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Related Concept Videos

Diabetes Mellitus: Overview and Type I Subtype01:22

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Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
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Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
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For most patients, experiencing several weeks of polyuria, polydipsia, fatigue, and significant weight loss may indicate the presence of diabetes. Furthermore, adults displaying the phenotypic appearance of type 2 diabetes (particularly those who are obese and not initially insulin-requiring), may have islet cell autoantibodies, suggesting autoimmune-mediated β cell destruction and a diagnosis of latent autoimmune diabetes of adults (LADA). The categorization of glucose homeostasis is...
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Carbohydrates are polymers composed of molecules containing atoms of carbon, hydrogen and oxygen. One gram of carbohydrate can provide four kilo-calories of energy, which makes it the most efficient instant energy source.
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Related Experiment Video

Updated: Nov 20, 2025

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing ChIP-seq
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De-coding genetic risk variants in type 1 diabetes.

Melanie R Shapiro1, Puchong Thirawatananond1, Leeana Peters1

  • 1Department of Pathology, Immunology, and Laboratory Medicine, College of Medicine, Diabetes Institute, University of Florida, Gainesville, FL, 32610, USA.

Immunology and Cell Biology
|January 23, 2021
PubMed
Summary

Genetic variants significantly influence type 1 diabetes (T1D) risk, impacting immunity and beta-cell function. Understanding these genetic factors is crucial for developing precision medicine approaches to prevent or manage T1D progression.

Keywords:
coding varianthumanprecision medicinerisk genesingle nucleotide polymorphismtype 1 diabetes

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Area of Science:

  • Immunogenetics
  • Molecular Genetics
  • Diabetes Research

Background:

  • Genetic predisposition to type 1 diabetes (T1D) is well-established, with major contributions from HLA class II and INS gene regions.
  • The functional roles of numerous polygenic risk variants remain incompletely understood, influencing disease heterogeneity and outcomes.

Purpose of the Study:

  • To review T1D-associated coding variants in specific genes (PTPN22, IFIH1, SH2B3, CD226, TYK2, FUT2, SIRPG, CTLA4, CTSH, UBASH3A).
  • To explore the functional impact of these variants on immune responses and beta-cell function.
  • To discuss their contribution to T1D staging and potential as precision medicine targets.

Main Methods:

  • Literature review of T1D-associated coding variants.
  • Analysis of data from genotype-selected human cohorts.
  • Integration of findings from non-obese diabetic (NOD) mouse models.

Main Results:

  • Summarized functional impacts of variants in PTPN22, IFIH1, SH2B3, CD226, TYK2, FUT2, SIRPG, CTLA4, CTSH, and UBASH3A.
  • Highlighted variant effects on innate/adaptive immunity and beta-cell fragility.
  • Discussed expression profiles and contributions to T1D staging and environmental interactions.

Conclusions:

  • Genetic variants play a critical role in T1D pathogenesis, influencing immune system function and beta-cell vulnerability.
  • These variants offer potential targets for precision medicine strategies aimed at preventing or halting T1D development.