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Genetics of ankylosing spondylitis

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https://www.readbyqxmd.com/read/28711142/genetics-and-the-causes-of-ankylosing-spondylitis
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28493913/pathogenic-variants-screening-in-seventeen-candidate-genes-on-2p15-for-association-with-ankylosing-spondylitis-in-a-han-chinese-population
#10
Mengmeng Wang, Lihong Xin, Guoqi Cai, Xu Zhang, Xiao Yang, Xiaona Li, Qing Xia, Li Wang, Shengqian Xu, Jianhua Xu, Zongwen Shuai, Changhai Ding, Faming Pan
OBJECTIVES: Previous studies have found the association between rs10865331 in 2p15 area and ankylosing spondylitis (AS). This study aimed to identify additional functional genetic variants in 2p15 region associated with AS susceptibility. METHODS: We used next generation sequencing (NGS) in 100 AS cases and 100 healthy controls to screen AS susceptible genetic variants, and validated these variants in 620 cases and 620 controls by using imLDRTM technique for single nucleotide polymorphism (SNP) genotyping...
2017: PloS One
https://www.readbyqxmd.com/read/28489756/the-genetic-association-between-polymorphisms-in-lymphotoxin-%C3%AE-gene-and-ankylosing-spondylitis-susceptibility-in-chinese-group-a-case-control-study
#11
Bei Jia, Xiangbei Qi
The study was designed to reveal the genetic relationship of lymphotoxin-α (LTA) polymorphisms with risk of ankylosing spondylitis (AS) in Chinese Han population.LTA polymorphisms were genotyped by polymerase chain reaction-direct sequencing (PCR-DS) in 138 AS patients and 141 healthy controls. The genotype distribution in control group was checked the status of Hardy-Weinberg equilibrium (HWE). Odds ratio (OR) with 95% confidence interval (95%CI) calculated by χ test was used to show effects of LTA polymorphisms on AS risk...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28446810/pathogenesis-of-ankylosing-spondylitis-recent-advances-and-future-directions
#12
REVIEW
Vidya Ranganathan, Eric Gracey, Matthew A Brown, Robert D Inman, Nigil Haroon
Over the past 5 years, advances in high-throughput techniques and studies involving large cohorts of patients have led to considerable advances in the identification of novel genetic associations and immune pathways involved in ankylosing spondylitis (AS). These discoveries include genes encoding cytokine receptors, transcription factors, signalling molecules and transport proteins. Although progress has been made in understanding the functions and potential pathogenic roles of some of these molecules, much work remains to be done to comprehend their complex interactions and therapeutic potential in AS...
June 2017: Nature Reviews. Rheumatology
https://www.readbyqxmd.com/read/28423679/association-of-il-1a-and-il-1b-polymorphisms-with-ankylosing-spondylitis-among-the-chinese-han-population-a-case-control-study
#13
Lei Li, Baolan Shi, Wenkai Zheng, Wenhua Xing, Yan Zhao, Feng Li, Daqi Xin, Tianbo Jin, Yong Zhu, Xuejun Yang
Ankylosing spondylitis (AS) is a complex and chronic inflammatory disease with a high heritage. Previous study has shown that IL-1A and IL-1B involved in inflammatory reaction. But little is known about single nucleotide polymorphisms (SNPs) of IL-1A and IL-1B associated with AS. We conducted a case-control study among 267 AS cases and 297 healthy controls from China. In the genetic model analysis, we found the "T" genotype of rs3783550 was associated with decreased AS risk in the dominant model (p = 0.044) and log-additive model (p = 0...
April 25, 2017: Oncotarget
https://www.readbyqxmd.com/read/28405734/genetic-association-between-tap1-and-tap2-polymorphisms-and-ankylosing-spondylitis-a-systematic-review-and-meta-analysis
#14
Yufeng Qian, Genlin Wang, Feng Xue, Lianghui Chen, Yan Wang, Liang Tang, Huilin Yang
OBJECTIVES: Ankylosing spondylitis (AS) is a chronic inflammatory joint disease. The transporter associated with antigen processing (TAP) has been identified to play an important role in immune response as well as the HLA-associated diseases. The aim of our meta-analysis was to investigate the contribution of TAP (TAP1 and TAP2) polymorphisms to the risk of AS. METHODS: Meta-analyses were performed between 2 polymorphisms in TAP1 (TAP1-333, -637) and 3 polymorphisms in TAP2 (TAP2-379, -565, and -665) and AS...
August 2017: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
https://www.readbyqxmd.com/read/28403136/influence-of-cyp2c9-and-cox-2-genetic-polymorphisms-on-clinical-efficacy-of-non-steroidal-anti-inflammatory-drugs-in-treatment-of-ankylosing-spondylitis
#15
Yu Wang, Xiao-Dong Yi, Hai-Lin Lu
BACKGROUND The aim of this study was to evaluate the relationships of CYP2C9 and COX-2 genetic polymorphisms with therapeutic efficacy of non-steroidal anti-inflammatory drugs (NSAIDs) in treatment of ankylosing spondylitis (AS). MATERIAL AND METHODS We enrolled 130 AS inpatients and outpatients in the Arthritis and Rheumatism Department of Peking University First Hospital and 106 healthy people getting routine check-ups between September 2013 and July 2014. CYP2C9 and COX-2 genetic polymorphisms were detected by PCR-RFLP...
April 12, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28386763/ankylosing-spondylitis-hla-b-27-positive-versus-hla-b-27-negative-disease
#16
REVIEW
Nurullah Akkoç, Handan Yarkan, Gökçe Kenar, Muhammad A Khan
PURPOSE OF REVIEW: We review our current knowledge about the clinical features of patients with ankylosing spondylitis (AS) who possess HLA-B*27 versus those who lack this gene. RECENT FINDINGS: ERAP1 association is present only in HLA-B*27+ patients, but other genetic associations are similar between the two groups. A genetic study supports the existence of an HLA-B27-independent common link between gut inflammation and AS. It is unusual to observe familial occurrence of primary AS among families of northern European extraction that show no segregation of HLA-B*27, psoriasis, or IBD...
May 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28381868/investigation-of-a-possible-extended-risk-haplotype-in-the-il23r-region-associated-with-ankylosing-spondylitis
#17
A R Roberts, M Vecellio, A Cortes, J C Knight, C J Cohen, B P Wordsworth
The IL23R region on chromosome 1 exhibits complex associations with ankylosing spondylitis (AS). We used publicly available epigenomic information and historical genetic association data to identify a putative regulatory element (PRE) in the intergenic region between IL23R and IL12RB2, which includes two single-nucleotide polymorphisms (SNPs) independently associated with AS-rs924080 (P=2 × 10(-3)) and rs11578380 (P=2 × 10(-4)). In luciferase reporter assays, this PRE showed silencer activity (P<0.001)...
March 2017: Genes and Immunity
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
#18
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...
May 2017: Neurological Research
https://www.readbyqxmd.com/read/28270233/mechanistic-rationales-for-targeting-interleukin-17a-in-spondyloarthritis
#19
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
#20
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)
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