C allele in transforming growth factor-β1 rs1800471 gene polymorphisms might indicate a protective feature in encapsulating peritoneal sclerosis development

Ther Apher Dial. 2023 Apr;27(2):353-360. doi: 10.1111/1744-9987.13913. Epub 2022 Aug 24.

Abstract

Introduction: Peritoneal fibrosis may progress in peritoneal dialysis (PD) patients to a fatal clinical condition called encapsulating peritoneal sclerosis (EPS). Transforming growth factor (TGF)-β plays a pivotal role in the pathogenesis of peritoneal fibrosis. We aimed to investigate the association among polymorphisms in the gene encoding TGF-β1, which were -509C/T (rs1800469), +869T/C (rs1982073), and +915G/C (rs1800471) in EPS patients.

Methods: A total of 16 PD patients who were clinically and radiologically diagnosed with EPS were enrolled and 22 age- and gender-matched PD patients were selected as the non-EPS group.

Results: G allele frequency at the rs1800471 gene polymorphism was significantly higher in the EPS group than non-EPS group (p = 0.005). Interestingly, the non-EPS group patients had CC or CG polymorphisms.

Conclusion: C allele in TGF-β1 rs1800471 gene polymorphisms might indicate a protective feature in EPS development. Knowing the presence of polymorphism may be effective in selecting renal replacement therapy in patients.

Keywords: TGF-β1; encapsulating peritoneal sclerosis; gene polymorphism; peritoneal dialysis; rs1800471.

MeSH terms

  • Alleles
  • Genotype
  • Humans
  • Peritoneal Fibrosis* / genetics
  • Polymorphism, Genetic
  • Transforming Growth Factor beta1 / genetics
  • Transforming Growth Factor beta1 / metabolism

Substances

  • Transforming Growth Factor beta1
  • TGFB1 protein, human