Related Experiment Video

Updated: May 22, 2026

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
11:33

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes

Published on: March 12, 2013

E23K polymorphism of the KCNJ11 gene in Korean children with type 1 diabetes

Jung Min Ko1, Seung Yang, Se Young Kim

  • 1Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

World Journal of Pediatrics : WJP
|May 11, 2012
PubMed

Insights

The E23K polymorphism in the KCNJ11 gene was not significantly associated with type 1 diabetes in Korean children. This genetic variant did not influence disease risk or clinical presentation in the studied population.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Type 1 diabetes is an autoimmune disease with a complex genetic component.
  • The KCNJ11 gene encodes the Kir6.2 subunit of ATP-sensitive potassium channels, implicated in insulin secretion.
  • The E23K polymorphism in KCNJ11 has been investigated for its role in various diabetes types.

Purpose of the Study:

  • To investigate the association between the KCNJ11 E23K polymorphism and type 1 diabetes (T1D) in a Korean pediatric cohort.
  • To determine if this specific genetic variation influences the clinical characteristics of T1D in children.

Main Methods:

  • A case-control study involving 70 Korean children diagnosed with type 1 diabetes and a control group.
  • Genotyping of the KCNJ11 E23 locus using DNA analysis.
  • Comparison of genotype frequencies and clinical phenotypes between T1D patients and controls.

Main Results:

  • Genotype frequencies for EE, EK, and KK in the T1D group were 30.0%, 44.3%, and 25.7%, respectively.
  • No statistically significant difference in genotype frequencies was observed between the type 1 diabetes patient group and the control group.
  • Clinical phenotypes within the patient group did not differ significantly across the three KCNJ11 E23K genotypes.

Conclusions:

  • The E23K polymorphism of the KCNJ11 gene shows no statistically significant association with type 1 diabetes in the evaluated Korean population.
  • The study's findings suggest that this specific polymorphism may not be a major genetic risk factor for T1D in this ethnic group.
  • A small sample size was a limitation, warranting further investigation in larger cohorts.
Abstract

More Related Videos

qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes07:58

qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes

Published on: March 6, 2019

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)09:52

Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)

Published on: April 19, 2013

Related Concept Videos

Type II Diabetes I: Introduction01:26

Type II Diabetes I: Introduction

Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by insulin resistance, in which target tissues such as the liver, muscle, and adipose tissue respond poorly to insulin. It is also associated with inadequate compensatory insulin secretion, where pancreatic β-cells fail to produce sufficient insulin. Together, these abnormalities lead to persistent hyperglycemia.EtiologyT2DM develops through a complex interaction of genetic predisposition and environmental or...
Type I Diabetes II: Pathophysiology01:26

Type I Diabetes II: Pathophysiology

Type 1 diabetes mellitus arises from an immune-mediated destruction of pancreatic β-cells, resulting in an absolute deficiency of insulin. This process develops in genetically susceptible individuals when autoimmunity, environmental exposures, and immunologic dysregulation converge to trigger a targeted attack on the insulin-producing cells of the pancreas. The β-cells are located within the islets of Langerhans and are essential for regulating blood glucose by facilitating cellular uptake of...
Type I Diabetes I: Introduction01:12

Type I Diabetes I: Introduction

Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1 diabetes is an...
Type I Diabetes III: Clinical Manifestations01:19

Type I Diabetes III: Clinical Manifestations

Type 1 diabetes mellitus typically presents with rapid-onset symptoms due to the body’s inability to utilize glucose in the absence of insulin. Since insulin is required for glucose uptake into cells, its deficiency leads to hyperglycemia and cellular energy deprivation, resulting in characteristic clinical features.Polyuria and PolydipsiaOne of the earliest, most prominent symptoms is polyuria (excessive urination). When blood glucose concentrations rise above the renal threshold, the kidneys...
Type II Diabetes II: Pathophysiology01:24

Type II Diabetes II: Pathophysiology

PathophysiologyType 2 diabetes mellitus (T2DM ) is a chronic metabolic disorder characterized by insulin resistance and progressive pancreatic β-cell dysfunction, leading to impaired glucose homeostasis. It results from interactions among genetic predisposition, environmental factors, and metabolic stressors, such as overnutrition and a sedentary lifestyle.Insulin Resistance and Glucose DysregulationEarly T2DM involves insulin resistance in skeletal muscle, adipose tissue, and the liver.
Diabetic Ketoacidosis ll: Pathophysiology01:22

Diabetic Ketoacidosis ll: Pathophysiology

Diabetic ketoacidosis (DKA) is a metabolic emergency characterized by hyperglycemia, ketonemia, and metabolic acidosis. It results from severe insulin deficiency and an excess of counterregulatory hormones, leading to uncontrolled lipolysis, ketogenesis, and widespread electrolyte and fluid disturbances.Pathophysiology The central event in DKA is a profound loss of insulin action. Without insulin, glucose uptake in insulin-dependent tissues is impaired, while hepatic glucose production...