PMID- 12754510 OWN - NLM STAT- MEDLINE DCOM- 20030703 LR - 20061115 IS - 1061-4036 (Print) IS - 1061-4036 (Linking) VI - 34 IP - 2 DP - 2003 Jun TI - Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma. PG - 181-6 AB - 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. FAU - Zhang, Youming AU - Zhang Y AD - Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK. FAU - Leaves, Nicholas I AU - Leaves NI FAU - Anderson, Gavin G AU - Anderson GG FAU - Ponting, Chris P AU - Ponting CP FAU - Broxholme, John AU - Broxholme J FAU - Holt, Richard AU - Holt R FAU - Edser, Pauline AU - Edser P FAU - Bhattacharyya, Sumit AU - Bhattacharyya S FAU - Dunham, Andy AU - Dunham A FAU - Adcock, Ian M AU - Adcock IM FAU - Pulleyn, Louise AU - Pulleyn L FAU - Barnes, Peter J AU - Barnes PJ FAU - Harper, John I AU - Harper JI FAU - Abecasis, Goncalo AU - Abecasis G FAU - Cardon, Lon AU - Cardon L FAU - White, Melanie AU - White M FAU - Burton, John AU - Burton J FAU - Matthews, Lucy AU - Matthews L FAU - Mott, Richard AU - Mott R FAU - Ross, Mark AU - Ross M FAU - Cox, Roger AU - Cox R FAU - Moffatt, Miriam F AU - Moffatt MF FAU - Cookson, William O C M AU - Cookson WO LA - eng SI - GENBANK/AF155105 SI - GENBANK/AL552215 SI - GENBANK/BE787177 SI - GENBANK/BF662927 SI - GENBANK/BG759124 SI - GENBANK/BI463029 PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Nat Genet JT - Nature genetics JID - 9216904 RN - 37341-29-0 (Immunoglobulin E) SB - IM MH - Adult MH - Alleles MH - Alternative Splicing MH - Asthma/*genetics MH - Case-Control Studies MH - Child MH - Chromosomes, Human, Pair 13/*genetics MH - Female MH - Haplotypes MH - Humans MH - Immunoglobulin E/*blood MH - Male MH - Molecular Sequence Data MH - Polymorphism, Single Nucleotide MH - *Quantitative Trait Loci MH - Tissue Distribution MH - Zinc Fingers/genetics EDAT- 2003/05/20 05:00 MHDA- 2003/07/04 05:00 CRDT- 2003/05/20 05:00 PHST- 2002/12/21 00:00 [received] PHST- 2003/04/18 00:00 [accepted] PHST- 2003/05/20 05:00 [pubmed] PHST- 2003/07/04 05:00 [medline] PHST- 2003/05/20 05:00 [entrez] AID - ng1166 [pii] AID - 10.1038/ng1166 [doi] PST - ppublish SO - Nat Genet. 2003 Jun;34(2):181-6. doi: 10.1038/ng1166.