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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,...
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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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Related Experiment Video

Updated: May 11, 2026

Immunofluorescent Labeling in Nasal Mucosa Tissue Sections of Allergic Rhinitis Rats via Multicolor Immunoassay
06:08

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Published on: September 22, 2023

CD8A gene polymorphisms predict severity factors in chronic rhinosinusitis.

Saud Alromaih1, Leandra Mfuna-Endam, Yohan Bosse

  • 1Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Montreal, Canada.

International Forum of Allergy & Rhinology
|May 4, 2013
PubMed
Summary

Genetic factors in chronic rhinosinusitis (CRS) were investigated. Specific gene variations in CD8A and TAPBP are linked to increased CRS risk and severity, suggesting a role in immune function.

Keywords:
CD8AMHC1 deficiencyMHC1 immunodeficiency syndromeTABP phenotypingchronic rhinosinusitisgenetic association study

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High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
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Published on: July 18, 2017

Area of Science:

  • Immunogenetics
  • Genetics of Sinonasal Diseases

Background:

  • Chronic rhinosinusitis (CRS) has a suspected genetic basis that remains unclear.
  • Low circulating CD8 lymphocytes are frequently observed in refractory CRS cases.
  • Mutations in genes related to major histocompatibility complex 1 (MHC1) deficiency, including CD8A, TAP1, TAP2, and TAPBP, are associated with severe CRS.

Purpose of the Study:

  • To investigate the presence of genetic factors associated with MHC1 deficiency in patients with CRS.
  • To determine if specific gene polymorphisms in CD8A, TAP1, TAP2, and TAPBP are linked to CRS.

Main Methods:

  • Screening of a genomewide association study dataset for polymorphisms in CD8A, TAP1, TAP2, and TAPBP genes.
  • Testing significant polymorphisms for associations with demographic factors in severe CRS patients.

Main Results:

  • Polymorphisms in CD8A (rs3810831) and TAPBP (rs2282851) showed significant association with CRS.
  • Major allele homozygosity for CD8A (rs3810831) correlated with increased family history, earlier diagnosis, and more surgeries.
  • TAPBP (rs2282851) polymorphism was linked to a 2.48-fold increased risk of CRS.

Conclusions:

  • Altered function of CD8A or TAPBP genes may contribute to refractory CRS through impaired MHC1 function and reduced CD8 lymphocytes.
  • Identifying markers in CD8A or TAPBP genes could provide a basis for genetic testing in CRS patients.