Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma

Youming Zhang, Nicholas I Leaves, Gavin G Anderson, Chris P Ponting, John Broxholme, Richard Holt, Pauline Edser, Sumit Bhattacharyya, Andy Dunham, Ian M Adcock, Louise Pulleyn, Peter J Barnes, John I Harper, Gonçalo Abecasis, Lon Cardon, Melanie White, John Burton, Lucy Matthews, Richard Mott, Mark RossRoger Cox, Miriam F Moffatt, William O C M Cookson

Research output: Contribution to journalArticlepeer-review

Abstract

Atopic or immunoglobulin E (IgE)-mediated diseases include the common disorders of asthma, atopic dermatitis and allergic rhinitis. Chromosome 13q14 shows consistent linkage to atopy and the total serum IgE concentration. We previously identified association between total serum IgE levels and a novel 13q14 microsatellite (USAT24G1; ref. 7) and have now localized the underlying quantitative-trait locus (QTL) in a comprehensive single-nucleotide polymorphism (SNP) map. We found replicated association to IgE levels that was attributed to several alleles in a single gene, PHF11. We also found association with these variants to severe clinical asthma. The gene product (PHF11) contains two PHD zinc fingers and probably regulates transcription. Distinctive splice variants were expressed in immune tissues and cells.

Original languageEnglish
Pages (from-to)181-6
Number of pages6
JournalNature Genetics
Volume34
Issue number2
DOIs
Publication statusPublished - Jun 2003

Keywords

  • Adult
  • Alleles
  • Alternative Splicing
  • Asthma
  • Case-Control Studies
  • Child
  • Chromosomes, Human, Pair 13
  • Female
  • Haplotypes
  • Humans
  • Immunoglobulin E
  • Male
  • Molecular Sequence Data
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci
  • Tissue Distribution
  • Zinc Fingers

Fingerprint

Dive into the research topics of 'Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma'. Together they form a unique fingerprint.

Cite this