Sequence variants of the gene encoding chemoattractant receptor expressed on Th2 cells (CRTH2) are associated with asthma and differentially influence mRNA stability

Hum Mol Genet. 2004 Nov 1;13(21):2691-7. doi: 10.1093/hmg/ddh279. Epub 2004 Sep 2.

Abstract

The gene, CRTH2, encoding a receptor for prostaglandin D(2) (PGD(2)), is located within the peak linkage region for asthma on chromosome (Chr.) 11q reported in African American families. Family-based analysis of asthma and two common SNPs [G1544C and G1651A (rs545659)] in the 3'-untranslated region of CRTH2 showed significant evidence of linkage in the presence of disequilibrium for the 1651G allele (P = 0.003) of SNP rs545659. Haplotype analysis yielded additional evidence of linkage disequilibrium for the 1544G-1651G haplotype (P < 0.001). Population-based case-control analyses were conducted in two independent populations, and demonstrated significant association of the 1544G-1651G haplotype with asthma in an African American population (P = 0.004), and in a population of Chinese children (P < 0.001). Moreover, in the Chinese children the frequency of the 1651G allele in near-fatal asthmatics was significantly higher than mild-to-moderate asthmatics (P = 0.001) and normal controls (P < 0.001). The 1651G allele of SNP re545659 was also associated with a higher degree of bronchial hyperresponsiveness (P < 0.027). Transcriptional pulsing experiments showed that the 1544G-1651G haplotype confers a significantly higher level of reporter mRNA stability, when compared with a non-transmitted haplotype (1544C-1651A), suggesting that the CRTH2 gene on Chr. 11q is a strong candidate gene for asthma.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 3' Untranslated Regions
  • Alleles
  • Animals
  • Asian People
  • Asthma / ethnology
  • Asthma / genetics*
  • Black or African American / ethnology
  • Black or African American / genetics
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 11
  • Female
  • Genetic Linkage
  • Genetic Variation*
  • Genetics, Population
  • Haplotypes
  • Humans
  • Immunoglobulin E / blood
  • Linkage Disequilibrium
  • Male
  • Mice
  • NIH 3T3 Cells
  • Polymorphism, Single-Stranded Conformational
  • RNA, Messenger / metabolism*
  • Receptors, Immunologic / genetics*
  • Receptors, Prostaglandin / genetics*
  • Risk Factors
  • Sequence Analysis, DNA
  • Th2 Cells / metabolism*

Substances

  • 3' Untranslated Regions
  • RNA, Messenger
  • Receptors, Immunologic
  • Receptors, Prostaglandin
  • Immunoglobulin E
  • prostaglandin D2 receptor