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STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families

机译：与高IgE综合征相关的STAT3单核苷酸多态性和STAT3突变与哮喘家族中血清IgE血清水平升高无关

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摘要

Mutations in STAT3 (signal transducer and activator of transcription 3) have recently been found to cause the hyper-IgE syndrome (HIES) – a rare immunodeficiency syndrome including complex somatic features. We now tested whether STAT3 mutations or single-nucleotide polymorphisms (SNPs) within STAT3 may be responsible for increased IgE levels in asthmatic children. We genotyped DNA samples from 918 individuals of 217 core families by MALDI-TOF mass spectrometry. SNPs were selected from previous reports, by functional relevance and haplotype-tagging capacity. In 24 assays, including the recently described HIES mutations, no variant was detected. In another 27 SNP assays, there was no association of any STAT3 variant with asthma, allergic rhinitis or eczema. In addition, neither total and specific IgE and eosinophil count nor any lung function parameter showed any significant association. When combining high eosinophil counts and high total IgE levels to an HIES-like trait, four SNPs in the 5′-UTR of STAT3 were slightly overtransmitted. A minor fraction of asthmatic children may possibly have an alternate STAT3 promoter architecture influencing joined IgE and eosinophil upregulation. While an overall effect of STAT3 mutations on serum IgE is unlikely in asthma children.
机译：最近发现STAT3中的突变（信号转导子和转录激活子3）会引起高IgE综合征（HIES）-一种罕见的免疫缺陷综合征，包括复杂的体细胞特征。现在，我们测试了STAT3内的STAT3突变或单核苷酸多态性（SNP）是否可能与哮喘儿童的IgE水平升高有关。我们通过MALDI-TOF质谱对217个核心家族的918个个体的DNA样本进行了基因分型。通过功能相关性和单倍型标记能力从以前的报告中选择SNP。在24个测定中，包括最近描述的HIES突变，未检测到任何变异。在另外27种SNP分析中，没有任何STAT3变异与哮喘，变应性鼻炎或湿疹相关。此外，总IgE和特异性IgE和嗜酸性粒细胞计数或任何肺功能参数均未显示任何显着相关性。当将高嗜酸性粒细胞计数和高总IgE水平组合成类似HIES的性状时，STAT3的5'-UTR中的四个SNP略微过量传递。少数哮喘儿童可能具有替代的STAT3启动子结构，影响IgE和嗜酸性粒细胞联合上调。尽管在哮喘儿童中，STAT3突变对血清IgE的总体影响不太可能。

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