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https://www.readbyqxmd.com/read/28431796/lessons-learned-from-twins-in-autoimmune-and-chronic-inflammatory-diseases
#1
REVIEW
Elena Generali, Angela Ceribelli, Maria Antonietta Stazi, Carlo Selmi
Autoimmunity and chronic inflammation recognize numerous shared factors and, as a result, the resulting diseases frequently coexist in the same patients or respond to the same treatments. Among the convenient truths of autoimmune and chronic inflammatory diseases, there is now agreement that these are complex conditions in which the individual genetic predisposition provides a rate of heritability. The concordance rates in monozygotic and dizygotic twins allows to estimate the weight of the environment in determining disease susceptibility, despite recent data supporting that only a minority of immune markers depend on hereditary factors...
April 18, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28333965/worm-infestations-and-development-of-autoimmunity-in-children-the-abis-study
#2
Johnny Ludvigsson, Michael P Jones, Åshild Faresjö
Worm infestations influence the immune system and may therefore decrease the risk for autoimmune diseases. The aim of the study was to determine whether children who have developed autoimmune disease were less likely to have had worm infestations in childhood. The ABIS-study is a prospective population-based cohort study of children born in southeast Sweden 1997/99. 17.055 children participated. As of June 2014 116 individuals had developed Type 1 diabetes, 181 celiac disease, and 53 Juvenile Rheumatoid Arthritis...
2017: PloS One
https://www.readbyqxmd.com/read/28275240/polygenic-risk-assessment-reveals-pleiotropy-between-sarcoidosis-and-inflammatory-disorders-in-the-context-of-genetic-ancestry
#3
C A Lareau, C F DeWeese, I Adrianto, C J Lessard, P M Gaffney, M C Iannuzzi, B A Rybicki, A M Levin, C G Montgomery
Sarcoidosis is a complex disease of unknown etiology characterized by the presence of granulomatous inflammation. Though various immune system pathways have been implicated in disease, the relationship between the genetic determinants of sarcoidosis and other inflammatory disorders has not been characterized. Herein, we examined the degree of genetic pleiotropy common to sarcoidosis and other inflammatory disorders to identify shared pathways and disease systems pertinent to sarcoidosis onset. To achieve this, we quantify the association of common variant polygenic risk scores from nine complex inflammatory disorders with sarcoidosis risk...
March 9, 2017: Genes and Immunity
https://www.readbyqxmd.com/read/28187197/genetic-variants-alter-t-bet-binding-and-gene-expression-in-mucosal-inflammatory-disease
#4
Katrina Soderquest, Arnulf Hertweck, Claudia Giambartolomei, Stephen Henderson, Rami Mohamed, Rimma Goldberg, Esperanza Perucha, Lude Franke, Javier Herrero, Vincent Plagnol, Richard G Jenner, Graham M Lord
The polarization of CD4+ T cells into distinct T helper cell lineages is essential for protective immunity against infection, but aberrant T cell polarization can cause autoimmunity. The transcription factor T-bet (TBX21) specifies the Th1 lineage and represses alternative T cell fates. Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) that may be causative for autoimmune diseases. The majority of these polymorphisms are located within non-coding distal regulatory elements...
February 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28087670/plant-lectins-activate-the-nlrp3-inflammasome-to-promote-inflammatory-disorders
#5
Tao Gong, Xiaqiong Wang, Yanqing Yang, Yiqing Yan, Chenggong Yu, Rongbin Zhou, Wei Jiang
Plant-derived dietary lectins have been reported to be involved in the pathogenesis of several inflammatory diseases, including inflammatory bowel disease, diabetes, rheumatoid arthritis, and celiac disease, but little is known about the molecular mechanisms underlying lectin-induced inflammation. In this study, we showed that plant lectins can induce caspase-1 activation and IL-1β secretion via the NLRP3 inflammasome. Lectins were internalized and subsequently escaped from the lysosome and then translocated to the endoplasmic reticulum...
January 13, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/27888057/association-between-rs2294020-in-x-linked-ccdc22-and-susceptibility-to-autoimmune-diseases-with-focus-on-systemic-lupus-erythematosus
#6
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/27852543/screening-of-patients-with-juvenile-idiopathic-arthritis-and-those-with-rheumatoid-arthritis-for-celiac-disease-in-southwestern-iran
#7
Mozhgan Moghtaderi, Shirin Farjadian, Elham Aflaki, Naser Honar, Soheila Alyasin, Maryam Babaei
BACKGROUND/AIMS: Celiac disease (CD) is a common enteropathy triggered by the ingestion of gluten in genetically susceptible individuals. It is frequently found in conjunction with other autoimmune diseases. The purpose of this study was to investigate the prevalence of CD in patients with juvenile idiopathic arthritis (JIA) and those with rheumatoid arthritis (RA) in southwestern Iran. MATERIALS AND METHODS: A total of 53 children with JIA and 55 adults with RA were enrolled...
November 2016: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
https://www.readbyqxmd.com/read/27793215/intestinal-barrier-and-behavior
#8
M Julio-Pieper, J A Bravo
The intestinal barrier function contributes to gut homeostasis by modulating absorption of water, electrolytes, and nutrients from the lumen into the circulation while restricting the passage of noxious luminal substances and microorganisms. Chronic conditions such as rheumatoid arthritis, inflammatory bowel disease, and celiac disease are associated to intestinal barrier dysfunction. Here, the hypothesis is that a leaky intestinal wall allowing for indiscriminate passage of intraluminal compounds to the vascular compartment could in turn lead to systemic inflammation...
2016: International Review of Neurobiology
https://www.readbyqxmd.com/read/27639841/the-association-of-other-autoimmune-diseases-in-patients-with-autoimmune-thyroiditis-review-of-the-literature-and-report-of-a-large-series-of-patients
#9
REVIEW
Poupak Fallahi, Silvia Martina Ferrari, Ilaria Ruffilli, Giusy Elia, Marco Biricotti, Roberto Vita, Salvatore Benvenga, Alessandro Antonelli
We have evaluated prospectively the prevalence of other autoimmune disorders in outpatient clinic in 3069 consecutive patients with diagnosed chronic autoimmune thyroiditis (AT), with respect to two age- and sex-matched control groups: a) a control group of 1023 subjects, extracted from a random sample of the general population without thyroid disorders; b) 1023 patients with non-toxic multinodular goiter extracted from the same random sample of the general population, with similar iodine intake. The results of our study demonstrate a significant increase of the prevalence of autoimmune disorders in AT patients (with respect to both controls), for the following diseases: chronic autoimmune gastritis (CAG), vitiligo (Vit), rheumatoid arthritis, polymialgia rheumatica (Polym), celiac disease, diabetes, sjogren disease, multiple sclerosis, systemic lupus erythematosus, sarcoidosis, alopecia, psoriathic arthritis, systemic sclerosis, and HCV-related cryoglobulinemia...
December 2016: Autoimmunity Reviews
https://www.readbyqxmd.com/read/27639376/prevalence-of-osteoporosis-in-the-italian-population-and-main-risk-factors-results-of-bonetour-campaign
#10
Loredana Cavalli, Andrea Guazzini, Luisella Cianferotti, Simone Parri, Tiziana Cavalli, Alessia Metozzi, Francesca Giusti, Caterina Fossi, Dennis M Black, Maria Luisa Brandi
BACKGROUND: BoneTour is a campaign conducted throughout the Italian territory for the assessment of Italian people bone status and for the prevention of osteoporosis. METHODS: A total of 7305 sequential subjects of both sexes were screened, collecting clinical data through the FRAX™ questionnaire, and measuring heel bone stiffness by Quantitative Ultrasonography (QUS). The 10-year risk for hip and major osteoporotic fractures was calculated taking into account personal or family history of fragility fracture, smoking, alcohol abuse, rheumatoid arthritis, prolonged steroids assumption...
2016: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/27429984/autoimmune-inflammatory-arthritis-associated-lymphomas-who-is-at-risk
#11
REVIEW
Sujani Yadlapati, Petros Efthimiou
Specific autoimmune and inflammatory rheumatic diseases have been associated with an increased risk of malignant lymphomas. Conditions such as rheumatoid arthritis (RA), primary Sjögren's syndrome (pSS), systemic lupus erythematosus (SLE), dermatomyositis, and celiac disease have been consistently linked to malignant lymphomas. Isolated cases of lymphomas associated with spondyloarthropathies and autoinflammatory diseases have also been reported. Direct association between autoimmunity and lymphomagenesis has been reinforced by large epidemiological studies...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27228639/vitamin-d-and-systemic-lupus-erythematosus-myth-or-reality
#12
REVIEW
Abdulla Watad, Shana G Neumann, Alessandra Soriano, Howard Amital, Yehuda Shoenfeld
There is growing interest in the contribution of vitamin D deficiency to autoimmunity. Several studies have shown an association between low levels of vitamin D and autoimmune disorders, including multiple sclerosis, rheumatoid arthritis, type 1 diabetes, autoimmune thyroid diseases, celiac disease, and systemic lupus erythematosus (SLE). Vitamin D receptor ligands can mediate immunosuppressive effects. It has been suggested that low levels of this hormone contribute to the immune activation in lupus and other autoimmune diseases...
March 2016: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/27215923/risk-of-autoimmunity-in-eoe-and-families-a-population-based-cohort-study
#13
Kathryn Peterson, Rafael Firszt, John Fang, Jathine Wong, Ken R Smith, Kristina A Brady
OBJECTIVES: Recent genome-wide association studies have suggested possible genetic associations between eosinophilic esophagitis (EoE) and genes associated with autoimmunity. No studies to date have looked at potential genetic association of EoE with specific autoimmune diseases by evaluating such diagnoses within family members. Investigate the risk of specific autoimmune disease within EoE probands and their extended family members. METHODS: The Utah Population Database offers a unique opportunity to link medical records from over 85% of Utah's population to genealogy records representing Utah...
July 2016: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/27215233/association-of-ptpn22-rs2476601-polymorphism-with-rheumatoid-arthritis-and-celiac-disease-in-khuzestan-province-southwestern-iran
#14
Zahra Abbasi, Seyed Reza Kazemi Nezhad, Mahdi Pourmahdi-Broojeni, Elham Rajaei
BACKGROUND: Single-nucleotide polymorphism (SNP) rs2476601 within protein tyrosine phosphatase non-receptor type 22 gene (PTPN22) has been shown to be a risk factor for different autoimmune diseases. This study explored the association of 1858 C/T SNP with rheumatoid arthritis (RA) and celiac disease (CD) in a region covering south-west of Iran. METHODS: Totally, 52 patients with CD, 120 patients with RA, and 120 healthy subjects were selected. The samples were genotyped for the rs2476601 in PTPN22 gene using the tetra-amplification refractory mutation system polymerase chain reaction...
January 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/27159840/lbh-gene-transcription-regulation-by-the-interplay-of-an-enhancer-risk-allele-and-dna-methylation-in-rheumatoid-arthritis
#15
Deepa Hammaker, John W Whitaker, Keisuke Maeshima, David L Boyle, Anna-Karin H Ekwall, Wei Wang, Gary S Firestein
OBJECTIVE: To identify nonobvious therapeutic targets for rheumatoid arthritis (RA), we performed an integrative analysis incorporating multiple "omics" data and the Encyclopedia of DNA Elements (ENCODE) database for potential regulatory regions. This analysis identified the limb bud and heart development (LBH) gene, which has risk alleles associated with RA/celiac disease and lupus, and can regulate cell proliferation in RA. We identified a novel LBH transcription enhancer with an RA risk allele (rs906868 G [Ref]/T) 6 kb upstream of the LBH gene with a differentially methylated locus...
November 2016: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/27088644/association-between-genetic-traits-for-immune-mediated-diseases-and-alzheimer-disease
#16
Jennifer S Yokoyama, Yunpeng Wang, Andrew J Schork, Wesley K Thompson, Celeste M Karch, Carlos Cruchaga, Linda K McEvoy, Aree Witoelar, Chi-Hua Chen, Dominic Holland, James B Brewer, Andre Franke, William P Dillon, David M Wilson, Pratik Mukherjee, Christopher P Hess, Zachary Miller, Luke W Bonham, Jeffrey Shen, Gil D Rabinovici, Howard J Rosen, Bruce L Miller, Bradley T Hyman, Gerard D Schellenberg, Tom H Karlsen, Ole A Andreassen, Anders M Dale, Rahul S Desikan
IMPORTANCE: Late-onset Alzheimer disease (AD), the most common form of dementia, places a large burden on families and society. Although epidemiological and clinical evidence suggests a relationship between inflammation and AD, their relationship is not well understood and could have implications for treatment and prevention strategies. OBJECTIVE: To determine whether a subset of genes involved with increased risk of inflammation are also associated with increased risk for AD...
June 1, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/26830864/clustering-of-autoimmune-diseases-in-patients-with-rosacea
#17
COMPARATIVE STUDY
Alexander Egeberg, Peter Riis Hansen, Gunnar Hilmar Gislason, Jacob Pontoppidan Thyssen
BACKGROUND: Rosacea is a common inflammatory skin condition that shares genetic risk loci with autoimmune diseases such as type 1 diabetes mellitus (T1DM) and celiac disease. A recent genomewide association study identified 90 genetic regions associated with T1DM, celiac disease, multiple sclerosis, and/or rheumatoid arthritis, respectively. However, a possible association with rosacea was not investigated. OBJECTIVE: We evaluated the association between rosacea and T1DM, celiac disease, multiple sclerosis, and rheumatoid arthritis, respectively...
April 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/26684936/antibodies-against-neo-epitope-ttg-complexed-to-gliadin-are-different-and-more-reliable-then-anti-ttg-for-the-diagnosis-of-pediatric-celiac-disease
#18
Aaron Lerner, Patricia Jeremias, Sandra Neidhöfer, Torsten Matthias
The neo-epitope tTg (tTg-neo) autoantibody, never challenged the anti-tissue transglutaminase (tTg) premiership, recommended by ESPGHAN, for celiac disease (CD) diagnosis. Pediatric CD (PCD), abdominal pains and normal children, normal adults, and rheumatoid arthritis patients, were tested using the following ELISAs detecting IgA, IgG or both IgA and IgG (check): AESKULISA® tTg (tTg; RUO) and AESKULISA® tTg-neo. Higher OD activity was detected for tTg-neo IgA, IgG and IgA+IgG than for tTg. tTg-neo IgA, IgG correlated better with intestinal damage than tTg...
February 2016: Journal of Immunological Methods
https://www.readbyqxmd.com/read/26370701/t-cell-epitopes-and-post-translationally-modified-epitopes-in-type-1-diabetes
#19
REVIEW
John W McGinty, Meghan L Marré, Veronique Bajzik, Jon D Piganelli, Eddie A James
Type 1 diabetes (T1D) is an autoimmune disease in which progressive loss of self-tolerance, evidenced by accumulation of auto-antibodies and auto-reactive T cells that recognize diverse self-proteins, leads to immune-mediated destruction of pancreatic beta cells and loss of insulin secretion. In this review, we discuss antigens and epitopes in T1D and the role that post-translational modifications play in circumventing tolerance mechanisms and increasing antigenic diversity. Emerging data suggest that, analogous to other autoimmune diseases such as rheumatoid arthritis and celiac disease, enzymatically modified epitopes are preferentially recognized in T1D...
November 2015: Current Diabetes Reports
https://www.readbyqxmd.com/read/26258845/widespread-non-additive-and-interaction-effects-within-hla-loci-modulate-the-risk-of-autoimmune-diseases
#20
Tobias L Lenz, Aaron J Deutsch, Buhm Han, Xinli Hu, Yukinori Okada, Stephen Eyre, Michael Knapp, Alexandra Zhernakova, Tom W J Huizinga, Gonçalo Abecasis, Jessica Becker, Guy E Boeckxstaens, Wei-Min Chen, Andre Franke, Dafna D Gladman, Ines Gockel, Javier Gutierrez-Achury, Javier Martin, Rajan P Nair, Markus M Nöthen, Suna Onengut-Gumuscu, Proton Rahman, Solbritt Rantapää-Dahlqvist, Philip E Stuart, Lam C Tsoi, David A van Heel, Jane Worthington, Mira M Wouters, Lars Klareskog, James T Elder, Peter K Gregersen, Johannes Schumacher, Stephen S Rich, Cisca Wijmenga, Shamil R Sunyaev, Paul I W de Bakker, Soumya Raychaudhuri
Human leukocyte antigen (HLA) genes confer substantial risk for autoimmune diseases on a log-additive scale. Here we speculated that differences in autoantigen-binding repertoires between a heterozygote's two expressed HLA variants might result in additional non-additive risk effects. We tested the non-additive disease contributions of classical HLA alleles in patients and matched controls for five common autoimmune diseases: rheumatoid arthritis (ncases = 5,337), type 1 diabetes (T1D; ncases = 5,567), psoriasis vulgaris (ncases = 3,089), idiopathic achalasia (ncases = 727) and celiac disease (ncases = 11,115)...
September 2015: Nature Genetics
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