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HLA DQ2 DQ8

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https://www.readbyqxmd.com/read/29444780/the-possible-link-between-coeliac-and-kawasaki-diseases-in-brazil-a-cross-sectional-study
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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...
January 23, 2018: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/29358886/hla-dq-celiac-disease-vs-inflammatory-bowel-disease
#8
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
#9
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)...
January 19, 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
#10
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
#11
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...
January 10, 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
#12
Annalisa De Silvestri, Cristina Capittini, Dimitri Poddighe, Chiara Valsecchi, Gianluigi Marseglia, Sara Carlotta Tagliacarne, Valeria Scotti, Chiara Rebuffi, Annamaria Pasi, Miryam Martinetti, Carmine Tinelli
OBJECTIVES: through a meta-analysis, evaluating the distribution of the predisposing HLA genotype to Celiac Disease (CD) in children and providing insights for potential widened screening strategy. STUDY DESIGN: After a systematic search on the association between HLA class II and CD in children, 46 publications were obtained and assessed for eligibility. 13 eligible studies were submitted to data extraction and analysis (10 studies case-control and 3 cohort studies)...
December 15, 2017: Pediatric Research
https://www.readbyqxmd.com/read/29224923/allele-specific-methylation-of-type-1-diabetes-susceptibility-genes
#13
Alida S D Kindt, Rainer W Fuerst, Jan Knoop, Michael Laimighofer, Tanja Telieps, Markus Hippich, Maria A Woerheide, Simone Wahl, Rory Wilson, Eva-Maria Sedlmeier, Angela Hommel, John A Todd, Jan Krumsiek, Anette-G Ziegler, Ezio Bonifacio
The susceptibility to autoimmune diseases is influenced by genes encoding major histocompatibility complex (MHC) proteins. By examining the epigenetic methylation maps of cord blood samples, we found marked differences in the methylation status of CpG sites within the MHC genes (cis-metQTLs) between carriers of the type 1 diabetes risk haplotypes HLA-DRB1*03-DQA1*0501-DQB1*0201 (DR3-DQ2) and HLA-DRB1*04-DQA1*0301-DQB1*0302 (DR4-DQ8). These differences were found in children and adults, and were accompanied by reduced HLA-DR protein expression in immune cells with the HLA-DR3-DQ2 haplotype...
December 7, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/29204051/intestinal-epithelium-intraepithelial-lymphocytes-and-the-gut-microbiota-key-players-in-the-pathogenesis-of-celiac-disease
#14
REVIEW
Bożena Cukrowska, Agnieszka Sowińska, Joanna Beata Bierła, Elżbieta Czarnowska, Anna Rybak, Urszula Grzybowska-Chlebowczyk
Celiac disease (CD) is a chronic immune-mediated disorder triggered by the ingestion of gluten in genetically predisposed individuals. Before activating the immune system, gluten peptides are transferred by the epithelial barrier to the mucosal lamina propria, where they are deamidated by intestinal tissue transglutaminase 2. As a result, they strongly bind to human leucocyte antigens (HLAs), especially HLA-DQ2 and HLA-DQ8, expressed on antigen-presenting cells. This induces an inflammatory response, which results in small bowel enteropathy...
November 14, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29182645/hla-and-non-hla-genes-and-familial-predisposition-to-autoimmune-diseases-in-families-with-a-child-affected-by-type-1-diabetes
#15
Anna Parkkola, Antti-Pekka Laine, Markku Karhunen, Taina Härkönen, Samppa J Ryhänen, Jorma Ilonen, Mikael Knip
Genetic predisposition could be assumed to be causing clustering of autoimmunity in individuals and families. We tested whether HLA and non-HLA loci associate with such clustering of autoimmunity. We included 1,745 children with type 1 diabetes from the Finnish Pediatric Diabetes Register. Data on personal or family history of autoimmune diseases were collected with a structured questionnaire and, for a subset, with a detailed search for celiac disease and autoimmune thyroid disease. Children with multiple autoimmune diseases or with multiple affected first- or second-degree relatives were identified...
2017: PloS One
https://www.readbyqxmd.com/read/29163738/a-case-of-moderate-sprue-like-enteropathy-associated-with-telmisartan
#16
Aurelio Negro, Loredana De Marco, Valentina Cesario, Rosaria Santi, Maria Chiara Boni, Magda Zanelli
Sprue-like enteropathy associated with olmesartan medoxomil use has been recently reported. Its clinical manifestations include diarrhea, weight loss and malabsorption. Duodenal biopsies show villous atrophy (VA) with or without intraepithelial lymphocytosis and inflammation of the lamina propria. Serology for celiac disease (CD) is negative and gluten-free diet does not result in clinical improvement. Symptoms resolve after olmesartan discontinuation. Follow-up biopsies show recovery/improvement of the duodenum...
December 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/29162372/genetics-environment-and-asthma-associated-with-celiac-disease-in-the-extended-family-of-an-affected-child
#17
R Sigala-Robles, S V Aguayo-Patrón, A M Calderón de la Barca
INTRODUCTION: Celiac disease (CD) is an autoimmune enteropathy associated with gluten ingestion. In extended families of celiac patients that live in close proximity of one another, shared genetic and environmental factors can predispose them to CD. AIM: The aim of this study was to provide evidence about the genetic and environmental factors involved in the development of CD in the extended family of a pediatric patient. METHODS: The medical history, environmental conditions, and participant weight, height, and peripheral blood samples were evaluated...
November 18, 2017: Revista de Gastroenterología de México
https://www.readbyqxmd.com/read/29143181/hla-dq2-and-dq8-haplotypes-frequency-and-diagnostic-utility-in-celiac-disease-patients-of-gaza-strip-palestine
#18
Basim M Ayesh, Eman Kh Zaqout, Maged M Yassin
PURPOSE: Celiac disease (CD) diagnosis can be established by serological and small bowel biopsy (SBB), while absence of HLA-DQ2 and -DQ8 haplotypes excludes the disease. The present study aims at evaluating the diagnosis of a representative sample of pediatric and adult CD patients of Gaza strip in light of DQ2 and DQ8 haplotypes expression. METHODS: Unrelated CD patients (n = 101) and matched healthy controls (n = 97) were genotyped for DQA1*05, DQB1*02 and DQB1*03:02 alleles by allele-specific real-time PCR...
November 15, 2017: Auto- Immunity Highlights
https://www.readbyqxmd.com/read/29113008/-drug-therapy-in-coeliac-disease-from-bench-to-bedside
#19
Jürgen Stein, Jörg-Dieter Schulzke, Detlef Schuppan
Coeliac disease is one of the most common diseases worldwide, with an estimated global prevalence of 0.5 - 1 %. The disease is triggered by a combination of environmental (gluten proteins from wheat, rye or barley) and genetic factors (mainly the human leucocyte antigens HLA-DQ2 or -DQ8). At present, a strict gluten-free diet (GFD) represents the only treatment option. However, strict adherence to a GFD is challenging, since even highly motivated patients may be subject to inadvertent or background exposure to gluten...
November 7, 2017: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/29099018/hla-typing-and-celiac-disease-in-moroccans
#20
Daniela Piancatelli, Imane Ben El Barhdadi, Khadija Oumhani, Pierluigi Sebastiani, Alessia Colanardi, Abdellah Essaid
Genetic and environmental factors are responsible for differences in the prevalence of some diseases across countries. Human leukocyte antigen (HLA) allele frequencies in North African populations show some differences in their distribution compared to Europeans, Mediterraneans, and sub-Saharans, and some specific alleles and haplotypes could be clinically relevant. Celiac disease (CD) has been fast increasing in prevalence in North Africa; but few immunogenetic data are available for this area, in which a high prevalence of the disease has been described...
January 6, 2017: Medical Sciences: Open Access Journal
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