title: Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma.
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.
authors.affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.
authors.forename: Youming
authors.initials: Y
authors.lastname: Zhang
authors.forename: Nicholas I
authors.initials: NI
authors.lastname: Leaves
authors.forename: Gavin G
authors.initials: GG
authors.lastname: Anderson
authors.forename: Chris P
authors.initials: CP
authors.lastname: Ponting
authors.forename: John
authors.initials: J
authors.lastname: Broxholme
authors.forename: Richard
authors.initials: R
authors.lastname: Holt
authors.forename: Pauline
authors.initials: P
authors.lastname: Edser
authors.forename: Sumit
authors.initials: S
authors.lastname: Bhattacharyya
authors.forename: Andy
authors.initials: A
authors.lastname: Dunham
authors.forename: Ian M
authors.initials: IM
authors.lastname: Adcock
authors.forename: Louise
authors.initials: L
authors.lastname: Pulleyn
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Barnes
authors.forename: John I
authors.initials: JI
authors.lastname: Harper
authors.forename: Gonçalo
authors.initials: G
authors.lastname: Abecasis
authors.forename: Lon
authors.initials: L
authors.lastname: Cardon
authors.forename: Melanie
authors.initials: M
authors.lastname: White
authors.forename: John
authors.initials: J
authors.lastname: Burton
authors.forename: Lucy
authors.initials: L
authors.lastname: Matthews
authors.forename: Richard
authors.initials: R
authors.lastname: Mott
authors.forename: Mark
authors.initials: M
authors.lastname: Ross
authors.forename: Roger
authors.initials: R
authors.lastname: Cox
authors.forename: Miriam F
authors.initials: MF
authors.lastname: Moffatt
authors.forename: William O C M
authors.initials: WO
authors.lastname: Cookson
mesh_terms: D000328:Adult; D000483:Alleles; D017398:Alternative Splicing; D001249:Asthma / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood*; D008297:Male; D008969:Molecular Sequence Data; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D014018:Tissue Distribution; D016335:Zinc Fingers / Q000235:genetics
chemical_list: D007073:Immunoglobulin E