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Published on: July 19, 2018
Correlation between polymorphisms of the aquaporin-1 gene and peritoneal function in children on chronic peritoneal
Jiani Yao1,2, Chunyan Wang1, Xiaoyan Fang1
1Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.
Insights
Genetic variations in Aquaporin-1 (AQP1) influence peritoneal dialysis outcomes. Specific AQP1 polymorphisms, rs2075574 and rs1049305, correlate with altered ultrafiltration and urea transport in pediatric patients undergoing peritoneal dialysis (PD).
Area of Science:
- Nephrology
- Genetics
- Molecular Biology
Background:
- Aquaporins (AQPs) facilitate water transport across cell membranes.
- Aquaporin-1 (AQP1) plays a role in cellular water permeability.
- Understanding AQP1 genetic variations is crucial for optimizing treatments in kidney disease.
Purpose of the Study:
- To investigate the association between AQP1 gene polymorphisms and peritoneal function in children undergoing peritoneal dialysis (PD).
- To identify specific AQP1 genotypes that may predict treatment efficacy or complications in pediatric PD patients.
Main Methods:
- A cohort of 187 children on chronic PD was analyzed.
- Four AQP1 polymorphisms (rs2075574, rs1049305, rs10253374, rs17159702) were genotyped.
- Peritoneal equilibration test (PET) parameters, including ultrafiltration and urea transport (pKT/V), were assessed.
Main Results:
- The TT genotype for AQP1 rs2075574 was linked to lower baseline ultrafiltration compared to the CC genotype.
- The CC genotype for AQP1 rs1049305 showed higher pKT/V values.
- At 12-month follow-up, AQP1 rs1049305 CC and CG genotypes were associated with increased PET ultrafiltration compared to the GG genotype.
- No significant correlation was found between the studied AQP1 genotypes and adverse events.
Conclusions:
- AQP1 rs2075574 and rs1049305 polymorphisms are potentially associated with variations in ultrafiltration and urea transport efficiency in children on PD.
- These findings suggest a genetic basis for individual differences in PD outcomes.
- Further research is warranted to explore the clinical implications of these AQP1 variants in pediatric nephrology.
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/m2, 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/m2, P = 0.04) and CG (393 ± 174 ml/m2, P = 0.04) groups of rs1049305 showed higher PET ultrafiltration than the GG group (239 ± 288 ml/m2). 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.
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