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Genetics of ankylosing spondylitis

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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
#1
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
#2
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
#3
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...
April 27, 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
#4
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
#5
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...
April 12, 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
#6
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
#7
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
#8
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)...
April 6, 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
#9
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
#10
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
#11
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
#12
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-human-leukocyte-antigen-hla-b27-peptidome-in-vivo-in-spondyloarthritis-susceptible-hla-b27-transgenic-rats-and-the-effect-of-erap1-deletion
#13
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...
April 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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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