| Literature DB >> 12754510 |
Youming Zhang1, 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 Ross, Roger Cox, Miriam F Moffatt, William O C M Cookson.
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.Entities:
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Year: 2003 PMID： 12754510 DOI： 10.1038/ng1166
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330