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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...
Pulmonary Function Tests01:25

Pulmonary Function Tests

Pulmonary Function Tests (PFTs)
Pulmonary Function Tests are crucial diagnostic tools for assessing respiratory function, particularly in patients with chronic respiratory disorders. They comprehensively evaluate lung volumes, ventilatory function, breathing mechanics, diffusion, and gas exchange. These tests help diagnose pulmonary diseases and play a significant role in monitoring disease progression, evaluating disability, and assessing response to therapy.
PFTs involve using a spirometer, a...
Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies01:27

Chronic Obstructive Pulmonary Disease-IV: Assessement and Diagnostic Studies

Assessing and diagnosing Chronic Obstructive Pulmonary Disease (COPD) involves a detailed approach that includes a comprehensive review of medical history, physical examination, and a variety of diagnostic tests. This thorough evaluation is essential to ensure an accurate diagnosis and guide effective management strategies.
Medical History
Lung Capacity01:47

Lung Capacity

The air in the lungs is measured in volumes and capacities. Lung volume measures reflect the amount of air taken in, released, or left over after a lung function, like a single inhalation. Lung capacity measures are sums of two or more lung volume measures.
COPD: Pathogenesis and Clinical Features01:20

COPD: Pathogenesis and Clinical Features

Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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Genome-wide association study identifies five loci associated with lung function.

Emmanouela Repapi1, Ian Sayers, Louise V Wain

  • 1Departments of Health Sciences and Genetics, Adrian Building, University of Leicester, Leicester, UK.

Nature Genetics
|December 17, 2009
PubMed
Summary
This summary is machine-generated.

This study identifies six genetic loci associated with pulmonary function, including forced expiratory volume in 1 second (FEV1) and FEV1/forced vital capacity (FVC) ratio. These findings offer insights into respiratory disease mechanisms and potential therapeutic targets.

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Area of Science:

  • Genetics
  • Pulmonology
  • Bioinformatics

Background:

  • Pulmonary function measures, such as FEV1 and FVC, are heritable and crucial for defining COPD.
  • Genetic factors significantly influence individual lung function and respiratory health outcomes.

Purpose of the Study:

  • To conduct a genome-wide association study (GWAS) to identify genetic variants associated with FEV1 and FEV1/FVC ratio.
  • To expand the understanding of genetic regulation of pulmonary function and its implications for respiratory diseases.

Main Methods:

  • Meta-analysis of GWAS data from the SpiroMeta consortium and additional cohorts (CHARGE, Health 2000).
  • Analysis included up to 53,121 individuals of European ancestry.
  • Confirmed known loci and identified novel associations using genome-wide and in silico data.

Main Results:

  • Confirmed the 4q31 locus and identified five new loci associated with FEV1 or FEV1/FVC: TNS1 (2q35), GSTCD (4q24), HTR4 (5q33), AGER (6p21), and THSD4 (15q23).
  • Significantly strong associations were observed for GSTCD, AGER, and THSD4.
  • mRNA expression analysis confirmed the presence of TNS1, GSTCD, AGER, HTR4, and THSD4 in human lung tissue.

Conclusions:

  • The identified genetic loci provide novel mechanistic insights into pulmonary function regulation.
  • These findings highlight potential novel molecular targets for therapeutic interventions in respiratory diseases like COPD.