The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis
The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis
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局灶节段性肾小球硬化症和类固醇抵抗性肾病综合征中 NPHS2（podocin）基因的 p.R229Q 变体：一项荟萃分析
DOI：
10.1007/s11255-014-0676-3
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发表时间：
2014-07-01
影响因子：
2
通讯作者：
Wei, Lian-Bo
中科院分区：
文献类型：
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作者：
Lu, Lu;Wan, Heng;Wei, Lian-Bo
虽然许多先前的研究已经报道了NPHS 2基因的p.R229Q变体与局灶节段性肾小球硬化症（FSGS）或类固醇耐药肾病综合征（SRNS）之间的关联，但尚未确定结论性关系。在这项研究中，我们对已发表的数据进行了荟萃分析，以调查P.R229Q多态性对FSGS和SRNS患者的影响。尽管在一些比较中存在显著异质性，但结果显示，与纯合子非变异个体相比，变异等位基因纯合子个体的SRNS风险显著更高（OR 7.411，95%置信区间1.876-29.436，p = 0.004）。然而，SRNS患者和激素敏感型肾病综合征患者之间p.R229Q变异体的携带率没有显著差异。在FSGS患者和对照组之间或FSGS患者和具有不同病理学分类的患者之间未观察到p.R229Q携带率的统计学显著差异。在早发性疾病（发病年龄< 18岁）的任何组中，患者和对照组之间的p.R229Q携带率均无显著差异。总之，我们的荟萃分析表明，对于成人发病的疾病（发病年龄> 18岁），纯合子变异可能是遗传性肾病综合征的潜在预测因子，目前不能将p.R229Q等位基因视为预测FSGS的风险因素。
While many previous studies have reported an association between the p.R229Q variant of the NPHS2 gene and focal segmental glomerulosclerosis (FSGS) or steroid-resistant nephrotic syndrome (SRNS), a conclusive relationship has not been defined. In this study, we performed a meta-analysis of the published data to investigate the impact of the p.R229Q polymorphism on FSGS and SRNS patients. Despite significant heterogeneity within some of the comparisons, the results revealed significantly higher risks of SRNS in individuals homozygous for the variant allele (OR 7.411, 95% confidence interval 1.876-29.436, p = 0.004) compared to homozygous non-variant individuals. However, the carrier rate of the p.R229Q variant was not significantly different between SRNS patients and steroid-sensitive nephrotic syndrome patients. No statistically significant differences in the p.R229Q carrier rate were observed between FSGS patients and controls or FSGS patients and patients with different pathology classifications. No notable differences in the p.R229Q carrier rate were found between patients and controls in any group with early-onset disease (onset age < 18). In conclusion, our meta-analysis suggests that for adult-onset disease (onset age > 18), the homozygous variant could be a potential predictor of hereditary nephrotic syndrome and that the p.R229Q allele cannot currently be considered a risk factor for predicting FSGS.