Tziastoudi Maria, Stefanidis Ioannis, Hadjigeorgiou Georgios M, Stravodimos Konstantinos, Zintzaras Elias
Department of Biomathematics, School of Medicine, University of Thessaly, Larissa, Greece.
Department of Nephrology, School of Medicine, University of Thessaly, Larissa, Greece.
Clin Kidney J. 2017 Jun;10(3):293-300. doi: 10.1093/ckj/sfx008. Epub 2017 Apr 6.
Despite the certain contribution of metabolic and haemodynamic factors in diabetic nephropathy (DN), many lines of evidence highlight the role of immunologic and inflammatory mechanisms. To elucidate the contribution of the immune system in the development of DN, we explored the contribution of gene variants (polymorphisms) in relevant pathophysiologic pathways. We selected six major pathways related to immune response from the Kyoto Encyclopaedia of Genes and Genomes database and thereafter we traced all available genetic association studies (GASs) involving gene variants in these pathways from PubMed and HuGE Navigator. Finally, we used meta-analytic methods for synthesizing the results of the GASs. One hundred three GASs were retrieved that included 443 variants from 75 genes. Of those variants, 138 were meta-analysed and 61 produced significant results; seven variants were investigated in single GASs and showed significant association. Variants in , and genes were associated with an increased risk of DN. There is evidence that variants related with immunologic response affect the course of DN. However, the present results should be interpreted with caution since the current number of available GASs is limited.
尽管代谢和血流动力学因素在糖尿病肾病（DN）中具有一定作用，但许多证据都突出了免疫和炎症机制的作用。为了阐明免疫系统在DN发生发展中的作用，我们探讨了相关病理生理途径中基因变异（多态性）的作用。我们从京都基因与基因组百科全书数据库中选择了与免疫反应相关的六条主要途径，随后我们从PubMed和HuGE Navigator中追踪了所有涉及这些途径中基因变异的现有基因关联研究（GASs）。最后，我们使用荟萃分析方法来综合GASs的结果。共检索到103项GASs，其中包括来自75个基因的443个变异。在这些变异中，对138个进行了荟萃分析，61个产生了显著结果；7个变异在单个GASs中进行了研究并显示出显著关联。 、 和 基因中的变异与DN风险增加相关。有证据表明与免疫反应相关的变异会影响DN的病程。然而，由于目前可用的GASs数量有限，对当前结果的解释应谨慎。
