Related Experiment Video
Updated: Jul 18, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Norepinephrine transporter gene (NET) polymorphism in patients with type 2 diabetes
Piotr Ksiazek1, Kinga Buraczynska, Monika Buraczynska
1Laboratory for Molecular Diagnostics of Multifactorial Diseases, Department of Nephrology, Skubiszewski Medical University, Lublin, Poland.
Kidney & Blood Pressure Research
|November 25, 2006
Summary
The G1287A polymorphism in the norepinephrine transporter (NET) gene is not associated with type 2 diabetes. However, this NET gene variant may increase susceptibility to hypertension in diabetic patients.
Area of Science:
- Genetics
- Cardiovascular Disease
- Metabolic Disorders
Background:
- Norepinephrine transporter (NET) regulates norepinephrine (NE) metabolism.
- NET dysfunction may impair NE reuptake in renal disease and hypertension.
- A G1287A nucleotide substitution in the NET gene was investigated for its role in hypertension.
Purpose of the Study:
- To investigate the association between the NET G1287A gene polymorphism and type 2 diabetes.
- To determine if this polymorphism influences hypertension in type 2 diabetes patients.
Main Methods:
- Genotyping for NET G1287A polymorphism using PCR-RFLP in 310 type 2 diabetes patients and 360 healthy controls.
- Comparison of genotype and allele frequencies between groups.
- Measurement of NE levels using high-performance liquid chromatography and electrochemical detection.
Main Results:
- No significant differences in NET G1287A genotype or allele frequencies were observed between diabetic patients and controls.
- Frequencies were similar in diabetic patients with and without nephropathy.
- A significant increase in the AA genotype frequency was found in hypertensive diabetic patients compared to normotensive diabetic patients (19% vs. 10%, p < 0.05).
Conclusions:
- The NET G1287A polymorphism is not associated with type 2 diabetes.
- This NET gene polymorphism may play a role in the susceptibility to hypertension among individuals with type 2 diabetes.
Related Concept Videos
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
01:16Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
01:26Type 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...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
01:24Type 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.
01:26Adrenergic Receptors: β Subtype
β-adrenoceptors have varied sensitivities towards adrenaline, noradrenaline, and isoprenaline. The order of agonist potency is as follows:
Isoprenaline > Adrenaline > Noradrenaline
Neurotransmitter binding to these receptors causes activation of adenylyl cyclase resulting in increased concentrations of cAMP and modulation of calcium ion channels within the cell. They are further classified into β1, β2, and β3 subtypes.
β1-adrenoceptors: β1-adrenoceptors have equal affinities for...
Isoprenaline > Adrenaline > Noradrenaline
Neurotransmitter binding to these receptors causes activation of adenylyl cyclase resulting in increased concentrations of cAMP and modulation of calcium ion channels within the cell. They are further classified into β1, β2, and β3 subtypes.
β1-adrenoceptors: β1-adrenoceptors have equal affinities for...