Dieter Cristine, Assmann Taís Silveira, Lemos Natália Emerim, Massignam Eloísa Toscan, Souza Bianca Marmontel de, Bauer Andrea Carla, Crispim Daisy
Hospital de Clínicas de Porto Alegre, Endocrine Division, Porto Alegre, RS, Brazil.
Universidade Federal do Rio Grande do Sul, Faculdade de Medicina, Programa de Pós-Graduação em Ciências Médicas: Endocrinologia, Porto Alegre, RS, Brazil.
Genet Mol Biol. 2020 Mar 27;43(2):e20180374. doi: 10.1590/1678-4685-GMB-2018-0374. eCollection 2020.
Uncoupling protein 2 (UCP2) decreases reactive oxygen species (ROS). ROS overproduction is a key contributor to the pathogenesis of diabetic kidney disease (DKD). Thus, UCP2 polymorphisms are candidate risk factors for DKD; however, their associations with this complication are still inconclusive. Here, we describe a case-control study and a meta-analysis conducted to investigate the association between UCP2 -866G/A and Ins/Del polymorphisms and DKD. The case-control study comprised 385 patients with type 1 diabetes mellitus (T1DM): 223 patients without DKD and 162 with DKD. UCP2 -866G/A (rs659366) and Ins/Del polymorphisms were genotyped by real-time PCR and conventional PCR, respectively. For the meta-analysis, a literature search was conducted to identify all studies that investigated associations between UCP2 polymorphisms and DKD in patients with T1DM or type 2 diabetes mellitus. Pooled odds ratios were calculated for different inheritance models. Allele and genotype frequencies of -866G/A and Ins/Del polymorphisms did not differ between T1DM case and control groups. Haplotype frequencies were also similar between groups. Four studies plus the present one were eligible for inclusion in the meta-analysis. In agreement with case-control data, the meta-analysis results showed that the -866G/A and Ins/Del polymorphisms were not associated with DKD. In conclusion, our case-control and meta-analysis studies did not indicate an association between the analyzed UCP2 polymorphisms and DKD.
解偶联蛋白2(UCP2)可降低活性氧(ROS)水平。ROS的过度产生是糖尿病肾病(DKD)发病机制的关键因素。因此,UCP2基因多态性是DKD的候选风险因素;然而,它们与这种并发症之间的关联仍无定论。在此,我们描述了一项病例对照研究和一项荟萃分析,旨在探讨UCP2 -866G/A和Ins/Del基因多态性与DKD之间的关联。病例对照研究纳入了385例1型糖尿病(T1DM)患者:223例无DKD患者和162例DKD患者。分别通过实时PCR和常规PCR对UCP2 -866G/A(rs659366)和Ins/Del基因多态性进行基因分型。对于荟萃分析,进行了文献检索,以确定所有研究T1DM或2型糖尿病患者中UCP2基因多态性与DKD之间关联的研究。计算了不同遗传模型的合并比值比。T1DM病例组和对照组之间-866G/A和Ins/Del基因多态性的等位基因和基因型频率没有差异。两组之间的单倍型频率也相似。四项研究加上本研究符合纳入荟萃分析的条件。与病例对照数据一致,荟萃分析结果表明-866G/A和Ins/Del基因多态性与DKD无关。总之,我们的病例对照研究和荟萃分析未表明所分析的UCP2基因多态性与DKD之间存在关联。