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Introduction: The insulin gene variable number of tandem repeats (INS VNTR) class III allele has been implicated in lower birth weight, obesity, and insulin resistance. We assessed its influence on birth weight in the Polish population and on the current body mass and metabolic profile in prepubertal children born small for gestational age (SGA).
Material And Methods: DNA for genotyping of INS VNTR was available for 123 subjects born SGA and 132 born appropriate for gestational age (AGA). We identified two alleles: class I and class III. Next, in 112 prepubertal (aged: 6.8 ± 1.38 years) SGA children, the auxological measurements, fasting serum C-peptide, triglycerides, cholesterol, ghrelin, leptin, adiponectin, resistin, cortisol, and insulin-like growth factor type I (IGF-I) concentrations, as well as glucose and insulin during oral glucose tolerance test (OGTT), were assessed and insulin resistance indices were calculated. The results were analysed depending on INS VNTR variants.
Results: The occurrence of individual INS VNTR variants were similar in the SGA and AGA groups. In prepubertal SGA children, we did not observe any statistical differences as regards birth weight, body mass, lipids, or adipocytokine concentrations among I/I, I/III, and III/III class groups. The concentration of insulin in 120' of OGTT was significantly higher in class III homozygous than in class I homozygous individuals.
Conclusions: Variant INS VNTR class III was shown not to be associated in any essential way with birth weight in the Polish population. Among prepubertal SGA children, the presence of INS VNTR class III is related to higher insulin secretion during OGTT. (Endokrynol Pol 2016; 67 (6): 585-591).
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http://dx.doi.org/10.5603/EP.2016.0068 | DOI Listing |
J Clin Endocrinol Metab
April 2025
Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.
Context: INS-VNTR class I haplotype controls INS expression in thymus that might contribute to insulin tolerance induction.
Objective: We investigate the functional activities of differential tandem repeat units (TRUs) derived from insulin autoantibody-positive and -negative T1D patients.
Methods: INS-VNTR class I haplotypes derived from 28 gender, age, and HLA matched T1D patients' DNA samples were PCR amplified and subcloned into pGL3-luciferase vector.
Vet Pathol
September 2025
University of Zurich, Zurich, Switzerland.
Paratuberculosis is an infection with ssp. (MAP) causing chronic enteritis in domestic and wild ruminants worldwide. In goats, the infection is caused by C (cattle)-type and S (sheep)-type strains.
View Article and Find Full Text PDFHum Mol Genet
May 2024
Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Jonas Lies vei 91B, 5021 Bergen, Norway.
The CEL gene encodes carboxyl ester lipase, a pancreatic digestive enzyme. CEL is extremely polymorphic due to a variable number tandem repeat (VNTR) located in the last exon. Single-base deletions within this VNTR cause the inherited disorder MODY8, whereas little is known about VNTR single-base insertions in pancreatic disease.
View Article and Find Full Text PDFJ Endocrinol Invest
March 2024
Facultad de Medicina, Universidad Nacional Autónoma de México, Coyoacán, 04510, Mexico City, México.
Purpose: A variable number of tandem repeats (VNTR) in the insulin gene (INS) control region may be involved in type 2 diabetes (T2D). The TH01 microsatellite is near INS and may regulate it. We investigated whether the TH01 microsatellite and INS VNTR, assessed via the surrogate marker single nucleotide polymorphism rs689, are associated with T2D and serum insulin levels in a Mexican population.
View Article and Find Full Text PDFFront Immunol
August 2022
Center for Translational Immunology, Benaroya Research Institute at Virginia Mason, Seattle, WA, United States.
Genetic variants associated with susceptibility to autoimmune disease have provided important insight into the mechanisms responsible for the loss of immune tolerance and the subsequent development of autoantibodies, tissue damage, and onset of clinical disease. Here, we review how genetic variants shared across multiple autoimmune diseases have contributed to our understanding of global tolerance failure, focusing on variants in the human leukocyte antigen region, PTPN2 and PTPN22, and their role in antigen presentation and T and B cell homeostasis. Variants unique to a specific autoimmune disease such as those in PADI2 and PADI4 that are associated with rheumatoid arthritis are also discussed, addressing their role in disease-specific immunopathology.
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