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首页> 外文期刊>Journal of genetics >Validation of PPP1R12B as a candidate gene for childhood asthma in Russians
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Validation of PPP1R12B as a candidate gene for childhood asthma in Russians

机译：PPP1R12B作为俄罗斯儿童哮喘的候选基因的验证

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摘要

Childhood asthma candidate gene PPP1R12B was identified in the first genomewide association study (GWAS) in Russians of west Siberia. Here, we report validation of this discovery in an independent cohort of Russians from the city of Kursk. Twenty-six single-nucleotide polymorphisms (SNP) in the gene were analysed, of which four were significantly associated with childhood asthma. Haplotypic structure of four markers was different in control and childhood asthma samples, implicating the importance of PPP1R12B haplo-types in predisposition to the disease. The haplotype comprising common alleles was protective against asthma, while other haplotypes were positively associated with the disease. We propose possible mechanisms of the association, including impact of the gene on airway hyperresponsiveness and C-C chemokine receptor 3 signalling pathway modulation.
机译：在第一个全基因组关联研究（GWAS）中，西西伯利亚的俄罗斯人发现了儿童哮喘候选基因PPP1R12B。在这里，我们报告了来自库尔斯克市的一个独立的俄罗斯人队列对这一发现的验证。分析了该基因中的26个单核苷酸多态性（SNP），其中有4个与儿童哮喘显着相关。在对照和儿童哮喘样本中，四种标记的单倍型结构不同，这暗示了PPP1R12B单倍型在该疾病易感性中的重要性。包含常见等位基因的单倍型对哮喘具有保护作用，而其他单倍型与疾病呈正相关。我们提出了可能的关联机制，包括该基因对气道高反应性和C-C趋化因子受体3信号通路调节的影响。

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