水通道蛋白-1基因多态性与慢性腹膜透析儿童腹膜功能的相关性

Correlation between polymorphisms of the aquaporin-1 gene and peritoneal function in children on chronic peritoneal dialysis.

作者信息

Yao Jiani, Wang Chunyan, Fang Xiaoyan, Chen Jing, Zhang Zhiqing, Liu Jiaojiao, Liu Jialu, Dai Rufeng, Chen Xiaotian, Zhai Yihui, Xu Hong, Shen Qian

机构信息

Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.

Department of Pediatrics, Huashan Hospital, Fudan University, Shanghai, China.

出版信息

Pediatr Nephrol. 2025 Sep 25. doi: 10.1007/s00467-025-06959-z.

DOI:10.1007/s00467-025-06959-z

PMID:40999036

Abstract

BACKGROUND

Aquaporins (AQPs) are a class of proteins that transport water molecules across membranes, which can promote water transport in cells. We aimed to explore the correlation between different polymorphisms of AQP1 and peritoneal function in children on peritoneal dialysis (PD).

METHODS

Children who underwent PD at the Children's Hospital of Fudan University from January 1, 2014, to December 31, 2023, were included. The AQP1 genotypes of the four polymorphisms were rs2075574 (TT, CT, CC), rs1049305 (GG, CG, CC), rs10253374 (TT, CT, CC) and rs17159702 (TT, CT, CC).

RESULTS

A total of 187 children on chronic PD were included in the study. We found that the TT group with rs2075574 exhibited a lower baseline peritoneal equilibration test (PET) ultrafiltration level than the CC group (302 ± 129 vs. 408 ± 168 ml/m, P = 0.015). For rs1049305, the CC group had a higher pKT/V than both the GG (2.71 ± 1.25 vs. 2.27 ± 0.79, P = 0.04) and CG groups (2.71 ± 1.25 vs. 2.24 ± 0.88, P = 0.03). Additionally, at 12-month follow-up, the CC (410 ± 160 ml/m, P = 0.04) and CG (393 ± 174 ml/m, P = 0.04) groups of rs1049305 showed higher PET ultrafiltration than the GG group (239 ± 288 ml/m). No significant correlation was observed between the four genotypes and adverse events.

CONCLUSIONS

AQP1 rs2075574 and rs1049305 polymorphisms might be associated with ultrafiltration and urea transport in children with PD.

摘要

背景

水通道蛋白（AQPs）是一类可跨膜转运水分子的蛋白质，能够促进细胞内的水转运。我们旨在探讨水通道蛋白1（AQP1）不同多态性与儿童腹膜透析（PD）腹膜功能之间的相关性。

方法

纳入2014年1月1日至2023年12月31日在复旦大学附属儿科医院接受PD治疗的儿童。四种多态性的AQP1基因型分别为rs2075574（TT、CT、CC）、rs1049305（GG、CG、CC）、rs10253374（TT、CT、CC）和rs17159702（TT、CT、CC）。

结果

本研究共纳入187例慢性PD患儿。我们发现，rs2075574的TT组腹膜平衡试验（PET）超滤基线水平低于CC组（302±129 vs. 408±168 ml/m，P = 0.015）。对于rs1049305，CC组的pKT/V高于GG组（2.71±1.25 vs. 2.27±0.79，P = 0.04）和CG组（2.71±1.25 vs. 2.24±0.88，P = 0.03）。此外，在12个月随访时，rs1049305的CC组（410±160 ml/m，P = 0.04）和CG组（393±174 ml/m，P = 0.04）的PET超滤高于GG组（239±288 ml/m）。未观察到四种基因型与不良事件之间存在显著相关性。