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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.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Zhang Y,Leaves NI,Anderson GG,Ponting CP,Broxholme J,Holt R,Edser P,Bhattacharyya S,Dunham A,Adcock IM,Pulleyn L,Barnes PJ,Harper JI,Abecasis G,Cardon L,White M,Burton J,Matthews L,Mott R,Ross M,Cox R,Moffatt MF

doi

10.1038/ng1166

keywords:

subject

Has Abstract

pub_date

2003-06-01 00:00:00

pages

181-6

issue

2

eissn

1061-4036

issn

1546-1718

pii

ng1166

journal_volume

34

pub_type

杂志文章

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