Related Experiment Video
Updated: Mar 19, 2026
07:54
Drug-Induced Sleep Endoscopy DISE with Target Controlled Infusion TCI and Bispectral Analysis in Obstructive Sleep Apnea
Published on: December 6, 2016
20.8K
Caveolin-1 polymorphisms in patients with severe obstructive sleep apnea.
Selvi Asker1, Mehmet Taspinar2, Hasan Koyun3
1a Department of Chest Diseases , Yuzuncu Yil University School of Medicine , Van , Turkey.
Summary
This study explored Caveolin-1 gene variants and severe obstructive sleep apnea (OSA). The T29107A variant showed a significant association, suggesting a role in OSA development.
Area of Science:
- Genetics
- Sleep Medicine
- Molecular Biology
Background:
- Obstructive sleep apnea (OSA) is a prevalent sleep disorder with complex genetic underpinnings.
- Caveolin-1 (CAV1) plays a role in cellular signaling and vascular function, potentially relevant to OSA pathogenesis.
Purpose of the Study:
- To investigate the association between specific polymorphic variants of the Caveolin-1 gene (G14713A and T29107A) and the risk of developing severe obstructive sleep apnea (OSA).
Main Methods:
- A case-control study involving 86 patients with severe OSA and 86 healthy controls.
- Genotyping analysis was conducted to determine the allelic and genotypic frequencies of the G14713A and T29107A polymorphisms in the Caveolin-1 gene.
Main Results:
- A statistically significant difference in genotype distribution was observed for the T29107A polymorphism between severe OSA patients and controls.
- The TT genotype of the T29107A polymorphism was found at a higher frequency in the severe OSA patient group compared to the control group.
Conclusions:
- The T29107A genotype of the Caveolin-1 gene may be associated with the pathogenesis of severe obstructive sleep apnea.
- Further research is warranted to elucidate the precise role of this Caveolin-1 variant in OSA development.
Related Concept Videos
01:21Sleep Apnea
731
Sleep apnea is a condition where breathing stops intermittently during sleep, often leading to significant health issues. Each episode can last from 10 to 20 seconds or more and is frequently accompanied by a brief arousal from sleep. This disturbance, largely unnoticed by the individual, can lead to severe daytime fatigue. Commonly, individuals seek help after being informed by their partners about loud snoring and noticeable breathing pauses during sleep.
The condition is more prevalent among...
The condition is more prevalent among...
731
01:16Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
99
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...
99
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
65
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...
65
01:20Chronic Obstructive Pulmonary Disease-II: Pathophysiology
5.0K
Chronic Obstructive Pulmonary Disease (COPD) pathophysiology is intricate and multifaceted, involving a complex interplay of physiological processes. Understanding these mechanisms is crucial for effectively managing and treating COPD. Here is an in-depth look at the critical elements in the pathophysiology of COPD:
Chronic Inflammation
Chronic Inflammation
5.0K
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
98
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...
98
01:23Cystic Fibrosis: Pathogenesis
1.0K
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
1.0K