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HLA DQ2 DQ8

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https://www.readbyqxmd.com/read/29224923/allele-specific-methylation-of-type-1-diabetes-susceptibility-genes
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/29083384/why-oats-are-safe-and-healthy-for-celiac-disease-patients
#9
REVIEW
Luud J W J Gilissen, Ingrid M van der Meer, Marinus J M Smulders
The water-insoluble storage proteins of cereals (prolamins) are called "gluten" in wheat, barley, and rye, and "avenins" in oat. Gluten can provoke celiac disease (CD) in genetically susceptible individuals (those with human leukocyte antigen (HLA)-DQ2 or HLA-DQ8 serotypes). Avenins are present at a lower concentration (10%-15% of total protein content) in oat as compared to gluten in wheat (80%-85%). The avenins in the genus Avena (cultivated oat as well as various wild species of which gene bank accessions were analyzed) are free of the known CD immunogenic epitopes from wheat, barley, and rye...
November 26, 2016: Medical Sciences: Open Access Journal
https://www.readbyqxmd.com/read/28957985/evidence-supporting-serology-based-pathway-for-diagnosing-coeliac-disease-in-asymptomatic-children-from-high-risk-groups
#10
Siba Prosad Paul, Bhupinder Kaur Sandhu, Christine Helen Spray, Dharamveer Basude, Pramila Ramani
OBJECTIVE: The European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) guidelines for diagnosing coeliac disease (CD) in children were modified in 2012. They recommend that in symptomatic children with anti-tissue transglutaminase antibody (anti-tTG) titre of greater than 10-times upper limit of normal (>10xULN) and who have positive anti-endomysial antibody and HLA-DQ2/DQ8 haplotype, the diagnosis of CD can be based on serology. Aim of this study is to establish whether serology-based pathway of the ESPGHAN guidelines could also be reliably applied to asymptomatic children from high-risk groups...
September 27, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28944073/clinical-and-genetic-profile-of-patients-with-seronegative-coeliac-disease-the-natural-history-and-response-to-gluten-free-diet
#11
Maria Pina Dore, Giovanni Mario Pes, Ivana Dettori, Vincenzo Villanacci, Alessandra Manca, Giuseppe Realdi
OBJECTIVES: Patients with clinical, genetic and histological features of coeliac disease (CD), but negative for serological markers, pose a significant clinical problem. The aim of this study was to outline a specific profile, and to evaluate the natural history and response to gluten-free diet (GFD) of patients with seronegative CD. METHODS: patients with duodenal mucosa damage Marsh I, II and III stages, HLA DQ2/DQ8 haplotype and clinical features suggestive of CD, but negative for CD serology, were defined as seronegative CD patients...
2017: BMJ Open Gastroenterology
https://www.readbyqxmd.com/read/28828296/cardiometabolic-risk-factors-in-children-with-celiac-disease-on-a-gluten-free-diet
#12
REVIEW
Caterina Anania, Lucia Pacifico, Francesca Olivero, Francesco Massimo Perla, Claudio Chiesa
Celiac disease (CD) is an immune-mediated systemic condition evoked by gluten and related prolamines in genetically predisposed subjects. It is characterised by a variable combination of gluten-dependent clinical symptoms, CD-specific antibodies, HLA-DQ2 and HLA-DQ8 haplotypes, and enteropathy. The only therapy of CD consists of a life-long gluten free diet (GFD). Strict GFD adherence results in full clinical, serological and histological remission, avoiding long-term complications in CD patients. However, this diet is not without problems...
August 8, 2017: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/28819290/progress-towards-non-invasive-diagnosis-and-follow-up-of-celiac-disease-in-children-a-prospective-multicentre-study-to-the-usefulness-of-plasma-i-fabp
#13
M P M Adriaanse, A Mubarak, R G Riedl, F J W Ten Kate, J G M C Damoiseaux, W A Buurman, R H J Houwen, A C E Vreugdenhil
This prospective study investigates whether measurement of plasma intestinal-fatty acid binding protein (I-FABP), a sensitive marker for small intestinal epithelial damage, improves non-invasive diagnosing of celiac disease (CD), and whether I-FABP levels are useful to evaluate mucosal healing in patients on a gluten-free diet (GFD). Ninety children with elevated tTG-IgA titres and HLA-DQ2/DQ8 positivity were included (study group). Duodenal biopsies were taken, except in those fulfilling the ESPGHAN criteria...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28810029/celiac-disease-and-nonceliac-gluten-sensitivity-a-review
#14
REVIEW
Maureen M Leonard, Anna Sapone, Carlo Catassi, Alessio Fasano
Importance: The prevalence of gluten-related disorders is rising, and increasing numbers of individuals are empirically trying a gluten-free diet for a variety of signs and symptoms. This review aims to present current evidence regarding screening, diagnosis, and treatment for celiac disease and nonceliac gluten sensitivity. Observations: Celiac disease is a gluten-induced immune-mediated enteropathy characterized by a specific genetic genotype (HLA-DQ2 and HLA-DQ8 genes) and autoantibodies (antitissue transglutaminase and antiendomysial)...
August 15, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28797308/coeliac-disease-in-infants-antibodies-to-deamidated-gliadin-peptide-come-first
#15
Michele Arigliani, Francesca Rech Morassutti, Martina Fabris, Paola Melli, Elio Tonutti, Paola Cogo
BACKGROUND: The onset of coeliac disease (CD) in the first year of life is uncommon and the diagnosis can be challenging due to the suboptimal sensitivity of tissue transglutaminase antibodies (tTG) at this age and the many other possible causes of malabsorption in infants. Antibodies to deamidated gliadin peptides (anti-DGPs), especially IgG, may appear earlier than IgA anti-tTG in very young children with CD. CASE PRESENTATION: We report here on an 8-month-old child who was evaluated for failure to thrive, constipation and developmental delay...
August 10, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28753178/caesarean-section-on-the-risk-of-celiac-disease-in-the-offspring-the-teddy-study
#16
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: Caesarean 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 re-tested after 3-6 months and those persistently positive defined as CDA...
July 27, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28709446/omitting-duodenal-biopsy-in-children-with-suspected-celiac-disease-and-extra-intestinal-symptoms
#17
Mauro Bozzola, Cristina Meazza, Chiara Gertosio, Sara Pagani, Daniela Larizza, Valeria Calcaterra, Ombretta Luinetti, Giovanni Farello, Carmine Tinelli, Lorenzo Iughetti
BACKGROUND: The aim of our study is to evaluate if in children with highly positive serology and HLA-DQ2/DQ8 (triple test, TT) and only extra-intestinal symptoms, it is possible to omit performing an intestinal biopsy for celiac disease (CD) diagnosis, as suggested by the new European Society for Pediatric Gastroenterology, Hepatology and Nutrition ESPGHAN guidelines. METHODS: In this retrospective study a total of 105 patients, suspected of having CD because of extra-intestinal symptoms and showing serum tissue transglutaminase antibody (anti-tTG) and anti-endomysial antibody (EMA) measurements and HLA genotyping, were considered for the final analysis (33 boys and 72 girls; age range 1...
July 15, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28708086/celiac-disease-presenting-with-peripheral-neuropathy-in-children-a-case-report
#18
Alessandra Pacitto, Alessandra Paglino, Lorenza Di Genova, Alberto Leonardi, Edoardo Farinelli, Nicola Principi, Giuseppe di Cara, Susanna Esposito
Background: Clinically relevant neurological manifestations in children with celiac disease (CD) are unusual, especially when they are considered as signs of the onset of the disease. In this paper, a case of Guillain-Barrè syndrome (GBS) as the first manifestation of CD in a 23-month-old child is reported. Case presentation: We describe a case of CD onset with peripheral neuropathy in a 23-month-old Bulgarian boy presenting with a sudden refusal to walk and absence of deep tendon reflexes in both lower limbs...
July 14, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28701370/twenty-year-progression-rate-to-clinical-onset-according-to-autoantibody-profile-age-and-hla-dq-genotype-in-a-registry-based-group-of-children-and-adults-with-a-first-degree-relative-with-type-1-diabetes
#19
Frans K Gorus, Eric V Balti, Anissa Messaaoui, Simke Demeester, Annelien Van Dalem, Olivier Costa, Harry Dorchy, Chantal Mathieu, Luc Van Gaal, Bart Keymeulen, Daniël G Pipeleers, Ilse Weets
OBJECTIVE: We investigated whether islet autoantibody profile, HLA-DQ genotype, and age influenced a 20-year progression to diabetes from first autoantibody positivity (autoAb(+)) in first-degree relatives of patients with type 1 diabetes. RESEARCH DESIGN AND METHODS: Persistently islet autoAb(+) siblings and offspring (n = 462) under 40 years of age were followed by the Belgian Diabetes Registry. AutoAbs against insulin (IAA), GAD (GADA), IA-2 antigen (IA-2A), and zinc transporter 8 (ZnT8A) were determined by radiobinding assay...
August 2017: Diabetes Care
https://www.readbyqxmd.com/read/28638585/clinicopathological-study-of-seronegative-celiac-disease-in-adults-in-pakistan-a-pilot-study
#20
Mohammad Hanif Farina, Rajesh Kumar Mandhwani, Nasir Hassan Luck, Zaigham Abbas, Muhammed Mubarak, S Mudassir Laeeq, Abbas Ali Tasneem
BACKGROUND Celiac disease (CD) is usually missed, if the serology is negative. We aimed to evaluate the clinicopathological characteristics of seronegative CD (SNCD) and its response to gluten-free diet (GFD) in adult patients. METHODS This observational study was carried out at the Department of Hepatogastroenterology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan from 2009 to 2015. All consecutive adult patients (≥17 years) with features of marked villous atrophy (Marsh class≥III) on duodenal biopsy, negative tissue transglutaminase IgA and IgG antibodies (anti-tTg IgA and IgG) and human leukocyte antigen (HLA) DQ2 or DQ8 serotypes were studied...
April 2017: Middle East Journal of Digestive Diseases
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