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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,...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

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...
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%...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

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...
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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...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

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Genetic polymorphisms in chronic hyperplastic sinusitis with nasal polyposis.

Joel M Bernstein1, Jack B Anon, Michael Rontal

  • 1Department of Otolaryngology, School of Medicine and Biomedical Sciences, University at Buffalo, State University of New York, Buffalo, New York, USA. jbernste@buffalo.edu

The Laryngoscope
|May 1, 2009
PubMed
Summary
This summary is machine-generated.

Genetic variations in tumor necrosis factor (TNF)-alpha are linked to an increased risk of developing nasal polyposis. This finding may help understand the genetic susceptibility to chronic hyperplastic sinusitis with nasal polyposis (CHSwNP).

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Area of Science:

  • Immunogenetics
  • Rhinology
  • Molecular Biology

Background:

  • Chronic hyperplastic sinusitis with nasal polyposis (CHSwNP) involves inflammation, but the initial trigger remains unknown.
  • Proinflammatory cytokines are present in nasal polyp tissue, suggesting a role in pathogenesis.
  • Genetic factors may contribute to susceptibility to CHSwNP.

Purpose of the Study:

  • To investigate the association between genetic polymorphisms in cytokine, anti-inflammatory, and chemokine genes and CHSwNP.
  • To identify potential genetic markers for susceptibility to nasal polyposis.

Main Methods:

  • A case-control study was conducted with 179 patients with CHSwNP and 153 non-polyposis controls.
  • DNA was extracted from buccal swabs using the Purgene DNA purification protocol.
  • Genotyping of 14 cytokine gene loci was performed using Mass Array technology, with statistical analysis via unconditional logistic regression.

Main Results:

  • A statistically significant difference in the frequency of the A allele in a single-nucleotide polymorphism (SNP) in the tumor necrosis factor (TNF)-alpha gene (rs1800629) was observed between CHSwNP patients and controls.
  • Carrying at least one copy of the A allele at this TNF-alpha SNP was associated with an almost two-fold increased odds of developing nasal polyposis (OR, 1.86; 95% CI, 1.4-3.09).
  • No other statistically significant differences in cytokine gene polymorphisms were found between the groups.

Conclusions:

  • A specific SNP in the promoter region of the TNF-alpha gene (TNF-alpha-308) is associated with an increased risk of developing nasal polyposis.
  • TNF-alpha, a potent pro-inflammatory cytokine, plays a significant role in the pathogenesis of CHSwNP.
  • The genetic locus of TNF-alpha on chromosome 6, within the major histocompatibility complex, suggests a potential broader genetic association with immune-related diseases.