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

Journal article

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: Zhang, Y; Leaves, N; Anderson, G; Ponting, C; Broxholme, J

• Publication status: Published
• Journal: Nature genetics
• Volume: 34
• Issue: 2
• Pages: 181-186
• Publication date: 2003-06-01
• DOI: 10.1038/ng1166
• EISSN: 1546-1718
• ISSN: 1061-4036
• Language: English
• Keywords: Female; Alleles; Chromosomes, Human, Pair 13; Child; Tissue Distribution; Immunoglobulin E; Quantitative Trait Loci; Adult; Humans; Polymorphism, Single Nucleotide; Zinc Fingers; Molecular Sequence Data; Case-Control Studies; Male; Alternative Splicing; Asthma; Haplotypes