Korean Journal of Nephrology 2002;21(1):39-46.

원저 : 한국인 ADPKD 환자에서의 TGF-β1 Gene Leader Sequence 유전자 다형성의 분포 및 임상경과와의 연관성 (Original articles : No Association of TGF-β1 Gene Polymorphism with the Progression of Autosomal Dominant Polycystic Kidney Disease ( ADPKD ) in Korean Patients)

오윤규(Yoon Kyu Oh),한진석(Jin Suk Han),이증건(Jung Geon Lee),안규리(Cu Rie Ahn),어현선(Hyun Seon Eo),노진주(Jin Ju No),김근화(Keun Hwa Kim),이은주(Eun Joo Lee),황영환(Yeong Hwan Hwang),황대연(Dae Yeon Hwang),이세한(Se Han Lee),이정은(Joung Eun Lee),김연

Abstract

Background
: Two genetic loci, PKD1 and PKD2, have been identified as being responsible for ADPKD, and PKD1 is known to be associated with poor prognosis. However, the presence of intrafamilial clinical diversity suggests the presence of disease-modifying loci. Because the mechanism of renal failure in ADPKD includes cystic growth and tubulointerstitial atrophy and fibrosis, we studied the associations between two cytokine gene polymorphisms in the TGF-β1 gene, which are known to be related with chronic tubulointerstitial inflammation, and ADPKD progression in Korean patients. Methods : 47 normal controls and 114 individuals with ADPKD were genotyped by PCR-RFLP, and the TGF-β1 gene leader sequence of T869C(Leu10Pro) variant was compared with MspA1I and G915C (Arg25Pro) with BglI. Statistic significances were determined using the Chi-square test. Results : The distribution of alleles for the TGF-β1 Leu10Pro polymorphism in ADPKD was : T 52%, C 48%, which was similar to the Korean(56 : 44, p= 0.670) and Western controls(65 : 35), and in addition, no differences were found between the CRF and the non-CRF groups(p=0.571) or the early hypertension and the normotension groups(p=0.252). The distribution of alleles for the TGF-β1 Arg25Pro polymorphism was all GG type, which was different from Western controls(90 : 10, p=0.000). Conclusion : Our results suggest that the polymorphism at Arg25Pro of TGF-β1 in Korean population has different allele distribution from Western, and the polymorphism at Leu10Pro of TGF-β1 has no association with the renal progression of Korean ADPKD patients. (Korean J Nephrol 2002;21(1): 39-46)