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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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.
GWAS does not require the identification of the target gene involved in...
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...
Diabetes Mellitus: Type 2 and Gestational01:22

Diabetes Mellitus: Type 2 and Gestational

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...
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.
Type II Diabetes Mellitus III: Clinical Manifestations and Diagnosis01:25

Type II Diabetes Mellitus III: Clinical Manifestations and Diagnosis

Type 2 diabetes mellitus develops gradually and is often asymptomatic in early stages.Clinical ManifestationsWhen symptoms appear, they include fatigue, blurred vision, pruritus, delayed wound healing, and recurrent infections, particularly candidal infections. Peripheral neuropathy may present as numbness or tingling in the extremities. Classic hyperglycemia symptoms—polyuria, polydipsia, and polyphagia—are less common. Most patients are overweight and frequently have associated hypertension...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

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Related Experiment Video

Updated: Jul 2, 2026

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

Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.

Mandy van Hoek1, Abbas Dehghan, Jacqueline C M Witteman

  • 1Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands.

Diabetes
|August 13, 2008
PubMed
Summary

Genetic testing for type 2 diabetes risk shows limited predictive value in the general population. While some genetic variants are associated with the disease, they offer only a marginal improvement over clinical factors for predicting future type 2 diabetes.

Related Experiment Videos

Last Updated: Jul 2, 2026

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

Area of Science:

  • Genetics
  • Epidemiology
  • Preventive Medicine

Background:

  • Genome-wide association (GWA) studies have identified numerous genetic variants linked to type 2 diabetes (T2D).
  • The clinical utility of genetic testing for T2D risk prediction in the general population remains uncertain.
  • Early identification of high-risk individuals could potentially improve T2D management.

Purpose of the Study:

  • To evaluate the predictive value of 18 established genetic polymorphisms for type 2 diabetes in a prospective, population-based cohort.
  • To assess whether genetic testing improves T2D risk prediction beyond traditional clinical characteristics.

Main Methods:

  • Prospective, population-based study (Rotterdam Study) including 6,544 Caucasian individuals aged 55+.
  • Genotyped 18 T2D-associated polymorphisms identified by GWA studies.
  • Used logistic and Cox regression analyses to assess predictive value, alone and with clinical factors (age, sex, BMI).
  • Evaluated model discriminative accuracy using area under the receiver operating characteristic curves (AUCs).

Main Results:

  • Nine of the 18 polymorphisms were significantly associated with T2D risk in the study population.
  • Genetic polymorphisms alone had an AUC of 0.60 for T2D prediction.
  • Clinical characteristics (age, sex, BMI) yielded an AUC of 0.66.
  • Combining genetic polymorphisms with clinical characteristics resulted in a modest improvement, with an AUC of 0.68.

Conclusions:

  • This population-based study confirmed the association of 9 genetic risk variants with type 2 diabetes.
  • The combined predictive value of these genetic variants for future T2D is low in a general population setting.
  • Genetic polymorphisms offer only a marginal enhancement in T2D prediction when added to established clinical risk factors.