Characterization of a common susceptibility locus for asthma-related traits

Science. 2004 Apr 9;304(5668):300-4. doi: 10.1126/science.1090010.

Abstract

Susceptibility to asthma depends on variation at an unknown number of genetic loci. To identify susceptibility genes on chromosome 7p, we adopted a hierarchical genotyping design, leading to the identification of a 133-kilobase risk-conferring segment containing two genes. One of these coded for an orphan G protein-coupled receptor named GPRA (G protein-coupled receptor for asthma susceptibility), which showed distinct distribution of protein isoforms between bronchial biopsies from healthy and asthmatic individuals. In three cohorts from Finland and Canada, single nucleotide polymorphism-tagged haplotypes associated with high serum immunoglobulin E or asthma. The murine ortholog of GPRA was up-regulated in a mouse model of ovalbumin-induced inflammation. Together, these data implicate GPRA in the pathogenesis of atopy and asthma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms
  • Alternative Splicing
  • Animals
  • Asthma / genetics*
  • Asthma / metabolism
  • Bronchi / chemistry
  • Bronchi / cytology
  • Chromosomes, Human, Pair 7 / genetics*
  • Epithelial Cells / chemistry
  • Female
  • Finland
  • Gene Expression
  • Genes
  • Genetic Linkage
  • Genetic Predisposition to Disease*
  • Genetic Variation
  • Genotype
  • Haplotypes*
  • Humans
  • Hypersensitivity / genetics
  • Hypersensitivity / metabolism
  • Immunoglobulin E / blood
  • Inflammation / genetics
  • Lung / metabolism
  • Male
  • Mice
  • Myocytes, Smooth Muscle / chemistry
  • Polymorphism, Single Nucleotide
  • Quebec
  • Receptors, G-Protein-Coupled / analysis
  • Receptors, G-Protein-Coupled / genetics*

Substances

  • NPSR1 protein, human
  • Receptors, G-Protein-Coupled
  • Immunoglobulin E