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Methylation profile of CD247 and FOXP3 genes and frequency of certain HLA-DQ haplotypes in Celiac disease.
Clin Res Hepatol Gastroenterol
February 2025
Faculty of Medicine, Department of Medical Genetics, Sivas Cumhuriyet University 58104 Sivas, Turkey. Electronic address:
Background: Celiac disease is an autoimmune disorder that affects the small intestine in people with gluten intolerance. HLA-DQ2 and DQ8 have been associated with Celiac Disease. CD247 is a subunit of the T cell receptor complex and Forkhead box P3 (FOXP3) is a transcription factor involved in the regulation of the immune response.
View Article and Find Full Text PDFInsulitis and exocrinitis in autoantibody-positive non-diabetic individuals: role of HLA genotypes.
J Clin Endocrinol Metab
January 2025
Université Paris Cité, Institut Cochin, CNRS, INSERM, Paris, France.
Context: Type 1 diabetes (T1D) is characterized by the presence of autoantibodies on a genetic background largely determined by HLA class II haplotypes. Stage 1 T1D is characterized by the presence of multiple autoantibodies and normoglycemia.
Objective: To investigate the prevalence of high-risk HLA-DQB1 haplotypes and the extent of islet autoimmunity in pancreatic tissues from non-diabetic organ donors with autoantibodies.
Gluten-Free Diet Adherence Evaluation in Adults with Long-Standing Celiac Disease.
Foods
December 2024
Department of Digestive Tract Diseases, Medical University of Lodz, 90-153 Lodz, Poland.
Background: Celiac disease (CD) is an autoimmune disease that results from the interaction of genetic, immune, and environmental factors. According to the 2020 European Society for Pediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) guidelines, an elimination diet (i.e.
View Article and Find Full Text PDFRedosing with Intralymphatic GAD-Alum in the Treatment of Type 1 Diabetes: The DIAGNODE-B Pilot Trial.
Int J Mol Sci
January 2025
Division of Pediatrics, Department of Biomedical and Clinical Sciences, Faculty of Medicine and Health Sciences, Linköping University, 581 83 Linköping, Sweden.
Immunotherapies aimed at preserving residual beta cell function in type 1 diabetes have been successful, although the effect has been limited, or raised safety concerns. Transient effects often observed may necessitate redosing to prolong the effect, although this is not always feasible or safe. Treatment with intralymphatic GAD-alum has been shown to be tolerable and safe in persons with type 1 diabetes and has shown significant efficacy to preserve C-peptide with associated clinical benefit in individuals with the human leukocyte antigen DR3DQ2 haplotype.
View Article and Find Full Text PDFCharacteristics of autoantibody-positive individuals without high-risk HLA-DR4-DQ8 or HLA-DR3-DQ2 haplotypes.
Diabetologia
March 2025
University of Miami Miller School of Medicine, University of Miami, Miami, FL, USA.
Aims/hypothesis: Many studies of type 1 diabetes pathogenesis focus on individuals with high-risk HLA haplotypes. We tested the hypothesis that, among islet autoantibody-positive individuals, lacking HLA-DRB1*04-DQA1*03-DQB1*0302 (HLA-DR4-DQ8) and/or HLA-DRB1*0301-DQA1*0501-DQB1*0201 (HLA-DR3-DQ2) is associated with phenotypic differences, compared with those who have these high-risk HLA haplotypes.
Methods: We classified autoantibody-positive relatives of individuals with type 1 diabetes into four groups based on having both HLA-DR4-DQ8 and HLA-DR3-DQ2 (DR3/DR4; n=1263), HLA-DR4-DQ8 but not HLA-DR3-DQ2 (DR4/non-DR3; n=2340), HLA-DR3-DQ2 but not HLA-DR4-DQ8 (DR3/non-DR4; n=1607) and neither HLA-DR3-DQ2 nor HLA-DR4-DQ8 (DRX/DRX; n=1294).
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