keyword
https://read.qxmd.com/read/38454981/celiac-disease-pathogenesis-disease-management-and-new-insights-into-the-herbal-based-treatments
#1
REVIEW
Pooja Mittal, Disha Arora, Smriti Parashar, Rajat Goyal, Amir Khan, Hitesh Chopra, Dinesh K Mishra, Rupesh K Gautam, Kuldeep Dhama
Celiac disease (CD) is a gluten intolerance autoimmune disorder which its symptoms involve the gastrointestinal tract and sometimes the other organs. It is one of the most prevalent health problems rising in many populations as statistics show that in every 100 people about one person is suffering from CD. It has been observed that the persons who genetically contain the human leukocyte antigen (HLA) DQ2 and HLA DQ8 genes involved in the immune system haplotypes are more prone to develop an allergy to gluten...
August 2023: Narra J
https://read.qxmd.com/read/38444380/celiac-disease-a-review-from-genetic-to-treatment
#2
JOURNAL ARTICLE
Erfaneh Jafari, Niloufar Soleymani, Masoud Hamidi, Azar Rahi, Akram Rezaei, Reza Azizian
Celiac disease is a complex disorder influenced by genetic and environmental factors. When people with a genetic predisposition to CD consume gluten, an inflammatory response is triggered in the small intestine, and this reaction can be alleviated by the elimination of gluten from the diet. The clinical manifestations of CD vary greatly from person to person and begin at a young age or in adulthood. Influence of genetic factors on CD development is evident in carriers of the DQ2 and/or DQ8 allele. HLA genotypes are associated with gut colonization by bacteria, particularly in individuals suffering from CD...
December 2, 2023: Iranian Biomedical Journal
https://read.qxmd.com/read/38432123/evaluation-of-hla-dq2-and-hla-dq8-haplotypes-in-patients-with-endometriosis-a-case-control-study
#3
JOURNAL ARTICLE
Marina P Andres, Alessandra Peloggia, Henrique M Abrao, Thais F Magalhaes, João Siufi Neto, Mauricio Simões Abrão
OBJECTIVE: To evaluate the relationship between genetic haplotypes associated with celiac disease (Human Leucocyte Antigen [HLA] DQ2 and DQ8) with the diagnosis, clinical presentation, and location of endometriosis in Brazilian women. METHOD: A retrospective cross-sectional study, was conducted in a Tertiary hospital. PATIENTS: Women aged 18-50 years who underwent HLA-DQ2 and HLA-DQ8 haplotype analysis. INTERVENTION: The patients were divided into endometriosis and control groups and evaluated for symptoms; endometriosis location, American Society for Reproductive Medicine (ASRM) stage, and the presence of anti-tissue transglutaminase IgA (anti-TgA), HLA-DQ2, and HLA-DQ8 markers...
2024: Clinics
https://read.qxmd.com/read/38336920/tolerance-inducing-therapies-in-coeliac-disease-mechanisms-progress-and-future-directions
#4
REVIEW
Ludvig M Sollid
Coeliac disease is an autoinflammatory condition caused by immune reactions to cereal gluten proteins. Currently, the only available treatment for the condition is a lifelong avoidance of gluten proteins in the diet. There is an unmet need for alternative therapies. Coeliac disease has a strong association with certain HLA-DQ allotypes (DQ2.5, DQ2.2 and DQ8), and these disease-associated HLA-DQ molecules present deamidated gluten peptides to gluten-specific CD4+ T cells. The gluten-specific CD4+ T cells are the drivers of the immune reactions leading to coeliac disease...
February 9, 2024: Nature Reviews. Gastroenterology & Hepatology
https://read.qxmd.com/read/38286391/diagnosis-of-seronegative-and-ultrashort-celiac-disease
#5
JOURNAL ARTICLE
Umberto Volta, Kamran Rostami, Renata Auricchio, Knut E A Lundin
Nowadays celiac disease (CD) in its conventional form, characterized by both positive serology and flat villi in the duodenum, is well known by gastroenterologists and general practitioners. The aim of the present review is to shed light on two neglected and not yet well defined celiac phenotypes, i.e. seronegative and ultrashort celiac disease. Seronegative celiac disease can be suspected in the presence of flat villi, positive HLA-DQ2 and/or -DQ8 and absence of CD antibodies. After having ruled out other seronegative enteropathies, the diagnosis can be confirmed by both clinical and histological improvement after 1-year of gluten-free diet...
January 27, 2024: Gastroenterology
https://read.qxmd.com/read/38282605/oral-administration-of-bifidobacterium-longum-es1-reduces-endometrial-inflammation-in-women-with-recurrent-pregnancy-loss
#6
JOURNAL ARTICLE
Chiara Tersigni, Greta Barbaro, Roberta Castellani, Marianna Onori, Chiara Granieri, Giovanni Scambia, Nicoletta Di Simone
BACKGROUND: Over-activation of endometrial inflammasome NALP-3 (Nod-like receptor family pyrin domain containing 3) can be found in recurrent pregnancy loss (RPL) women probably due to leaky gut and passage into circulation of lipopolysaccharides (LPS). Leaky gut can be caused by exposure to gluten in RPL women genetically predisposed to celiac disease, positive for Human Leukocyte Antigen (HLA)-DQ2/DQ8 haplotype. Oral administration of Bifidobacterium longum ES1 (GliadinES®) can inactivate gluten peptides toxicity to epithelial gut cells and improve gut barrier...
January 2024: American Journal of Reproductive Immunology: AJRI
https://read.qxmd.com/read/38257197/modeling-peptide-protein-interactions-by-a-logo-based-method-application-in-peptide-hla-binding-predictions
#7
JOURNAL ARTICLE
Irini Doytchinova, Mariyana Atanasova, Antonio Fernandez, F Javier Moreno, Frits Koning, Ivan Dimitrov
Peptide-protein interactions form a cornerstone in molecular biology, governing cellular signaling, structure, and enzymatic activities in living organisms. Improving computational models and experimental techniques to describe and predict these interactions remains an ongoing area of research. Here, we present a computational method for peptide-protein interactions' description and prediction based on leveraged amino acid frequencies within specific binding cores. Utilizing normalized frequencies, we construct quantitative matrices (QMs), termed 'logo models' derived from sequence logos...
January 5, 2024: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://read.qxmd.com/read/38212662/blood-donor-biobank-as-a-resource-in-personalised-biomedical-genetic-research
#8
JOURNAL ARTICLE
Jonna Clancy, Jarmo Ritari, Eevaleena Vaittinen, Mikko Arvas, Silja Tammi, Satu Koskela, Jukka Partanen
Health questionnaires and donation criteria result in accumulation of highly selected individuals in a blood donor population. To understand better the usefulness of a blood donor-based biobank in personalised disease-associated genetic studies, and for possible personalised blood donation policies, we evaluated the occurrence and distributions of common and rare disease-associated genetic variants in Finnish Blood Service Biobank. We analysed among 31,880 blood donors the occurrence and geographical distribution of (i) 53 rare Finnish-enriched disease-associated variants, (ii) mutations assumed to influence blood donation: four Bernard-Soulier syndrome and two hemochromatosis mutations, (iii) type I diabetes risk genotype HLA-DQ2/DQ8...
January 12, 2024: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38202724/assessment-of-novel-proteins-triggering-celiac-disease-via-docking-based-approach
#9
JOURNAL ARTICLE
Mariyana Atanasova, Ivan Dimitrov, Antonio Fernandez, Javier Moreno, Frits Koning, Irini Doytchinova
Human leukocyte antigens (HLAs) are pivotal in antigen processing, presenting to CD4+ T cells, and are linked to autoimmune disease susceptibility. In celiac disease, HLA-DQ2.5 and HLA-DQ8.1 bind gluten peptides on APCs, some recognized by CD4+ T cells, prompting inflammation and tissue damage. While extensively studied experimentally, these alleles lack comprehensive in silico analysis. To explore peptide-HLA preferences, we used molecular docking on peptide libraries, deriving quantitative matrices (QMs) for evaluating amino acids at nine-residue peptide binding cores...
December 26, 2023: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://read.qxmd.com/read/38169703/islet-transplantation-outcomes-in-type-1-diabetes-and-transplantation-of-hla-dq8-dr4-results-of-a-single-centre-retrospective-cohort-in-canada
#10
JOURNAL ARTICLE
Shareen Forbes, Anne Halpin, Anna Lam, Don Grynoch, Richard Parker, Luis Hidalgo, David Bigam, Blaire Anderson, Khaled Dajani, Tatsuya Kin, Doug O'Gorman, Peter A Senior, Patricia Campbell, A M James Shapiro
BACKGROUND: In solid organ transplantation, HLA matching between donor and recipient is associated with superior outcomes. In islet transplantation, an intervention for Type 1 diabetes, HLA matching between donor and recipient is not performed as part of allocation. Susceptibility to Type 1 diabetes is associated with the presence of certain HLA types. This study was conducted to determine the impact of these susceptibility antigens on islet allograft survival. METHODS: This is a single-centre retrospective cohort study...
January 2024: EClinicalMedicine
https://read.qxmd.com/read/38153308/uk-neqas-and-bshi-guideline-laboratory-testing-and-clinical-interpretation-of-hla-genotyping-results-supporting-the-diagnosis-of-coeliac-disease
#11
JOURNAL ARTICLE
Deborah Pritchard, Arthi Anand, Amy De'Ath, Helena Lee, Margaret Tracey Rees
Coeliac disease is a common immune-mediated inflammatory disorder caused by dietary gluten in genetically susceptible individuals. While the diagnosis of coeliac disease is based on serological and histological criteria, HLA-DQ genotyping can be useful, especially in excluding the diagnosis in patients who do not carry the relevant DQ heterodimers: DQA1*05 DQB1*02, DQB1*03:02 or DQA1*02 DQB1*02 (commonly referred to as DQ2.5, DQ8 and DQ2.2, respectively). External quality assessment results for HLA genotyping in coeliac disease have revealed concerning errors in HLA genotyping, reporting and clinical interpretation...
December 28, 2023: International Journal of Immunogenetics
https://read.qxmd.com/read/38044022/associations-of-dietary-patterns-between-age-9-and-24-months-with-risk-of-celiac-disease-autoimmunity-and-celiac-disease-among-children-at-increased-risk
#12
JOURNAL ARTICLE
Elin M Hård Af Segerstad, Lazarus K Mramba, Xiang Liu, Ulla Uusitalo, Jimin Yang, Jill Norris, Suvi M Virtanen, Edwin Liu, Kalle Kurppa, Sibylle Koletzko, Annette G Ziegler, Jorma Toppari, Marian Rewers, Beena Akolkar, Jeffrey P Krischer, Carin Andrén Aronsson, Daniel Agardh
BACKGROUND: Higher gluten intake in childhood is associated with increased incidence of celiac disease autoimmunity (CDA) and celiac disease. It remains to be studied whether different dietary patterns independent of gluten intake contribute to the incidence. OBJECTIVES: This study aimed to explore associations of dietary patterns by age 2 y with risk of CDA and celiac disease in genetically susceptible children. METHODS: Data was used from 6726 participants at genetic risk of type 1 diabetes and celiac disease enrolled in the observational cohort, The Environmental Determinants of Diabetes in the Young (TEDDY) study...
December 2023: American Journal of Clinical Nutrition
https://read.qxmd.com/read/38003999/role-of-human-leukocyte-antigen-class-ii-in-antibody-mediated-skin-disorders
#13
REVIEW
Alvise Sernicola, Roberto Mazzetto, Jacopo Tartaglia, Christian Ciolfi, Paola Miceli, Mauro Alaibac
HLA class II molecules are key factors determining susceptibility to autoimmune disorders, and their role in immune-mediated skin conditions such as psoriasis has been extensively investigated. However, there is currently little understanding of their role in antibody-mediated skin diseases such as autoimmune blistering disorders. We researched the available literature using PubMed to narratively review the current knowledge on HLA associations in antibody-mediated blistering skin pathologies. Our results summarized the risk alleles that are identified in the literature, together with certain known protective alleles: in the pemphigus group, alleles HLA-DQB1*0503 and HLA-DRB1*0402 are most commonly associated with disease; in the pemphigoid group, the most studied allele is HLA-DQB1*0301; in epidermolysis bullosa acquisita, few genetic studies are available; in dermatitis herpetiformis, the association with haplotypes HLA-DQ2 and HLA-DQ8 is strongly established; finally, in linear IgA bullous disease, specific HLA alleles may be responsible for pediatric presentations...
November 4, 2023: Medicina
https://read.qxmd.com/read/37937194/population-genetics-and-external-proficiency-testing-for-hla-disease-associations
#14
REVIEW
Frantisek Mrazek
Numerous associations of HLA variants with susceptibility to diseases, namely, those with an immunopathological component, have been described to date. The strongest HLA associations were incorporated into the standard algorithms for the diagnostics. Disease-associated HLA variants are routinely detected by various techniques including DNA-based assays. For the identification of HLA markers or their combinations with the highest diagnostic value and those with frequent clinical indications (e.g., HLA-B*27, -B*57:01, -DQ2/-DQ8, -DQB1*06:02), diagnostic tests that focus on a single or limited number of specific HLA antigens/alleles, have already been developed; the use of complete typing for particular HLA loci is a relevant alternative...
2023: Frontiers in Genetics
https://read.qxmd.com/read/37895421/the-role-of-intestinal-microbiota-in-celiac-disease-and-further-therapeutic-perspectives
#15
REVIEW
Oana Belei, Iulius Jugănaru, Diana-Georgiana Basaca, Andrei Ioan Munteanu, Otilia Mărginean
Celiac disease (CD) is an immune-mediated enteropathy caused by exposure to gluten and related prolamins in genetically susceptible individuals. It is a complex genetic disorder with multiple contributing genes. Linkage studies have identified several genomic regions that probably contain CD susceptibility genes. The most important genetic factors are HLA-DQ2 and DQ8. Several known environmental triggers promote the onset of CD at any age after gluten introduction in individuals with a genetic background, such as viral infections and intestinal dysbiosis...
October 11, 2023: Life
https://read.qxmd.com/read/37769786/specific-t-cell-receptor-beta-rearrangements-of-gluten-triggered-cd8-t-cells-are-enriched-in-celiac-disease-patients-duodenal-mucosa
#16
JOURNAL ARTICLE
V Seitz, K Gennermann, S Elezkurtaj, D Groth, S Schaper, A Dröge, N Lachmann, E Berg, D Lenze, A A Kühl, C Husemann, K Kleo, D Horst, V Lennerz, S Hennig, M Hummel, M Schumann
Celiac disease (CeD) is an autoimmune disorder affecting the small intestine with gluten as disease trigger. Infections including Influenza A, increase the CeD risk. While gluten-specific CD4+ T-cells, recognizing HLA-DQ2/DQ8 presented gluten-peptides, initiate and sustain the celiac immune response, CD8+ α/β intraepithelial T-cells elicit mucosal damage. Here, we subjected TCRs from a cohort of 56 CeD patients and 22 controls to an analysis employing 749 published CeD-related TCRβ-rearrangements derived from gluten-specific CD4+ T-cells and gluten-triggered peripheral blood CD8+ T-cells...
September 26, 2023: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://read.qxmd.com/read/37764848/is-there-a-time-and-a-place-for-the-gluten-free-diet-in-potential-celiac-disease
#17
REVIEW
Roxana Nemteanu, Andreea Clim, Corina Elena Hincu, Liliana Gheorghe, Irina Ciortescu, Anca Trifan, Alina Plesa
Potential celiac disease (PCD) is characterized by the absence of villous atrophy on duodenal biopsies (Marsh 0 or 1) despite positive celiac serology and HLA DQ2 or DQ8 heterodimers. Recent epidemiological studies report that PCD represents one fifth of the total CD diagnoses. Compared to patients with CD, the majority of adult patients with PCD show lower rates of nutrient deficiencies and extraintestinal symptoms at diagnosis. Recommending a gluten-free diet (GFD) to PCD patients depends on whether they have symptoms or not...
September 20, 2023: Nutrients
https://read.qxmd.com/read/37756315/genetic-variation-in-environmental-enteropathy-and-stunting-in-zambian-children-a-pilot-genome-wide-association-study-using-the-h3africa-chip
#18
JOURNAL ARTICLE
Monica N Mweetwa, Talin Haritunians, Shishir Dube, Kanta Chandwe, Beatrice Amadi, Kanekwa Zyambo, Ta-Chiang Liu, Dermot McGovern, Paul Kelly
PURPOSE: Stunting is known to be heavily influenced by environmental factors, so the genetic contribution has received little attention. Here we report an exploration of genetic influences in stunted Zambian children with environmental enteropathy. METHOD: Children with stunting (LAZ < -2) were enrolled and given nutritional therapy. Those that were non-responsive to therapy were designated as cases, and children with good growth (LAZ > -1) from the same community as controls...
2023: PloS One
https://read.qxmd.com/read/37746961/a-review-of-the-long-term-use-of-proton-pump-inhibitors-and-risk-of-celiac-disease-in-the-context-of-hla-dq2-and-hla-dq8-genetic-predisposition
#19
REVIEW
Alexandra McMillan, Christopher Perez, Amanda E Brooks
Proton pump inhibitors (PPIs) are among the most prescribed and widely used medications; however, the long-term effects of these medications are only beginning to be investigated. Since the introduction of omeprazole in 1989, PPIs have become the first-choice treatment for esophagitis, peptic ulcer disease, Zoster-Ellison syndrome, dyspepsia, and the prevention of ulcers with non-steroidal anti-inflammatory drugs. Recent studies have specifically examined the rise in celiac disease (CD) in this context. This review explores how PPIs may impact the development of CD and highlights the need for additional research into the environmental and genetic factors that influence the development and progression of the disease...
September 22, 2023: Medicine (Baltimore)
https://read.qxmd.com/read/37625882/elucidating-the-role-of-microbes-in-celiac-disease-through-gnotobiotic-modeling
#20
JOURNAL ARTICLE
Alberto Caminero, Elena F Verdu, Heather J Galipeau
Celiac disease (CeD) is a common immune-mediated disease triggered by the ingestion of gluten in genetically predisposed individuals. CeD is unique in that the trigger (gluten), necessary genes (HLA-DQ2 and DQ8), and the autoantigen (tissue transglutaminase) have been identified, allowing additional environmental co-factors, like the intestinal microbiota, to be studied through relevant in vivo models. Murine models for CeD have come a long way in the past decade and there are now in vitro and in vivo tools available that mimic certain aspects of clinical disease...
2023: Methods in Cell Biology
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