Qiu Ming-Yu, Xie Qin-Fang, Wang Li-Na, Yu Li
Department of Pediatrics, Nansha Central Hospital of Guangzhou City, Guangzhou 511457, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2015 Mar;17(3):232-6.
Angiotensin-converting enzyme 2 (ACE2) gene polymorphisms have been shown to be implicated in hypertension, diabetic nephropathy, and other diseases. However, it remains unclear whether ACE2 gene polymorphisms are involved in the development of primary nephrotic syndrome (PNS) in children. The aim of this study was to assess the association between A9570G polymorphisms of ACE2 gene and PNS in a group of Han children in Guangdong Province, China.
The genotype distribution and allele frequency of ACE2 gene A9570G in 66 children with PNS and 60 healthy subjects (control group) were analyzed by polymerase chain reaction and restriction fragment length polymorphism.
Allele frequency and genotype distribution showed no significant difference between the PNS and control groups whether in female or in male children (P>0.05). The PNS group was classified into the glucocorticoid-sensitive and glucocorticoid-resistant subgroups according to glucocorticoid treatment response. Subgroup analysis revealed that in female children, the frequency of GG genotype was 17% in the glucocorticoid-sensitive group vs 45% in the glucocorticoid-sensitive group (P=0.018); the frequency of G allele was 31% in the glucocorticoid-sensitive group vs 61% in the glucocorticoid-resistant group (P=0.023). In male children, the frequency of G genotype/G allele was 36% in the glucocorticoid-sensitive group vs 64% in the glucocorticoid-resistant group (P=0.017).
There is no clear association between ACE2 gene A9570G polymorphisms and childhood PNS, but ACE2 gene A9570G polymorphisms might be associated with glucocorticoid treatment response in children with PNS. The G allele might be a genetic susceptibility factor of glucocorticoid resistance in children with PNS.
血管紧张素转换酶2（ACE2）基因多态性已被证明与高血压、糖尿病肾病及其他疾病有关。然而，ACE2基因多态性是否参与儿童原发性肾病综合征（PNS）的发病尚不清楚。本研究旨在评估中国广东省汉族儿童中ACE2基因A9570G多态性与PNS之间的关联。
采用聚合酶链反应和限制性片段长度多态性分析66例PNS患儿及60例健康对照者（对照组）中ACE2基因A9570G的基因型分布及等位基因频率。
无论在男性还是女性儿童中，PNS组与对照组之间的等位基因频率和基因型分布均无显著差异（P>0.05）。根据糖皮质激素治疗反应将PNS组分为糖皮质激素敏感和糖皮质激素抵抗亚组。亚组分析显示，在女性儿童中，糖皮质激素敏感组GG基因型频率为17%，糖皮质激素抵抗组为45%（P=0.018）；糖皮质激素敏感组G等位基因频率为31%，糖皮质激素抵抗组为61%（P=0.023）。在男性儿童中，糖皮质激素敏感组G基因型/G等位基因频率为36%，糖皮质激素抵抗组为64%（P=0.017）。
ACE2基因A9570G多态性与儿童PNS之间无明显关联，但ACE2基因A9570G多态性可能与PNS患儿的糖皮质激素治疗反应有关。G等位基因可能是PNS患儿糖皮质激素抵抗的遗传易感因素。
