No association of the TGF-beta(1) gene polymorphisms with the renal progression in autosomal dominant polycystic kidney disease (ADPKD) patients
- Authors
- Lee, JG; Ahn, C; Yoon, SC; Park, JH; Eo, HS; No, JJ; Kim, KH; Lee, EJ; Hwang, YH; Hwang, DY; Kim, YS; Han, JS; Kim, S; Lee, JS; Kim, SH
- Issue Date
- Jan-2003
- Publisher
- DUSTRI-VERLAG DR KARL FEISTLE
- Keywords
- autosomal dominant; polycystic kidney disease (ADPKD); TGF-beta 1 gene; polymorphism; Korean study
- Citation
- CLINICAL NEPHROLOGY, v.59, no.1, pp 10 - 16
- Pages
- 7
- Journal Title
- CLINICAL NEPHROLOGY
- Volume
- 59
- Number
- 1
- Start Page
- 10
- End Page
- 16
- URI
- https://scholarworks.sookmyung.ac.kr/handle/2020.sw.sookmyung/16225
- DOI
- 10.5414/CNP59010
- ISSN
- 0301-0430
- Abstract
- 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-beta(1) 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-beta(1) gene leader sequence was discriminated with MspA1I and the G915C (Arg25Pro) variants with BglI. Statistical significances were determined using the Chi-square test. Results: The distribution of the alleles for the TGFbeta(1) 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 TGFbeta(1) 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 TGF-beta(1) in the Korean population has an allele distribution different from that of the Western population and that the polymorphism at Leu10Pro of TGF-beta(1) has no association with the renal progression in Korean ADPKD patients.
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