Proinflammatory cytokine single nucleotide polymorphisms in nasal polyposis
Selim S Erbek1, Erkan Yurtcu, Seyra Erbek
1Department of Otolaryngology, Faculty of Medicine, Baskent University Konya Teaching and Research Center, Saray Caddesi No. 1, Selcuklu Konya, Ankara, Turkey. selimerbek@gmail.com
Archives of Otolaryngology--Head & Neck Surgery
|July 20, 2007
Summary
Certain gene variations in interleukin (IL) 1alpha, IL-1beta, and tumor necrosis factor alpha are linked to an increased risk of developing nasal polyposis (NP). These genetic factors may play a role in NP susceptibility.
Area of Science:
- Genetics
- Immunology
- Otorhinolaryngology
Background:
- Nasal polyposis (NP) is a chronic inflammatory condition of the upper airway.
- The role of proinflammatory cytokines in NP pathogenesis is not fully understood.
- Single nucleotide polymorphisms (SNPs) in cytokine genes may influence susceptibility to inflammatory diseases.
Purpose of the Study:
- To examine the association between specific SNPs in the IL1A, IL1B, and TNFA genes and the occurrence of NP.
- To determine if these genetic variations correlate with clinical characteristics of NP.
Main Methods:
- A prospective case-control study was conducted.
- Eighty-two patients with NP and 106 healthy controls were recruited.
- Genotyping for IL1A, IL1B, and TNFA SNPs was performed using polymerase chain reaction and restriction fragment length polymorphism analysis.
Main Results:
- Specific genotypes of IL1A (4845 GT, 4845 TT) were associated with NP.
- The IL1B -511 CC genotype was more frequent in NP patients, while the -511 CT genotype was more common in controls.
- TNFA genotypes -238 AA and -308 GA showed increased prevalence or risk in patients with NP.
- No significant associations were found between these genotypes and sex, atopy, asthma, or aspirin intolerance.
Conclusions:
- The study identified specific genotypes of IL1A, IL1B, and TNFA as potential genetic markers for NP susceptibility.
- These findings suggest a role for these proinflammatory cytokine gene polymorphisms in the development of nasal polyposis.
Related Concept Videos
01:05Single 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,...
01:25Inflammatory Bowel Disease III: Crohn's Disease
Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
01:11Pharmacogenetics 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...
01:29Pharmacogenetic 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...
02:26Comparing 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%...
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%...
01:20Inflammatory Bowel Disease II: Ulcerative Colitis
Ulcerative colitis is a chronic inflammatory disorder of the colon characterized by continuous mucosal inflammation that typically begins in the rectum and extends proximally in a uniform pattern. Its pathogenesis involves a complex interplay of genetic predisposition, immune dysregulation, and environmental influences. These factors converge to impair the colon’s epithelial defenses and promote an exaggerated inflammatory response against luminal contents.Breakdown of the Mucosal BarrierA...