) is a systemic autoimmune disease mainly affecting the lumbar spine and sacroiliac joints, and exhibits peripheral inflammatory arthropathy. More than 25 loci have been identified as associated with AS. Because both AS and rheumatoid arthritis (RA) are autoimmune diseases that may share some common genetic factors, we therefore examined if the newly identified RA genetic polymorphisms were associated with AS in a Taiwanese population. In this study, we enrolled 475 AS patients and 11,301 healthy subjects from a Taiwanese biobank as controls...
January 3, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28049827/erap1-association-with-ankylosing-spondylitis-is-attributable-to-common-genotypes-rather-than-rare-haplotype-combinations
#9
Amity R Roberts, Louise H Appleton, Adrian Cortes, Matteo Vecellio, Jonathan Lau, Laura Watts, Matthew A Brown, Paul Wordsworth
We investigated the proposal that ankylosing spondylitis (AS) is associated with unusual ERAP1 genotypes. ERAP1 haplotypes were constructed for 213 AS cases and 46 rheumatoid arthritis controls using family data. Haplotypes were generated from five common ERAP1 single nucleotide polymorphisms (SNPs)-rs2287987 (M349V), rs30187 (K528R), rs10050860 (D575N), rs17482078 (R725Q), and rs27044 (Q730E). Haplotype frequencies were compared using Fisher's exact test. ERAP1 haplotypes imputed from the International Genetics of AS Consortium (IGAS) Immunochip study were also studied...
January 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28031552/autophagy-related-irgm-genes-confer-susceptibility-to-ankylosing-spondylitis-in-a-chinese-female-population-a-case-control-study
#10
Q Xia, M Wang, X Yang, X Li, X Zhang, S Xu, Z Shuai, J Xu, D Fan, C Ding, F Pan
It is known that ankylosing spondylitis (AS) and inflammatory bowel disease (IBD) shared a common genetic component. The gist of current study is to assess the role of IBD-associated autophagy gene IRGM on AS susceptibility in a Chinese Han population. A total of 1270 unrelated subjects (643 AS and 627 controls) were enrolled. Two tag single-nucleotide polymorphisms (SNPs) (rs10065172 and rs4958846) were selected and were genotyped by iMLDR Assay technology. Genotypes and haplotype analysis were conducted by using SPSS 16...
December 29, 2016: Genes and Immunity
https://www.readbyqxmd.com/read/27999312/a-possible-role-of-intestinal-microbiota-in-the-pathogenesis-of-ankylosing-spondylitis
#11
REVIEW
Lianjun Yang, Liping Wang, Xin Wang, Cory J Xian, Hai Lu
Ankylosing spondylitis (AS) is a chronic inflammatory disease primarily affecting the sacroiliac joints and the spine, for which the pathogenesis is thought to be a result of the combination of host genetic factors and environmental triggers. However, the precise factors that determine one's susceptibility to AS remain to be unraveled. With 100 trillion bacteria residing in the mammalian gut having established a symbiotic relation with their host influencing many aspects of host metabolism, physiology, and immunity, a growing body of evidence suggests that intestinal microbiota may play an important role in AS...
December 17, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27965977/lack-of-association-between-genetic-polymorphisms-of-jak-stat-signaling-pathway-genes-and-acute-anterior-uveitis-in-han-chinese
#12
Ling Cheng, Hongsong Yu, Yan Jiang, Juan He, Sisi Pu, Xin Li, Li Zhang
Purpose. This study aimed to investigate the association between single nucleotide polymorphisms (SNPs) of JAK-STAT signaling pathway genes and acute anterior uveitis (AAU) with or without ankylosing spondylitis (AS) in the Han Chinese population. Methods. Eleven SNPs of the JAK1, JAK2, STAT1, IRF1, and NOS2 genes were analyzed in 443 AAU patients with AS, 486 AAU patients without AS, and 714 healthy controls. Genotyping was performed by PCR-RFLP assay or TaqMan® probe assay. The Chi-squared (χ(2)) test and multivariate logistic regression analysis were used to compare the distributions of alleles and genotypes between patients and controls...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27964792/cardiovascular-disease-in-inflammatory-rheumatic-diseases
#13
REVIEW
Santos Castañeda, Michael T Nurmohamed, Miguel A González-Gay
Chronic inflammatory rheumatic diseases (IRD), including rheumatoid arthritis, ankylosing spondylitis, and psoriatic arthritis, are prevalent conditions worldwide, with a considerable burden on healthcare systems. They are associated with increased cardiovascular (CV) morbidity and mortality. In this review, we focused on the epidemiology, traditional CV risk factors, genetics, and the link between chronic inflammation, atherosclerosis, and CV disease. Remarkably, patients with IRD have higher vulnerability to atheromatous plaques...
October 2016: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/27936930/different-contributions-of-cdkal1-kif21b-and-lrrk2-muc19-polymorphisms-to-sapho-syndrome-rheumatoid-arthritis-ankylosing-spondylitis-and-seronegative-spondyloarthropathy
#14
Nan Li, Junfen Ma, Kai Li, Changlong Guo, Liang Ming
OBJECTIVES: Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, rheumatoid arthritis (RA), ankylosing spondylitis (AS), and seronegative spondyloarthropathy (SPA) are autoimmune diseases of unknown etiology, which share some clinical manifestations in common. Previous family-based investigations support genetic contributions to the susceptibility of these diseases. The current study evaluated whether three previously reported AS-associated single-nucleotide polymorphisms (SNPs), rs6908425 T>C in CDKAL1, rs11584383 T>C near KIF21B, and rs11175593 C>T near LRRK2/MUC19, have any genetic overlap across multiple autoimmune diseases including SAPHO syndrome, RA, AS, and SPA...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27917334/genetic-association-between-tnf-%C3%AE-857-c-t-polymorphism-and-ankylosing-spondylitis-susceptibility-evidence-from-a-meta-analysis
#15
Yong Li, Hong-Bo Tang, Jing Bian, Bin-Bin Li, Tai-Fang Gong
Certain studies have suggested that the tumor necrosis factor-α (TNF-α) -857 C/T polymorphism is associated with risk of ankylosing spondylitis. However, the conclusions remain controversial. Therefore, we performed a meta-analysis to provide a more precise conclusion. Such databases as PubMed, Embase, CBM, CNKI, and Wanfang Data were searched to identify relevant studies up to August 26, 2015. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to estimate the association between TNF-α -857 C/T polymorphism and ankylosing spondylitis susceptibility...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27909141/developing-a-risk-scoring-model-for-ankylosing-spondylitis-based-on-a-combination-of-hla-b27-single-nucleotide-polymorphism-and-copy-number-variant-markers
#16
Seung-Hyun Jung, Sung-Min Cho, Seon-Hee Yim, So-Hee Kim, Hyeon-Chun Park, Mi-La Cho, Seung-Cheol Shim, Tae-Hwan Kim, Sung-Hwan Park, Yeun-Jun Chung
OBJECTIVE: To develop a genotype-based ankylosing spondylitis (AS) risk prediction model that is more sensitive and specific than HLA-B27 typing. METHODS: To develop the AS genetic risk scoring (AS-GRS) model, 648 individuals (285 cases and 363 controls) were examined for 5 copy number variants (CNV), 7 single-nucleotide polymorphisms (SNP), and an HLA-B27 marker by TaqMan assays. The AS-GRS model was developed using logistic regression and validated with a larger independent set (576 cases and 680 controls)...
December 2016: Journal of Rheumatology
https://www.readbyqxmd.com/read/27888057/association-between-rs2294020-in-x-linked-ccdc22-and-susceptibility-to-autoimmune-diseases-with-focus-on-systemic-lupus-erythematosus
#17
Fabio D'Amico, Evangelia Skarmoutsou, Lauren J Lo, Mariagrazia Granata, Chiara Trovato, Giulio A Rossi, Chiara Bellocchi, Maurizio Marchini, Raffaella Scorza, Maria Clorinda Mazzarino, Alon Keinan
Autoimmune diseases often share common susceptibility genes. Most genetic variants associated with susceptibility to systemic lupus erythematosus are also associated with other autoimmune diseases. The X-linked variant rs2294020 is positioned in exon 7 of the CCDC22 gene. The encoded protein functions in the regulation of NF-κB, a master regulator in immune response. The aim of this study is to investigate whether the rs2294020 polymorphism may be a general susceptibility factor for autoimmunity. We evaluated case-control association between the occurrence of rs2294020 and different autoimmune diseases, including new data for systemic lupus erythematosus and previous genome-wide association studies (GWAS) (though most did not analyse the X chromosome) of psoriasis, celiac disease, Crohn's disease, ulcerative colitis, multiple sclerosis, vitiligo, type-1 diabetes, rheumatoid arthritis, and ankylosing spondylitis...
January 2017: Immunology Letters
https://www.readbyqxmd.com/read/27869438/immunology-update-biologics
#18
S Paul Starr
Biologics are substances made from a living organism or its products. These include genes, proteins (eg, antibodies, receptors, enzymes, inhibitors), recombinant proteins, and fusion proteins. Biologics often are produced using recombinant DNA technology. For example, monoclonal antibodies are produced by inserting human genes into immortalized cell cultures, which then produce the gene product (ie, an antibody) in large quantity. Another approach is to fuse genetic material from nonhuman sources (eg, mice) with human genetic material...
November 2016: FP Essentials
https://www.readbyqxmd.com/read/27864696/generation-and-differentiation-of-induced-pluripotent-stem-cells-reveal-ankylosing-spondylitis-risk-gene-expression-in-bone-progenitors
#19
Gerlinde Layh-Schmitt, Shajia Lu, Fatemeh Navid, Stephen R Brooks, Emily Lazowick, Kathryn M Davis, Cristina Montagna, Massimo Gadina, Robert A Colbert
Axial spondyloarthritis (axSpA), which encompasses ankylosing spondylitis, is a complex genetic disease. Aberrant bone formation is a key feature of pathogenesis that can lead to ankylosis of the spine. Our objective is to determine, whether genes whose variants confer susceptibility to AS are expressed in bone progenitors like mesenchymal stem cells (MSCs). Since MSCs from bone marrow is difficult to obtain, we first examined, whether MSCs can be derived from induced pluripotent stem cells (iPSCs). Dermal fibroblasts of two axSpA patients and one healthy control were reprogrammed into iPSCs using a Sendai virus vector encoding pluripotency genes...
January 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/27826329/recurrent-macrophage-activation-syndrome-since-toddler-age-in-an-adolescent-boy-with-hla-b27-positive-juvenile-ankylosing-spondylitis
#20
Joon Hyeong Park, Yu Mi Seo, Seung Beom Han, Ki Hwan Kim, Jung Woo Rhim, Nack Gyun Chung, Myung Shin Kim, Jin Han Kang, Dae Chul Jeong
Recurrent macrophage activation syndrome (MAS) is very rare. We present the case of an adolescent boy with human leukocyte antigen (HLA) B27-positive ankylosing spondylitis (AS), who experienced episodes of recurrent MAS since he was a toddler. A 16-year-old boy was admitted because of remittent fever with pancytopenia and splenomegaly after surgical intervention for an intractable perianal abscess. He had been diagnosed with hemophagocytic lymphohistiocytosis (HLH) 4 different times, which was well controlled with intravenous immunoglobulin and steroids since the age of 3...
October 2016: Korean Journal of Pediatrics
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