Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma

Nature. 2007 Jul 26;448(7152):470-3. doi: 10.1038/nature06014. Epub 2007 Jul 4.

Abstract

Asthma is caused by a combination of poorly understood genetic and environmental factors. We have systematically mapped the effects of single nucleotide polymorphisms (SNPs) on the presence of childhood onset asthma by genome-wide association. We characterized more than 317,000 SNPs in DNA from 994 patients with childhood onset asthma and 1,243 non-asthmatics, using family and case-referent panels. Here we show multiple markers on chromosome 17q21 to be strongly and reproducibly associated with childhood onset asthma in family and case-referent panels with a combined P value of P < 10(-12). In independent replication studies the 17q21 locus showed strong association with diagnosis of childhood asthma in 2,320 subjects from a cohort of German children (P = 0.0003) and in 3,301 subjects from the British 1958 Birth Cohort (P = 0.0005). We systematically evaluated the relationships between markers of the 17q21 locus and transcript levels of genes in Epstein-Barr virus (EBV)-transformed lymphoblastoid cell lines from children in the asthma family panel used in our association study. The SNPs associated with childhood asthma were consistently and strongly associated (P < 10(-22)) in cis with transcript levels of ORMDL3, a member of a gene family that encodes transmembrane proteins anchored in the endoplasmic reticulum. The results indicate that genetic variants regulating ORMDL3 expression are determinants of susceptibility to childhood asthma.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Asthma / epidemiology
  • Asthma / genetics*
  • Case-Control Studies
  • Child
  • Chromosomes, Human, Pair 17 / genetics
  • Gene Expression Regulation / genetics*
  • Genetic Predisposition to Disease*
  • Deutschland
  • Humans
  • Membrane Proteins / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Vereinigtes Königreich

Substances

  • Membrane Proteins
  • ORMDL3 protein, human
  • RNA, Messenger

Associated data

  • GEO/GSE8052