The main challenge in the "post-GWAS" era is to determine the functional meaning of genetic variants and their contribution to disease pathogenesis. Development of suitable mouse models is critical because disease susceptibility is triggered by complex interactions between genetic, epigenetic, and environmental factors that cannot be modeled by in vitro models. Thyroglobulin (TG) is a key gene for autoimmune thyroid disease (AITD) and several single nucleotide polymorphisms (SNPs) in the TG coding region have been associated with AITD.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
February 2023
Introduction: Autoimmune diabetes occurs more often in the first 2 years of life in children with Down syndrome (DS) compared with the general population. We previously observed increased frequencies of islet autoantibodies, including insulin autoantibodies (IAA), in children with DS. Assays for IAA using I-labelled insulin require competition to overcome cross reactivity with antibodies to the cow's milk protein, bovine serum albumin (BSA).
View Article and Find Full Text PDFAutoimmune thyroid diseases (AITD) represent the most common autoimmune diseases. However, current therapies focus on relieving the symptoms instead of curing AITD, and new therapies to reverse the autoimmune attack on the thyroid are needed. HLA-DRβ1-Arg74 is the key HLA class II allele that triggers AITD by presenting pathogenic thyroglobulin (Tg) peptides that activate thyroid self-reactive T cells.
View Article and Find Full Text PDFBackground: Celiac disease (CD) is a common genetically predisposed autoimmune condition affecting the gut and other organs. Disease awareness is one of the key components of early case identification. This study aimed to assess awareness about CD among primary care physicians, who are the front-liners in suspecting the diagnosis, and other medical specialists.
View Article and Find Full Text PDFGlioma patients with mutant isocitrate dehydrogenase have improved survival; this could be in part due to the suppressive effect of mutant IDH on the level of chronic inflammation. This study aimed to prospectively analyze the association of IDH1 mutation status with preoperative levels of blood inflammatory markers: neutrophil-lymphocyte ratio (NLR), platelet-lymphocyte ratio (PLR), C-reactive protein (CRP), and red cell distribution width (RDW) in gliomas. Receiver operating characteristic curves for cutoff value determination, various bivariate tests, and survival analyses (Kaplan-Meier curves and Cox regression) were performed.
View Article and Find Full Text PDFType 1 diabetes, resulting from the autoimmune destruction of insulin producing islet beta cells is caused by genetic and environmental determinants. Recent studies agree that counterintuitively, the major genetic susceptibility factors are decreasing in frequency as the incidence of the condition increases. This suggests a growing role for environmental determinants but these have been difficult to identify and our understanding of gene/environment effects are limited.
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