Read by QxMD icon Read

Hla dq2. Hla dq8

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"