The Glu/Asp polymorphism of ecNOS gene and the renal progression in Korean autosomal dominant polycystic kidney disease (ADPKD) patients

Abstract

Two genetic loci, PKD1 and PKD2, have been identified as being responsible for ADPKD, but the presence of an intrafamilial clinical diversity suggests that there are disease-modifying loci. We studied the associations between polymorphism in the ecNOS gene, which are known to be associated with chronic tubulointerstitial and vascular changes, and ADPKD progression in Korean patients. A total of 112 individuals who had ADPKD and 41 normal control subjects were genotyped by PCR-RFLP, the Glu298Asp variant of ecNOS gene was discriminated with MboI. The distribution of the alleles for the ecNOS Glu298Asp polymorphism in ADPKD was: G 88%, T 12%, which was similar to the result of Korean population (95: 5, p = 0.128) but different from Western controls (65: 35, p = 0.000). No differences were found between the CRF and the non-CRF groups (p = 1.000) or the early hypertension and the normotension groups (p = 1.000). In conclusion, our results suggest that the polymorphism at Glu298Asp of ecNOS has no association with the renal progression in Korean ADPKD patients.