Zhang Youming, Leaves Nicholas I, Anderson Gavin G, Ponting Chris P, Broxholme John, Holt Richard, Edser Pauline, Bhattacharyya Sumit, Dunham Andy, Adcock Ian M, Pulleyn Louise, Barnes Peter J, Harper John I, Abecasis Gonçalo, Cardon Lon, White Melanie, Burton John, Matthews Lucy, Mott Richard, Ross Mark, Cox Roger, Moffatt Miriam F, Cookson William O C M
Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.
Nat Genet. 2003 Jun;34(2):181-6. doi: 10.1038/ng1166.
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.
特应性或免疫球蛋白E（IgE）介导的疾病包括常见的哮喘、特应性皮炎和过敏性鼻炎。13号染色体q14区域显示出与特应性和总血清IgE浓度的一致连锁关系。我们之前已确定总血清IgE水平与一个新的13q14微卫星（USAT24G1；参考文献7）之间存在关联，现在已在一个全面的单核苷酸多态性（SNP）图谱中定位了潜在的数量性状基因座（QTL）。我们发现与IgE水平存在重复关联，这归因于单个基因PHF11中的几个等位基因。我们还发现这些变体与严重临床哮喘有关。该基因产物（PHF11）包含两个PHD锌指结构，可能参与调节转录。在免疫组织和细胞中表达了独特的剪接变体。
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