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Endothelial nitric oxide synthase affects the progression of autosomal dominant polycystic kidney disease

Jana Reiterová1, Miroslav Merta, Vladimir Tesar

  • 1Department of Nephrology, Charles University, Prague, Czech Republic.

Kidney & Blood Pressure Research
|June 22, 2002
PubMed

Insights

The endothelial nitric oxide synthase (ecNOS) gene 'a' allele is more common in autosomal dominant polycystic kidney disease (ADPKD) patients with end-stage renal failure. This suggests the ecNOS 'a' allele may worsen ADPKD progression.

Area of Science:

  • Genetics
  • Nephrology
  • Molecular Biology

Background:

  • Autosomal dominant polycystic kidney disease (ADPKD) exhibits significant phenotypic variability not fully explained by PKD1/PKD2 mutations.
  • Endothelial dysfunction is a known complication in ADPKD patients.

Purpose of the Study:

  • To investigate the potential association between endothelial nitric oxide synthase (ecNOS) gene polymorphisms in intron 4 and the progression of ADPKD.
  • To determine if ecNOS gene variants influence disease severity and progression in ADPKD.

Main Methods:

  • Genomic DNA was analyzed from 155 Czech ADPKD patients and 100 healthy controls.
  • Polymerase chain reaction (PCR) was used for DNA amplification, followed by agarose gel electrophoresis.
  • Frequencies of ecNOS intron 4 alleles (ecNOSa and ecNOSb) were compared between ADPKD patients with end-stage renal failure (ESRF) and those with normal renal function.

Main Results:

  • The frequency of the ecNOS 'a' allele (in ecNOSa/b and ecNOSa/a genotypes) was significantly higher in ADPKD patients with ESRF compared to those with normal renal function (p < 0.05).
  • Specific allele frequencies were noted: ecNOSb/b (81%), ecNOSa/b (17%), ecNOSa/a (2%) in controls; ecNOSb/b (60%), ecNOSa/b (32%), ecNOSa/a (8%) in ESRF patients; ecNOSb/b (68.5%), ecNOSa/b (28.6%), ecNOSa/a (2.9%) in patients with normal renal function.

Conclusions:

  • The 'a' allele of the ecNOS gene polymorphism is significantly more prevalent in ADPKD patients who develop ESRF.
  • This finding suggests that the ecNOS 'a' allele may play a role in accelerating the progression of ADPKD towards kidney failure.
Abstract

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