Sortica Denise Alves, Buffon Marjorie Piucco, Souza Bianca Marmontel, Nicoletto Bruna Bellicanta, Santer Andressa, Assmann Tais Silveira, Crispim Daisy, Canani Luis Henrique
Endocrine Division, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Postgraduate Program in Medical Sciences: Endocrinology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Endocrine Division, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
PLoS One. 2015 Mar 20;10(3):e0118416. doi: 10.1371/journal.pone.0118416. eCollection 2015.
The potential association between the K121Q (A/C, rs1044498) polymorphism in the ectonucleotide pyrophosphatase/phosphodiesterase (ENPP1) gene and risk of diabetic kidney disease (DKD) has been investigated. Nevertheless, the effect of this variant on DKD risk is still under debate, and conflicting results have been reported. To this date, no meta-analysis has evaluated the association of the K121Q polymorphism with DKD. This paper describes the first meta-analysis conducted to evaluate whether the ENPP1K121Q polymorphism is associated with DKD. A literature search was conducted to identify all case-control or cross-sectional studies that evaluated associations between the ENPP1K121Q polymorphism and DKD. Pooled odds ratios (OR) and 95% confidence intervals (95% CI) were calculated for allele contrast, additive, dominant and recessive inheritance models. Seven studies were eligible for inclusion in the meta-analysis, providing data on 3571 type 1 or type 2 diabetic patients (1606 cases with DKD and 1965 diabetic controls without this complication). No significant heterogeneity was observed among the studies included in the meta-analysis when assuming different inheritance models (I² < 50% or P > 0.10 for the entire sample and after stratification by ethnicity). Meta-analysis results revealed significant associations between the K121Q polymorphism and risk of DKD in Asians and Europeans when assuming the different inheritance models analyzed. The most powerful association was observed for the additive model (OR = 1.74, 95% CI 1.27-2.38 for the total sample). In conclusion, the present meta-analysis detected a significant association between the ENPP1K121Q polymorphism and increased susceptibility of DKD in European and Asian populations.
外核苷酸焦磷酸酶/磷酸二酯酶（ENPP1）基因K121Q（A/C，rs1044498）多态性与糖尿病肾病（DKD）风险之间的潜在关联已得到研究。然而，该变体对DKD风险的影响仍存在争议，且已有相互矛盾的结果报道。迄今为止，尚无荟萃分析评估K121Q多态性与DKD的关联。本文描述了首个旨在评估ENPP1 K121Q多态性是否与DKD相关的荟萃分析。通过文献检索来识别所有评估ENPP1 K121Q多态性与DKD之间关联的病例对照研究或横断面研究。针对等位基因对比、加性、显性和隐性遗传模型计算合并比值比（OR）和95%置信区间（95%CI）。七项研究符合纳入荟萃分析的条件，提供了3571例1型或2型糖尿病患者的数据（1606例DKD患者和1965例无此并发症的糖尿病对照）。在假设不同遗传模型时，纳入荟萃分析的研究之间未观察到显著异质性（整个样本以及按种族分层后I²<50%或P>0.10）。荟萃分析结果显示，在假设分析的不同遗传模型时，K121Q多态性与亚洲人和欧洲人DKD风险之间存在显著关联。在加性模型中观察到最强的关联（总样本的OR = 1.74，95%CI 1.27 - 2.38）。总之，本荟萃分析发现ENPP1 K121Q多态性与欧洲和亚洲人群中DKD易感性增加之间存在显著关联。
