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Related Concept Videos

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,...
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...
Asthma-II: Pathophysiology and Classification01:26

Asthma-II: Pathophysiology and Classification

Asthma is a prevalent chronic respiratory condition marked by inflammation and hyperresponsiveness of the airways. Its pathophysiology involves complex interactions among inflammatory pathways, immune responses, and neural mechanisms.
Additionally, environmental and genetic factors play crucial roles in determining an individual's susceptibility to asthma and the severity of their condition.
Critical processes in asthma pathophysiology include:
Asthma I: Introduction01:28

Asthma I: Introduction

Asthma is a chronic inflammatory disorder of the airways characterized by variable airflow obstruction and heightened bronchial responsiveness to a wide range of triggers. The underlying inflammation leads to airway swelling, mucus hypersecretion, and smooth muscle constriction, all of which narrow the airway lumen and impede airflow. Clinically, asthma presents with recurrent episodes of wheezing, shortness of breath, chest tightness, and coughing, symptoms that typically vary in intensity and...
Asthma: Pathogenesis and Management01:20

Asthma: Pathogenesis and Management

Asthma is a chronic pulmonary condition involving inflammation of the airways, hyper-reactivity, and reversible obstruction of the airways. This condition can significantly impact a person's quality of life, making breathing difficult and leading to distressing symptoms.
Asthma is classified as allergic and non-allergic. Allergens such as dust mites, pollen, and pet dander trigger allergic asthma, while factors like cold air, intense emotions, or exercise can induce non-allergic asthma.
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

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Related Experiment Video

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Network analysis of single nucleotide polymorphisms in asthma.

Jutta Renkonen1, Sakari Joenväärä, Ville Parviainen

  • 1Transplantation Laboratory and Infection Biology Research Program, Haartman Institute, University of Helsinki, Helsinki;

Journal of Asthma and Allergy
|March 26, 2011
PubMed
Summary

This study analyzed genetic variations called single nucleotide polymorphisms (SNPs) associated with asthma. The findings highlight protein interactions, particularly involving toll-like receptors and chemokines, in asthma pathogenesis.

Keywords:
asthmanetworkpathway pathogenesissingle nucleotide polymorphisms

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Area of Science:

  • Genetics
  • Immunology
  • Bioinformatics

Background:

  • Asthma is a complex, chronic airway inflammatory disease with a significant genetic component.
  • Single nucleotide polymorphisms (SNPs) are implicated in asthma susceptibility.
  • A meta-analysis was conducted to explore SNPs associated with asthma.

Purpose of the Study:

  • To identify genes with SNPs related to asthma.
  • To construct and analyze a protein-protein interaction network for asthma-associated genes.
  • To uncover potential pathogenetic mechanisms of asthma through systems-level analysis.

Main Methods:

  • Literature search (PubMed) for asthma-related SNPs and genes.
  • Conversion of SNP-associated genes to proteins.
  • Construction of a protein-protein interaction network using multiple databases.
  • Analysis of the network using Gene Ontology and pathway databases.

Main Results:

  • Identified 127 asthma-related genes with SNPs.
  • Generated a protein-protein interaction network of 309 proteins and 644 connections.
  • Network significantly enriched in "protein binding" categories, including receptor and cytokine binding.
  • Detailed analysis revealed interactions within chemokine and toll-like receptor (TLR) networks.

Conclusions:

  • Protein binding, TLRs, and chemokines are central to the asthma-related protein interaction network.
  • Nonsynonymous SNPs in key genes like TLRs (e.g., TLR1, TLR4) are of significant interest.
  • Systems-level analysis of genetic variations offers new insights into asthma pathogenetic mechanisms.