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Related Experiment Videos

Sequence variants in the FcepsilonRI alpha chain gene.

Toshiki Shikanai1, Eric S Silverman, Brian W Morse

  • 1Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.

Journal of Applied Physiology (Bethesda, Md. : 1985)
|June 19, 2002
PubMed
Summary

Genetic variants in the high-affinity IgE receptor (FcepsilonRI) alpha chain gene were investigated. Homozygosity for a specific promoter variant (C allele at -335) is linked to lower immunoglobulin E (IgE) levels in asthmatic patients.

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Area of Science:

  • Immunogenetics
  • Molecular biology
  • Allergy research

Background:

  • Immunoglobulin E (IgE) levels are linked to the expression of high-affinity IgE receptors (FcepsilonRI).
  • The alpha chain of FcepsilonRI is crucial for IgE binding, suggesting sequence variants could influence this interaction.

Purpose of the Study:

  • To identify sequence variants in the FcepsilonRI alpha chain gene.
  • To investigate the association of these variants with IgE levels and asthma.

Main Methods:

  • Screening of FcepsilonRI alpha gene exons and promoter region using single-stranded conformational polymorphism analysis.
  • Genomic DNA analysis from 389 asthmatic and 341 control subjects.
  • SNP genotyping and allele frequency analysis.

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Main Results:

  • No nonsynonymous SNPs were found in the coding region.
  • Three SNPs were identified in the promoter region (-770, -664, -335).
  • Homozygosity for the C allele at locus -335 was more prevalent in asthmatic patients with lower IgE levels (lower quartile) compared to those with higher IgE levels (upper quartile).
  • No significant differences in overall allele frequencies between asthmatic and control groups were observed.

Conclusions:

  • Specific FcepsilonRI alpha chain promoter variants do not appear to be major risk factors for asthma.
  • Homozygosity for the FcepsilonRI alpha chain C allele variant at -335 is associated with reduced IgE levels in Caucasian asthmatic patients.