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HLA DQ2 DQ8

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https://www.readbyqxmd.com/read/29561984/prevalence-of-celiac-disease-predisposing-genotypes-including-hla-dq2-2-variant-in-brazilian-children
#1
Nicole Selleski, Lucas Malta Almeida, Fernanda Coutinho de Almeida, Claudia Beatriz Pratesi, Yanna Karla de Medeiros Nóbrega, Lenora Gandolfi
BACKGROUND: Celiac disease is an autoimmune enteropathy triggered by the ingestion of gluten in genetically susceptible individuals. Almost all celiac patients carry immune recognition genes coding for HLA-DQ2.5 and DQ8 heterodimers. Over the last few years, great importance has been given to HLA-DQ2.2 as probable predisposing variant, although controversies still exist regarding its relevance. OBJECTIVE: The aim of our study was to determine the possible existence of an association between HLA-DQ2...
January 2018: Arquivos de Gastroenterologia
https://www.readbyqxmd.com/read/29555204/-anti-tissue-transglutaminase-antibodies-not-related-to-gluten-intake
#2
Mónica Garcia-Peris, Ester Donat Aliaga, María Roca Llorens, Etna Masip Simó, Begoña Polo Miquel, Carmen Ribes Koninckx
INTRODUCTION: Anti-tissue transglutaminase antibodies (tTG) have high specificity for coeliac disease (CD). However, positive anti-tTG antibodies have been described in non-coeliac patients. Aim To assess positive anti-tTG antibodies not related to gluten intake. PATIENTS AND METHODS: Retrospective review and follow up conducted on patients with suspected CD (increase anti-tTG levels and gastrointestinal symptoms) but with atypical serology results, positive anti-tTG with gluten free diet and a decrease in anti-tTG levels despite gluten intake...
March 16, 2018: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/29545461/accelerated-progression-to-type-1-diabetes-in-the-presence-of-hla-a-24-and-b-18-is-restricted-to-multiple-islet-autoantibody-positive-individuals-with-distinct-hla-dq-and-autoantibody-risk-profiles
#3
Else M Balke, Eric V Balti, Bart Van der Auwera, Ilse Weets, Olivier Costa, Simke Demeester, Pascale Abrams, Kristina Casteels, Marina Coeckelberghs, Sylvie Tenoutasse, Bart Keymeulen, Daniel G Pipeleers, Frans K Gorus
OBJECTIVE: We investigated the effect of HLA class I risk alleles on disease progression in various phases of subclinical islet autoimmunity in first-degree relatives of patients with type 1 diabetes. RESEARCH DESIGN AND METHODS: A registry-based group of siblings/offspring (aged 0-39 years) was monitored from single- to multiple-autoantibody positivity ( n = 267) and from multiple-autoantibody positivity to clinical onset ( n = 252) according to HLA-DQ , -A*24 , -B*18 and -B*39 status...
March 15, 2018: Diabetes Care
https://www.readbyqxmd.com/read/29516402/role-of-human-leukocyte-antigens-hla-in-autoimmune-diseases
#4
REVIEW
Gergely Bodis, Victoria Toth, Andreas Schwarting
Since the discovery of HLA 60 years ago, it has contributed to the understanding of the immune system as well as of the pathogenesis of several diseases. Aside from its essential role in determining donor-recipient immune compatibility in organ transplantation, HLA genotyping is meanwhile performed routinely as part of the diagnostic work-up of certain autoimmune diseases. Considering the ability of HLA to influence thymic selection as well as peripheral anergy of T cells, its role in the pathogenesis of autoimmunity is understandable...
March 7, 2018: Rheumatology and Therapy
https://www.readbyqxmd.com/read/29493637/-genotyping-in-patients-affected-by-hla-related-diseases-app-development-for-diagnostic-support
#5
Cristina Capittini, Chiara Rebuffi, Valeria Scotti, Dimitri Poddighe, Luca Mascaretti, Annamaria Pasi, Miryam Martinetti, Carmine Tinelli, Annalisa De Silvestri
HLA typing requests for association studies of immune-mediated diseases are often redundant and inadequate. We designed a series of meta-analyses to evaluate the accuracy of typing and distribution of HLA alleles predisposing to diseases, aiming at developing an app that can help doctors in choosing the most suitable molecular analysis. The first study was on celiac disease (CD) and HLA-DQ in children. We searched all english articles published in the main bibliographic databases up to May 2016. The search strategy has been developed using controlled terms (e...
February 2018: Recenti Progressi in Medicina
https://www.readbyqxmd.com/read/29481982/il10-promoter-haplotypes-may-contribute-to-altered-cytokine-expression-and-systemic-inflammation-in-celiac-disease
#6
S R Hofmann, M W Laass, A Fehrs, D Schuppan, V F Zevallos, D Salminger, K Mäbert, C M Hedrich
Celiac disease (CD) is an autoimmune/inflammatory condition triggered by dietary gluten intake in genetically predisposed individuals. Though associations with MHC class II HLA-DQ2 or -DQ8 are the primary and necessary genetic predisposition for CD, >97% of genetically predisposed individuals never develop CD. Cytokines were measured in the serum of CD patients and controls. Possible associations with IL10 promoter variants were investigated. Cytokine expression from PBMCs was monitored in response to gluten exposure, or CD3/TCR complex stimulation in the absence or presence of recombinant IL-10...
February 23, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29470318/cesarean-section-on-the-risk-of-celiac-disease-in-the-offspring-the-teddy-study
#7
Sibylle Koletzko, Hye-Seung Lee, Andreas Beyerlein, Carin A Aronsson, Michael Hummel, Edwin Liu, Ville Simell, Kalle Kurppa, Åke Lernmark, William Hagopian, Marian Rewers, Jin-Xiong She, Olli Simell, Jorma Toppari, Anette-G Ziegler, Jeffrey Krischer, Daniel Agardh
OBJECTIVE: Cesarean section (C-section) is associated with various immune-mediated diseases in the offspring. We investigated the relationship between mode of delivery and celiac disease (CD) and CD autoimmunity (CDA) in a multinational birth cohort. METHODS: From 2004 to 2010, infants from the general population who tested positive for HLA DR3-DQ2 or DR4-DQ8 were enrolled in The Environmental Determinants for Diabetes in the Young (TEDDY) study. Children were annually screened for transglutaminase autoantibodies, if positive, they are retested after 3 to 6 months and those persistently positive defined as CDA...
March 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29458095/rapid-loop-mediated-isothermal-amplification-detection-of-coeliac-disease-risk-alleles
#8
Michael Erlichster, Jason A Tye-Din, Michael D Varney, Efstratios Skafidas, Patrick Kwan
Human leukocyte antigen (HLA) genotyping has become a useful investigation in the diagnostic work-up of coeliac disease (CD), with utility in risk stratification and screening. However, broad application of this technology has been hindered by the cost and time burden of conventional laboratory-based assays. We have developed and validated CD-loop-mediated isothermal amplification (CD-LAMP), a LAMP assay, which enables rapid identification of the signature CD risk genotypes, HLA-DQ2.5, HLA-DQ8, HLA-DQ2.2, and HLA-DQA1*05...
February 16, 2018: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29444780/the-possible-link-between-coeliac-and-kawasaki-diseases-in-brazil-a-cross-sectional-study
#9
Alessandra Dos Santos Domingues, Nicole Selleski, Rosa Harumi Uenishi, Cristina Medeiros Ribeiro de Magalhães, Lenora Gandolfi, Claudia B Pratesi
BACKGROUND: Kawasaki disease (KD) is a self-limited acute systemic vasculitis of unknown aetiology that predominantly affects infants and young children eventually associated with immunological abnormalities. Coeliac disease (CD) is an inflammatory autoimmune disease characterised by a permanent gluten intolerance, which affects genetically susceptible individuals of any age group, and can cause intestinal and systemic symptoms. Association of CD with KD has been previously described in a single study that disclosed a surprisingly high prevalence of CD in children with a history of KD...
February 14, 2018: BMJ Open
https://www.readbyqxmd.com/read/29431870/a-quarter-of-patients-with-type-1-diabetes-have-co-existing-non-islet-autoimmunity-the-findings-of-a-uk-population-based-family-study
#10
Aizhan Kozhakhmetova, Rebecca C Wyatt, Claire Caygill, Claire Williams, Anna E Long, Kyla Chandler, Rachel J Aitken, Janet M Wenzlau, Howard W Davidson, Kathleen M Gillespie, Alistair J K Williams
Individuals with type 1 diabetes (T1D) are at increased risk of coeliac disease (CD), autoimmune thyroiditis and autoimmune gastritis, but the absolute risks are unclear. The aim of this study was to investigate the prevalence of autoantibodies to tissue transglutaminase (TGA), thyroid peroxidase (TPOA), and gastric H+ /K+ -ATPase (ATPA) and their genetic associations in a well-characterised population-based cohort of individuals with T1D from the Bart's-Oxford family study for whom islet autoantibody prevalence data were already available...
February 12, 2018: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/29418012/hla-coeliac-haplotypes-and-primary-autoimmune-hypophysitis-in-caucasian-patients
#11
Sabrina Chiloiro, Ettore Domenico Capoluongo, Tommaso Tartaglione, Antonio Bianchi, Antonella Giampietro, Flavia Angelini, Vincenzo Arena, Alfredo Pontecorvi, Laura De Marinis
PURPOSE: Primary hypophysitis is a rare disease, with an autoimmune etiology. As few papers have investigated its genetic, our aim was to evaluate HLA status in a single-center series of patients. PATIENTS AND METHOD: A retrospective, longitudinal and cross-sectional study was conducted. Consecutive Caucasian patients, with clinical or histological diagnosis of primary autoimmune hypophysitis (PAH), the HLA genotype having been determined, anti-pituitary and anti-hypothalamus auto-antibodies were included...
February 8, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29413889/profiling-celiac-disease-related-transcriptional-changes
#12
Ainara Castellanos-Rubio, Jose Ramon Bilbao
Celiac disease (CD) is a chronic, autoimmune disease of the small intestine with a strong but complex genetic component. The disease is triggered by the consumption of dietary gluten through the presentation of immunogenic gliadin peptides to T helper lymphocytes by HLA-DQ2 and DQ8 heterodimers, which are the major contributors to the genetic risk. Recent large-scale genotyping efforts have identified a large number of additional association signals, but the functional role of the underlying genes in the pathogenesis of the disease is still unclear...
2018: International Review of Cell and Molecular Biology
https://www.readbyqxmd.com/read/29372596/histopathological-evaluation-of-duodenal-biopsy-in-the-preventcd-project-an-observational-interobserver-agreement-study
#13
Vincenzo Villanacci, Luisa Lorenzi, Francesco Donato, Renata Auricchio, Piotr Dziechciarz, Judit Gyimesi, Sibylle Koletzko, Zrinjka Mišak, Vanesa Morente Laguna, Isabel Polanco, David Ramos, Raanan Shamir, Riccardo Troncone, Sabine L Vriezinga, M Luisa Mearin
Aim of the current study was to evaluate the inter-observer agreement between pathologists in the diagnosis of celiac disease (CD), in the qualified context of a multicenter study. Biopsies from the "PreventCD" study, a multinational- prospective- randomized study in children with at least one-first-degree relative with CD and positive for HLA-DQ2/HLA-DQ8. Ninety-eight biopsies were evaluated. Considering diagnostic samples with villous atrophy (VA), the agreement was satisfactory (κ = 0.84), but much less when assessing the severity of these lesions...
January 26, 2018: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/29364577/resolving-incomplete-single-nucleotide-polymorphism-tagging-of-hla-dq2-2-for-coeliac-disease-genotyping-using-digital-droplet-pcr
#14
M Y Hardy, N Ontiveros, M D Varney, J A Tye-Din
A hallmark of coeliac disease (CD) is the exceptionally strong genetic association with HLA-DQ2.5, DQ8, and DQ2.2. HLA typing provides information on CD risk important to both clinicians and researchers. A method that enables simple and fast detection of all CD risk genotypes is particularly desirable for the study of large populations. SNP-based HLA typing can detect the CD risk genotypes by detecting a combination of six SNPs but this approach can struggle to resolve HLA-DQ2.2, seen in 4% of European CD patients, due to the low resolution of one negatively predicting SNP...
January 24, 2018: HLA
https://www.readbyqxmd.com/read/29361871/risk-variation-in-celiac-disease-in-a-population-from-southern-spain-evaluating-the-influence-of-the-dqb1-02-02-allele-frequency
#15
Carmen M Cabrera, Isabel M Méndez-López, Abelardo Caballero
OBJECTIVES: To date, the greatest genetic risk factor known for celiac disease (CD) is the presence of HLA-DQ2 heterodimers, specifically DQ2.5 in state of homozygosis or heterozygosis. DQ2.2 variants are the second most important risk factor when carried trans to DQ2. This study aimed to determine the prevalence and risk genotypes of HLA-DR-DQ. MATERIAL AND METHODS: A total of 196 patients with CD and 206 healthy controls from the Province of Málaga (southern Spain) were included...
March 2018: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/29358886/hla-dq-celiac-disease-vs-inflammatory-bowel-disease
#16
Marta Maia Bosca-Watts, Miguel Minguez, Dolores Planelles, Samuel Navarro, Alejandro Rodriguez, Jesus Santiago, Joan Tosca, Francisco Mora
AIM: To determine the genetic predisposition to celiac disease (CeD) in inflammatory bowel disease (IBD) patients by quantifying the frequency of CeD-related human leucocyte antigen (HLA) (HLA-CeD: HLA-DQ2 and -DQ8) in IBD patients globally, by type of IBD and gender, and by calculating the protective/risk contribution of these haplotypes in the development of the IBD disease. METHODS: We conducted a prospective study with IBD patients from our Unit. Clinical information was gathered and blood was tested for HLA-CeD...
January 7, 2018: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29350070/celiac-antibodies-in-children-with-type-1-diabetes-a-diagnostic-validation-study
#17
Katarzyna Lewandowska, Olga Ciepiela, Agnieszka Szypowska, Jan Wyhowski, Eliza Głodkowska-Mrówka, Katarzyna Popko, Magdalena Ostafin, Beata Pyrżak, Urszula Demkow
INTRODUCTION: Autoimmune diseases, such as celiac disease (CD) and diabetes mellitus type 1, tend to co-occur within the same patient. The prevalence of CD in diabetic children is higher than in the general population, and is estimated to be 0.6-16.4%. The diagnosis of CD is based on histopathological examination and serological testing, however, these methods are still imperfect and new diagnostic algorithms should be considered. AIM: The aim of the study was to assess the diagnostic value of serological tests detecting antibodies against deamidated gliadin peptide, endomysium, tissue transglutaminase, neo-epitope tissue transglutaminase and to identify HLA-related genetic predisposition to CD in patients with type 1 diabetes mellitus (DM1)...
March 2018: Autoimmunity
https://www.readbyqxmd.com/read/29345406/helicobacter-pylori-infection-and-occurrence-of-celiac-disease-in-subjects-hla-dq2-dq8-positive-a-prospective-study
#18
Maria P Dore, Roberta Salis, Maria F Loria, Vincenzo Villanacci, Gabrio Bassotti, Giovanni M Pes
BACKGROUND: Celiac disease (CD) occurs in subjects positive for HLA-DQ2 and/or DQ8 gene loci at any age following ingestion of gluten-containing food. An increased permeability of the mucosa allows interactions between gliadin macromolecules and genetic factors. It has been observed that Helicobacter pylori has the ability to modulate the integrity of the duodenal epithelium. We aimed to determine whether H. pylori infection may enhance the occurrence of CD in genetically susceptible subjects...
January 18, 2018: Helicobacter
https://www.readbyqxmd.com/read/29324472/collagenous-enteritis-is-unlikely-a-form-of-aggressive-celiac-disease-despite-sharing-hla-dq2-dq8-genotypes
#19
Vanderlene Liu Kung, Ta-Chiang Liu, Changqing Ma
Collagenous enteritis is an uncommon small intestinal injury pattern with unclear pathogenesis. While it has been speculated that collagenous enteritis represents a form of refractory celiac disease, recent clinical studies suggest a potential link to exposure to the antihypertensive medication olmesartan. Here we hypothesized that the pathogenesis of collagenous enteritis involves both genetic and environmental factors. All subjects with biopsy-proven collagenous enteritis diagnosed between 2002 and 2015 were identified from 2 tertiary care medical centers...
April 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29244800/hla-dq-genetics-in-children-with-celiac-disease-a-meta-analysis-suggesting-a-two-step-genetic-screening-procedure-starting-with-hla-dq-%C3%AE-chains
#20
Annalisa De Silvestri, Cristina Capittini, Dimitri Poddighe, Chiara Valsecchi, Gianluigi Marseglia, Sara Carlotta Tagliacarne, Valeria Scotti, Chiara Rebuffi, Annamaria Pasi, Miryam Martinetti, Carmine Tinelli
BackgroundSpecific HLA-DQ genes have been recognized as necessary - but not sufficient - factors for the occurrence of Celiac Disease (CD). Through a meta-analysis, evaluating the distribution of CD-related HLA genotypes in children, we aimed at providing insights for a potential widened screening strategy.MethodsAfter a systematic search on the association between class II HLA genes and CD in children, 46 publications were obtained and assessed for eligibility. A total of 13 eligible studies were submitted to data extraction and analysis (10 case-control studies and 3 cohort studies)...
January 17, 2018: Pediatric Research
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