Background: Two genetic loci, PKD1 and PKD2, have been identified as being responsible for ADPKD, and PKD1 is known to be associated with a poor prognosis. However, the presence of an intrafamilial study clinical diversity suggests that there are disease-modifying loci. Because the mechanism of the renal failure in ADPKD includes a cystic growth and tubulointerstitial atrophy and fibrosis, we studied the associations between 2 polymorphisms in the TGF-β1 gene, which are known to be associated with chronic tubulointerstitial inflammation, and ADPKD progression in Korean patients. Patients and methods: One hundred and twenty-five individuals who had ADPKD and 47 normal control subjects were genotyped by PCR-RFLP, the T869C (Leu10Pro) variant of TGF-β1 gene leader sequence was discriminated with MspAlI and the G915C (Arg25Pro) variants with BglI. Statistical significances were determined using the Chi-square test. Results: The distribution of the alleles for the TGFβ1 Leu10Pro polymorphism in ADPKD was: T 54%, C 46%, which was similar to the Korean (56 : 44, p = 0.887) and Western controls (65 : 35). In addition, no differences were found between the ESRD and the non-ESRD groups (p = 0.888) or the early hypertension and the normotension groups (p = 0.249). The distribution of alleles for the TGFβ1 Arg25Pro polymorphism showed only the GG type which was different from the Western population controls (G : C = 90 : 10, p = 0.000). Conclusions: Our results suggest that the polymorphism at Arg25Pro of TGFβ1 in the Korean population has an allele distribution different from that of the Western population and that the polymorphism at Leu10Pro of TGF-β1 has no association with the renal progression in Korean ADPKD patients.
- Autosomal dominant polycystic kidney disease (ADPKD)
- Korean study
- TGF-β gene