Sara Aboulaghras, Daniela Piancatelli, Khalid Taghzouti, Abdelaali Balahbib, Mohammed Merae Alshahrani, Ahmed Abdullah Al Awadh, Khang Wen Goh, Long Chiau Ming, Abdelhakim Bouyahya, Khadija Oumhani
Although people with human leukocyte antigens (HLA) DQ2 and/or DQ8 are more likely to develop celiac disease (CD), the condition cannot be fully explained by this genetic predisposition alone. Multiple, as yet unidentified, factors contribute to the genesis of CD, including genetics, the environment, and the immune system. In order to provide insight into a prospective possibility and an expanded screening technique, we aim to undertake a comprehensive and meta-analytical study of the assessment and distribution of HLA class II (HLA-DQ2/DQ8) in adult CD patients...
January 7, 2023: International Journal of Molecular Sciences
Julie Vandewalle, Aster K Desouter, Bart J Van der Auwera, Sylvie Tenoutasse, Pieter Gillard, Christophe De Block, Bart Keymeulen, Frans K Gorus, Mark Van de Casteele
The HLA region is the major genetic risk determinant of type 1 diabetes. How non-HLA loci contribute to the genetic risk is incompletely understood, but there are indications that at least some impact progression of asymptomatic autoimmunity. We examined whether SNPs in 7 susceptibility loci (INS, SH2B3, PTPN2, PTPN22, CTLA4, CLEC16A and IL2RA) could improve prediction of the progression from single to multiple autoantibody positivity, and from there on to diagnosis. SNPs were genotyped in persistently autoantibody positive relatives by allelic discrimination qPCR and disease progression was studied by multivariate Cox regression analysis...
January 9, 2023: Clinical and Experimental Immunology
Leila Salarian, Mohammad Khavaran, Seyed Mohsen Dehghani, Amirali Mashhadiagha, Seyed Ali Moosavi, Shayan Rezaeianzadeh
BACKGROUND: Celiac disease (CD) is an autoimmune disease caused by gluten intake. Traditionally CD was believed to be a disease of the gut, although a wide range of extra-intestinal manifestations (EIM) was recognized. The exact prevalence of EIM and the associated risk factors have not been well studied. AIM: We aimed to assess the prevalence of EIM in children with CD and their association with human leukocyte antigen (HLA) typing, and pathological and laboratory indices...
January 4, 2023: BMC Pediatrics
Uğur Cem Yilmaz, Ferda Evin, Huseyin Onay, Samim Ozen, Sukran Darcan, Damla Goksen Simsek
OBJECTIVES: Familial transmission is observed in approximately 10% of cases with type 1 diabetes mellitus (T1DM). The most important gene determining susceptibility is the human leukocyte antigen complex (HLA) located on chromosome 6. More than 50 susceptible loci are associated with T1DM susceptibility have been identified in genes other than HLA. In this study, it was aimed to investigate the molecular genetic etiology by whole-exome sequence (WES) analysis in cases with familial T1DM with no or weakly detected HLA tissue type susceptibility...
November 7, 2022: Journal of Pediatric Endocrinology & Metabolism: JPEM
Stephanie Ascough, Rebecca J Ingram, Karen K Y Chu, Stephen J Moore, Theresa Gallagher, Hugh Dyson, Mehmet Doganay, Gökhan Metan, Yusuf Ozkul, Les Baillie, E Diane Williamson, John H Robinson, Bernard Maillere, Rosemary J Boyton, Daniel M Altmann
The causative agent of anthrax, Bacillus anthracis, evades the host immune response and establishes infection through the production of binary exotoxins composed of Protective Antigen (PA) and one of two subunits, lethal factor (LF) or edema factor (EF). The majority of vaccination strategies have focused upon the antibody response to the PA subunit. We have used a panel of humanised HLA class II transgenic mouse strains to define HLA-DR-restricted and HLA-DQ-restricted CD4+ T cell responses to the immunodominant epitopes of PA...
September 20, 2022: Vaccines
Ghisleni Cecilia, Parma Barbara, Cianci Paola, De Paoli Anita, Pangallo Elisabetta, Agovino Teresa, Cereda Anna, Bedeschi Maria Francesca, Villa Roberta, Fossati Chiara, Modena Piergiorgio, Giudici Carolina, Morando Carla, Memo Luigi, Onesimo Roberta, Zampino Giuseppe, Salvatore Silvia, Agosti Massimo, Selicorni Angelo
Williams-Beuren syndrome is considered to be at increased risk for celiac disease, as for recent literature data and celiac disease guidelines, despite pathogenic mechanisms are still unclear. Our study analyzed the prevalence of autoimmune disorders, HLA DQ2 and/or DQ8 haplotypes, of transglutaminase antibodies and of diagnosis of celiac disease in a cohort of 93 Williams-Beuren syndrome's patients (mean age 21.26 years). Our study showed an increased prevalence of celiac disease equal to 10.8% (10/93 patients)...
October 18, 2022: American Journal of Medical Genetics. Part A
Agnieszka Zubkiewicz-Kucharska, Tatiana Jamer, Joanna Chrzanowska, Katarzyna Akutko, Tomasz Pytrus, Andrzej Stawarski, Anna Noczyńska
Type 1 diabetes (T1D) and celiac disease (CD) coexist very often. Identification of the human leukocyte antigen (HLA) DQ2/DQ8 can confirm the genetic predisposition to CD. Negative result of this test allows to exclude CD with a high probability. It was suggested that in individuals with higher risk of CD, including T1D patients, the implementation of genetic testing should reduce the number of patients requiring systematic immunological screening. The aim of this study was to analyze the prevalence of different haplotypes predisposing to CD in children and adolescents with previously diagnosed T1D...
September 12, 2022: Diabetology & Metabolic Syndrome
Valérie Abadie, Chaitan Khosla, Bana Jabri
The design and use of mouse models that reproduce key features of human diseases are critical to advance our understanding of the pathogenesis of autoimmune diseases and to test new therapeutic strategies. Celiac disease is a unique organ-specific autoimmune-like disorder occurring in genetically susceptible individuals carrying HLA-DQ2 or HLA-DQ8 molecules who consume gluten. The key histological characteristic of the disease in humans is the destruction of the lining of the small intestine, a feature that has been difficult to reproduce in immunocompetent animal models...
August 2022: Current protocols
Lucia Treppiccione, Francesco Maurano, Stefano Rossi, Diomira Luongo, Mauro Rossi
A lifelong gluten-free diet (GFD) is currently the only available therapy for coeliac disease (CD). However, GFD compliance is difficult and alternative strategies are envisaged in the near future. We previously found that wheat gliadin following transamidation by microbial transglutaminase (mTG) does not induce IFN-γ secretion by intestinal T cells from CD patients. Fully transamidated gliadin with lysine ethyl ester can be recovered in a soluble protein fraction (spf) generated by the enzymatic treatment of wheat flour...
August 5, 2022: Food & Function
Fatma İlknur Varol, Emine Çamtosun, Mukadder Ayşe Selimoğlu, Şükrü Güngör
Objective: There is a close relationship between Celiac Disease (CD) and glandular autoimmunity. The aim of this study is to determine the predictive factors for AGD in children with CD. Methods: The study included 228 pediatric patients, who were diagnosed with CD between 2010 and 2019. The cases with AGD(Group-1) and those without AGD (Group-2) and the patients with Type1 diabetes mellitus(T1DM) (Group-A) and those without T1DM(Group-B) were retrospectively reviewed and compared in terms of clinical and laboratory features...
June 30, 2022: Journal of Clinical Research in Pediatric Endocrinology
Anil K Verma, John Mechenro, Chiara Monachesi, Giriprasad Venugopal, Giulia Naspi Catassi, Elena Lionetti, Balakrishnan S Ramakrishna, Carlo Catassi
BACKGROUND: Celiac disease (CD) is an intestinal inflammatory condition caused by the ingestion of gluten peptides in wheat and related grains in individuals carrying HLA-DQ2 and/or HLA-DQ8 genes. In comparison to HLA-DQ8, a higher HLA-DQ2 prevalence is reported in European population where wheat has been the staple food for thousands of years. In non-European population, this pattern of HLA-DQ CD-predisposing gene distribution has not always been found. The aim of this study was to evaluate the HLA-DQ2 and HLA-DQ8 distribution in the native low-gluten consuming southern Indian population...
June 2022: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
Ion Maruntelu, Carmen Monica Preda, Irina Sandra, Doina Istratescu, Andreea Elena Chifulescu, Mircea Manuc, Mircea Diculescu, Adriana Talangescu, Letitia Tugui, Teodora Manuc, Tudor Stroie, Adriana Corina Andrei, Cristian Tieranu, Ileana Constantinescu
BACKGROUND AND AIMS: Celiac disease is characterized by an inappropriate T-cell-mediated response to gluten in small bowel in genetically predisposed individuals, carriers of the DQ2 and/or DQ8 haplotypes of the human leukocyte antigen. The aim of our study was to asses HLA typing in adult patients with celiac disease, in their first degree relatives and in a healthy control group. METHODS: We conducted a prospective observational study on three cohorts: 117 patients diagnosed with celiac disease, 41 first-degree relatives of celiac patients and 57 asymptomatic healthy volunteers...
June 12, 2022: Journal of Gastrointestinal and Liver Diseases: JGLD
Bilal Ahmad Mir, Tahir Majeed, Alka Singh, Mahendra Singh Rajput, Asheesh Kumar, Ashish Chauhan
Celiac disease (CeD) is a chronic, immune-mediated enteropathy that is precipitated by dietary gluten in genetically predisposed individuals expressing HLA-DQ2 and/or HLA-DQ8. In the current clinical practice, there are many serologic studies to aid in the diagnosis of CeD which include autoantibodies like IgA antitissue transglutaminase, antiendomysium, and antideamidated forms of gliadin peptide antibodies. Small intestinal biopsy has long been considered an essential step for the diagnosis of CeD. However, in the recent era, researchers have explored the possibility of CeD screening and diagnosis without endoscopy or biopsy...
2022: BioMed Research International
M Fernández-Mestre, D Padrón-Lowe, E Salazar-Alcalá, F Blanco-Pérez
INTRODUCTION AND AIMS: Celiac disease (CD) is a complex condition, whose main genetic determinant involves HLA molecules, specifically the HLA-DQ2 and/or HLA-DQ8 heterodimers. Nevertheless, the frequency of the alleles encoding those molecules has not been reported in Venezuelan celiac patients. Therefore, the aim of our study was to evaluate the frequency of the HLA-DQB1 alleles in individuals with symptoms suggestive of CD and define the diagnostic markers of the condition in a Venezuelan population...
May 3, 2022: Revista de Gastroenterología de México
João Calado, Mariana Verdelho Machado
Celiac disease (CD) is a systemic disease triggered by gluten ingestion in genetically predisposed individuals. It manifests primarily as an autoimmune enteropathy associated with specific circulating autoantibodies and a human leukocyte antigen haplotype (HLA-DQ2 or HLA-DQ8). It afflicts roughly 1% of the population, though the majority of patients remain undiagnosed. Diarrhea and malabsorption are classic manifestations of CD; however, both children and adults can be paucisymptomatic and present extraintestinal manifestations such as anemia, osteoporosis, and abnormal liver tests...
March 2022: GE Portuguese Journal of Gastroenterology
Marta Wysocka-Mincewicz, Artur Groszek, Filip Ambrozkiewicz, Agnieszka Paziewska, Michalina Dąbrowska, Anna Rybak, Ewa Konopka, Agnieszka Ochocińska, Natalia Żeber-Lubecka, Jakub Karczmarski, Joanna B Bierła, Ilona Trojanowska, Agnieszka Rogowska, Jerzy Ostrowski, Bożena Cukrowska
Patients with type 1 diabetes (T1D) are at increased risk for developing celiac disease (CD). The aim of the study was to assess the usefulness of celiac-specific human leukocyte antigen (HLA) haplotype and the rs3130484 variant of MSH5 gene, a previously described non-HLA variant associated with CD in the Polish population as a first-line screening for CD in T1D pediatric patients. Serological CD screening performed in the T1D group ( n = 248) and healthy controls ( n = 551) allowed for CD recognition in 20 patients (8...
April 15, 2022: Journal of Clinical Medicine
Kaan Demiroren
Celiac disease (CeD) is a chronic autoimmune disorder that is triggered by gluten in genetically susceptible individuals, and that is characterized by CeD-specific antibodies, HLA-DQ2 and/or HLA-DQ8 haplotypes, enteropathy and different clinical pictures related to many organs. Intestinal lymphoma may develop as a result of refractory CeD. If a patient diagnosed with CeD is symptomatic despite a strict gluten-free diet for at least 12 months, and does not improve with severe villous atrophy, refractory CeD can be considered present...
March 24, 2022: World Journal of Clinical Oncology
Elisa Gnodi, Raffaella Meneveri, Donatella Barisani
Celiac disease (CeD) is a multifactorial autoimmune disorder spread worldwide. The exposure to gluten, a protein found in cereals like wheat, barley and rye, is the main environmental factor involved in its pathogenesis. Even if the genetic predisposition represented by HLA-DQ2 or HLA-DQ8 haplotypes is widely recognised as mandatory for CeD development, it is not enough to explain the total predisposition for the disease. Furthermore, the onset of CeD comprehend a wide spectrum of symptoms, that often leads to a delay in CeD diagnosis...
January 28, 2022: World Journal of Gastroenterology: WJG
Sara Aboulaghras, Daniela Piancatelli, Khadija Oumhani, Abdelaali Balahbib, Abdelhakim Bouyahya, Khalid Taghzouti
Celiac disease (CD) is a chronic inflammatory enteropathy caused by gluten (protein from wheat, rye and, barley) in genetically predisposed individuals carrying the HLA-DQ2/HLA-DQ8 genotype. This pathology has a multifactorial etiology in which HLA genes, the microbiome, gluten and, other environmental factors are involved in the development of the disease. Its pathogenesis involves both innate and adaptive immunity as well as upregulation of IL-15. The objective of this review is to examine the results of current studies on genetic and environmental variables to better understand the pathogenesis of this enteropathy...
March 1, 2022: Clinica Chimica Acta; International Journal of Clinical Chemistry
Cui-Ping Liang, Lan-Lan Geng, Pei-Yu Chen, Hui-Wen Li, Lu Ren, Si-Tang Gong
OBJECTIVE: The prevalence of celiac disease (CD) varies geographically and ethnically; however, the prevalence among children in South China remains unknown. We therefore determined the occurrence of CD among Chinese children in South China. METHODS: Serum samples were collected from children and assessed for anti-tissue transglutaminase IgA antibodies (anti-tTG-IgA) and total IgA. Anti-tTG-IgA+ participants underwent human leukocyte antigen (HLA) DQ2/DQ8 determination...
February 2022: Journal of International Medical Research
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