Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma.
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.
Zhang
Youming
Y
Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.
Leaves
Nicholas I
NI
Anderson
Gavin G
GG
Ponting
Chris P
CP
Broxholme
John
J
Holt
Richard
R
Edser
Pauline
P
Bhattacharyya
Sumit
S
Dunham
Andy
A
Adcock
Ian M
IM
Pulleyn
Louise
L
Barnes
Peter J
PJ
Harper
John I
JI
Abecasis
Gonçalo
G
Cardon
Lon
L
White
Melanie
M
Burton
John
J
Matthews
Lucy
L
Mott
Richard
R
Ross
Mark
M
Cox
Roger
R
Moffatt
Miriam F
MF
Cookson
William O C M
WO
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
D007073:Immunoglobulin E