Related Experiment Video
Updated: Sep 14, 2025
05:53
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
10.2K
Causal analysis of obstructive sleep apneas and immune cell variation: A 2-sample Mendelian randomization study
Ming Ye1, Yuanyuan Wei2, Xinghua Tan3
1Department of Emergency Medicine, General Hospital of Central Theater Command, Wuhan, China.
Medicine
|July 23, 2025
Summary
This study explored the immune system
Area of Science:
- Immunology and Sleep Medicine
- Genetic Epidemiology
Background:
- The relationship between immune system function and obstructive sleep apnea syndrome (OSAS) is complex and debated.
- Inflammation's role in OSAS pathophysiology requires further elucidation.
Purpose of the Study:
- To investigate the causal relationship between immune cell characteristics and OSAS susceptibility using a genetic approach.
- To identify specific immune cell traits genetically linked to OSAS.
Main Methods:
- A 2-sample Mendelian randomization analysis was performed.
- Utilized publicly available genetic data for 731 immune cell traits and OSAS.
- Sensitivity analyses were conducted to ensure result validity.
Main Results:
- Significant genetic associations were found between OSAS and three immune cell traits.
- These include activated and secreting regulatory autophagic T cells.
- Absolute plasma blast/plasma cell count also showed a significant association.
Conclusions:
- Specific immune cell characteristics are genetically associated with OSAS susceptibility.
- Findings suggest a potential role for these immune cells in OSAS pathophysiology.
- Further clinical research is warranted to explore therapeutic targets.
Related Concept Videos
01:11Genome-wide Association Studies-GWAS
14.3K
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...
GWAS does not require the identification of the target gene involved in...
14.3K
01:05Single Nucleotide Polymorphisms-SNPs
15.9K
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,...
15.9K
01:13Randomized Experiments
7.2K
The randomization process involves assigning study participants randomly to experimental or control groups based on their probability of being equally assigned. Randomization is meant to eliminate selection bias and balance known and unknown confounding factors so that the control group is similar to the treatment group as much as possible. A computer program and a random number generator can be used to assign participants to groups in a way that minimizes bias.
Simple randomization
Simple...
Simple randomization
Simple...
7.2K
01:21Sleep Apnea
224
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...
224
01:09Epistasis Analysis
5.2K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
5.2K
01:29Bias in Epidemiological Studies
695
Biases can arise at various stages of research, from study design and data collection to analysis and interpretation. Recognizing and addressing these biases is essential to ensure the validity and reliability of epidemiological findings.Broadly speaking, biases in epidemiology fall into three main categories: selection bias, information bias, and confounding. A more detailed description of possible biases is:
695