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首页> 外文期刊>International journal of immunogenetics >Association study of Wegener granulomatosis and the functionally relevant A645G polymorphism in the bactericidal/permeability increasing protein (BPI) gene.
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Association study of Wegener granulomatosis and the functionally relevant A645G polymorphism in the bactericidal/permeability increasing protein (BPI) gene.

机译:Wegener肉芽肿病和杀菌/通透性增加蛋白(BPI)基因中功能相关的A645G多态性的关联研究。

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摘要

In antineutrophil cytoplasmatic antibody (ANCA)-associated vasculitides (AAV), bactericidal/permeability increasing protein (BPI) ANCAs are detected. Recent observations suggest that BPI-ANCAs can potentially contribute to a proinflammatory setting in the absence of proteinase 3 (PRTN3) ANCAs during the development of a pulmonary relapse by impeding the elimination of Gram-negative bacteria (GNB). However, it is as yet not clear whether the genetic background contributes to the generation of BPI-ANCAs in Wegener granulomatosis (WG) or if BPI polymorphisms are associated with WG. In this study we genotyped the functionally relevant single nucleotide polymorphism (SNP) A645 (Glu216Lys) of the BPI gene in 201 WG patients and 608 healthy controls. To investigate whether further SNPs might be associated with WG, we also examined an intragenic microsatellite marker. No significant differences were found between patients and controls. Thus BPI polymorphisms do not appear to contribute to genetic predisposition to WG. Moreover, our data do not suggest a genetic background for the generation of BPI-ANCAs in WG.
机译:在抗中性粒细胞胞质抗体(ANCA)相关的血管素(AAV)中,检测到增加杀菌/通透性的蛋白质(BPI)ANCA。最近的观察表明,BPI-ANCA可能通过阻止革兰氏阴性菌(GNB)的消除而在肺部疾病复发发展过程中不存在蛋白酶3(PRTN3)ANCA时促成促炎性环境。然而,尚不清楚遗传背景是否有助于韦格纳肉芽肿病(WG)中BPI-ANCA的产生,或者BPI多态性与WG相关。在这项研究中,我们对201 WG患者和608名健康对照者中BPI基因的功能相关单核苷酸多态性(SNP)A645(Glu216Lys)进行了基因分型。为了研究是否进一步的SNPs可能与WG相关,我们还检查了基因内微卫星标记。患者和对照组之间没有发现显着差异。因此,BPI多态性似乎没有促进WG的遗传易感性。此外,我们的数据并未提示在WG中产生BPI-ANCA的遗传背景。

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