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

被引：233

作者：

Zhang, YM

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

Cookson, WOCM

机构：

[1] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

[2] Univ Oxford, MRC, Funct Genet Unit, Dept Human Anat & Genet, Oxford OX1 2JD, England

[3] Wellcome Trust Sanger Inst, Cambridge, England

[4] Natl Heart & Lung Inst, Dept Thorac Med, London, England

[5] Great Ormond St Hosp Sick Children, London, England

[6] Inst Child Hlth, London, England

来源：

NATURE GENETICS | 2003年 / 34卷 / 02期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/ng1166

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Atopic or immunoglobulin E (IgE)-mediated diseases include the common disorders of asthma, atopic dermatitis and allergic rhinitis(1). Chromosome 13q14 shows consistent linkage to atopy and the total serum IgE concentration(2-6). 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.

引用

页码：181 / 186

页数：6

共 33 条

[1] THE PHD FINGER - IMPLICATIONS FOR CHROMATIN-MEDIATED TRANSCRIPTIONAL REGULATION [J].