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Related Concept Videos

Sleep Apnea01:21

Sleep Apnea

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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...
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Genome-wide Association Studies-GWAS01:11

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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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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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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.
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Related Experiment Video

Updated: Sep 5, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Genome Sequencing Identifies Multiple Rare Variants in Caveolin-1 Associated with Obstructive Sleep Apnea.

Jingjing Liang1, Heming Wang2,3,4, Brian E Cade2,3,4

  • 1Department of Population and Quantitative Health Sciences, School of Medicine, Case Western Reserve University, Cleveland, Ohio.

American Journal of Respiratory and Critical Care Medicine
|July 13, 2022
PubMed
Summary
This summary is machine-generated.

Genetic factors influence obstructive sleep apnea (OSA) severity. Rare variants in the CAV1 gene are linked to reduced OSA severity and increased CAV1 expression, suggesting a new therapeutic target.

Keywords:
apnea–hypopnea indexcaveolin-1genetic association analysisobstructive sleep apnearare variants

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Area of Science:

  • Genetics
  • Sleep Medicine
  • Cardiovascular Disease

Background:

  • Obstructive sleep apnea (OSA) is a prevalent condition linked to significant health risks, including cardiovascular disease and diabetes.
  • Genetic factors are known to influence OSA, but specific genes remain largely unidentified.
  • Understanding the genetic basis of OSA is crucial for developing targeted interventions.

Purpose of the Study:

  • To identify rare genetic variants contributing to the severity of obstructive sleep apnea (OSA).
  • To investigate the role of specific genes in OSA pathogenesis using large-scale genomic data.
  • To explore the association between genetic variations and OSA-related phenotypes.

Main Methods:

  • Utilized high-depth genomic sequencing data from the NHLBI TOPMed program and imputed genotype data.
  • Performed linkage analysis in the Cleveland Family Study (CFS) followed by gene-based association analyses in independent cohorts.
  • Analyzed apnea-hypopnea index (AHI) in 7,708 individuals of European ancestry.

Main Results:

  • Identified a suggestive linkage peak on chromosome 7q31 in the CFS cohort.
  • Discovered 21 rare noncoding variants in the CAV1 gene associated with lower AHI (P = 7.4 × 10⁻⁸).
  • Found that these variants correlate with increased CAV1 expression, which in turn is linked to lower AHI and improved oxygen saturation.

Conclusions:

  • Rare variants in the CAV1 gene are associated with reduced OSA severity.
  • Increased CAV1 gene expression, influenced by these variants, may play a protective role in OSA.
  • CAV1 presents a potential novel target for therapeutic strategies aimed at mitigating OSA severity.