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HLA-DQ2

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https://www.readbyqxmd.com/read/29776388/contributions-of-hla-haplotypes-il8-level-and-toxoplasma-gondii-infection-in-defining-celiac-disease-s-phenotypes
#1
Mohammad Rostami-Nejad, Seyed Hossein Hejazi, Amado Salvador Peña, Hamid Asadzadeh-Aghdaei, Kamran Rostami, Umberto Volta, Mohammad Reza Zali
BACKGROUND: It is not clear why some patients with coeliac disease (CD) present with severe symptoms and small intestinal mucosal damages while others present with milder symptoms and no frank enteropathy. There is no study to assess the associated factors with mild/severe symptoms and enteropathy. The terminologies like latent, silent and potential are difficult to use and are unrepresentative. In the present study we describe coeliac disease's phenotypes based on HLA haplotypes, IL8 production and past infection with Toxoplasma gondii (T...
May 18, 2018: BMC Gastroenterology
https://www.readbyqxmd.com/read/29764931/high-rates-of-variation-in-hla-dq2-dq8-testing-for-coeliac-disease-results-from-an-rcpaqap-pilot-program
#2
Martin Patrick Horan, Sze Yee Chai, Nalishia Munusamy, Kwang Hong Tay, Louise Wienholt, Jason A Tye-Din, James Daveson, Michael Varney, Tony Badrick
AIM: Coeliac disease(CD) is a highly prevalent, gluten-dependent, autoimmune enteropathy. While the diagnosis is based on serological and histological criteria, genotyping of the human leucocyte antigens (HLA) DQ2 and DQ8 has been shown to have substantial clinical utility, especially in excluding the diagnosis in patients who do not carry either antigen. As a result, HLA genotyping is now being performed by more laboratories and has recently become one of the most frequently requested genetic tests in Australia...
May 15, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29753576/is-celiac-disease-better-identified-through-hla-dq8-than-through-hla-dq2-in-mexican-subjects
#3
E Cerda-Contreras, K L Ramírez-Cervantes, J Granados, L Mena, C Núñez-Álvarez, L Uscanga
INTRODUCTION AND AIMS: A strong genetic association between celiac disease (CD) and the human leukocyte antigen (HLA) has been widely demonstrated. In Europe, the HLA-DQ2 allele is predominant. However, studies in Latin America indicate that HLA-DQ8 could be more frequent. In Mexico, the frequency of those alleles has not been reported in subjects with CD. Therefore, the aim of the present study was to evaluate the distribution of HLA-DQ2 and HLA-DQ8 in Mexican individuals with CD. MATERIAL AND METHODS: An exploratory study was conducted on a cohort of 49 subjects with chronic diarrhea...
May 9, 2018: Revista de Gastroenterología de México
https://www.readbyqxmd.com/read/29752728/a-retrospective-study-of-dermatitis-herpetiformis-from-an-immunobullous-disease-clinic-in-north-india
#4
Sanjeev Handa, Garima Dabas, Dipankar De, Rahul Mahajan, Debajyoti Chatterjee, Uma N Saika, Bishan D Radotra
BACKGROUND: Indian data on dermatitis herpetiformis (DH) is not available. The aim of this study was to investigate the demographic and clinicopathological characteristics of patients with DH and to study its association with other autoimmune diseases. METHODS: All data were collected from case record forms of patients registered in immunobullous disease clinic of our institute. The diagnosis was based on characteristic clinical and immuno/histopathological features...
May 11, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29752553/influence-of-early-life-parental-severe-life-events-on-the-risk-of-type-1-diabetes-in-children-the-dipis-study
#5
Markus Lundgren, Katarina Ellström, Helena Elding Larsson
AIMS: Stress and severe life events (SLEs) modify autoimmune disease susceptibility. Here, we aimed to establish if SLEs reported by parents during the first 2 years of life influence the risk of developing type 1 diabetes (T1D) using data from the prospective Diabetes Prediction in Skåne (DiPiS) study. METHODS: Prospective questionnaire data recorded at 2 months (n = 23,187) and 2 years of age (n = 3784) from the DiPiS cohort of children were included in the analysis...
May 12, 2018: Acta Diabetologica
https://www.readbyqxmd.com/read/29722267/recommendations-to-report-and-interpret-hla-genetic-findings-in-coeliac-disease
#6
Concepción Núñez, José Antonio Garrote, Eduardo Arranz, José Ramón Bilbao, Fernando Fernández Bañares, Juana Jiménez, Teresa Perucho, Eva Ruiz Casares, Félix Sánchez-Valverde, Nacho Serrano
Coeliac disease (CD) is a chronic autoimmune enteropathy triggered by gluten and related prolamines in genetically predisposed individuals. Although CD is a polygenic disease, there is a strong association with genes of the human leukocyte antigen (HLA) region. Most patients present the HLA-DQ2 heterodimer, specifically the DQ2.5 isoform, which is present in around 90-96% of patients of European ancestry.
May 3, 2018: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/29699404/hla-dq-distribution-and-risk-assessment-of-celiac-disease-in-a-spanish-center
#7
Eva Martínez-Ojinaga, Manuel Molina, Isabel Polanco, Elena Urcelay, Concepción Núñez
AIMS: celiac disease is a multisystem immune-mediated disease triggered by gluten in genetically susceptible individuals. The HLA-DQ2 and/or HLA-DQ8 heterodimers are encoded by the main genetic predisposing factors and their presence is required for the development of the immunological response that leads to the disease. However, the HLA-conferred risk can differ within different countries. The aim of the study was to analyze the risk of Spanish children to develop celiac disease according to their HLA-DQ genotype...
April 27, 2018: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/29699403/ten-years-of-follow-up-of-the-spanish-cohort-of-the-european-preventcd-study-the-lessons-learned
#8
Paula Crespo Escobar, Gemma Castillejo, Eva Martínez-Ojinaga, Ester Donat, Isabel Polanco, María Luisa Mearin, Carmen Ribes-Koninckx
AIM: to evaluate the influence of gluten consumption on celiac disease development and to describe its natural history in the Spanish cohort of the European PreventCD study. METHODS: prospective multi-center double blind study of 225 children that were followed up from birth. All cases were HLA-DQ2/HLA-DQ8 positive with a 1st degree relative with celiac disease and were followed up in three centers from Madrid, Reus and Valencia. Gluten intake was determined between four and ten months according to the protocol...
April 27, 2018: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/29672211/increased-prevalence-of-pathogenic-bacteria-in-the-gut-microbiota-of-infants-at-risk-of-developing-celiac-disease-the-proficel-study
#9
Marta Olivares, Alfonso Benítez-Páez, Giada de Palma, Amalia Capilla, Esther Nova, Gemma Castillejo, Vicente Varea, Ascensión Marcos, José Antonio Garrote, Isabel Polanco, Ester Donat, Carmen Ribes-Koninckx, Carmen Calvo, Luis Ortigosa, Francesc Palau, Yolanda Sanz
Celiac disease (CD) is an immune-mediated enteropathy involving genetic and environmental factors, whose interaction influences disease risk. The intestinal microbiota, including viruses and bacteria, could play a role in the pathological process leading to gluten intolerance. In this study, we investigated the prevalence of pathogens in the intestinal microbiota of infants at familial risk of developing CD. We included 127 full-term newborns with at least one first-degree relative with CD. Infants were classified according to milk-feeding practice (breastfeeding or formula feeding) and HLA-DQ genotype (low, intermediate or high genetic risk)...
April 19, 2018: Gut Microbes
https://www.readbyqxmd.com/read/29561984/prevalence-of-celiac-disease-predisposing-genotypes-including-hla-dq2-2-variant-in-brazilian-children
#10
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
#11
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
#12
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...
May 2018: Diabetes Care
https://www.readbyqxmd.com/read/29516402/role-of-human-leukocyte-antigens-hla-in-autoimmune-diseases
#13
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...
June 2018: Rheumatology and Therapy
https://www.readbyqxmd.com/read/29493637/-genotyping-in-patients-affected-by-hla-related-diseases-app-development-for-diagnostic-support
#14
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
#15
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...
May 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29458095/rapid-loop-mediated-isothermal-amplification-detection-of-celiac-disease-risk-alleles
#16
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 celiac 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...
May 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
#17
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/29413889/profiling-celiac-disease-related-transcriptional-changes
#18
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
#19
RANDOMIZED CONTROLLED TRIAL
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...
March 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
#20
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. Single nucleotide polymorphism (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...
April 2018: HLA
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