1.Association of the ACE gene polymorphism with the progression of autosomal dominant polycystic kidney disease.
Kyu Beck LEE ; Un Kyung KIM ; Chung Choo LEE
Journal of Korean Medical Science 2000;15(4):431-435
Renin-angiotensin system is considered important in the genesis of hypertension and development of end-stage renal disease (ESRD) in autosomal dominant polycystic kidney disease (ADPKD). The angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism has been associated with susceptibility to the development of some renal diseases. We investigated the association of ACE gene polymorphism with the progression to hypertension and ESRD in 108 patients with ADPKD. The ACE I/D polymorphism was amplified with the flanking primers by polymerase chain reaction. In patients genotyped for ACE gene polymorphism, the frequencies of DD (15+ACU-), ID (51+ACU-) and II (34+ACU-) genotypes were similar to those of the general population. Of the 108 patients, 64 (59+ACU-) developed hypertension and 24 (22+ACU-) reached ESRD at the time of study. The prevalence of hypertension was not significantly different among the three genotypes. The mean renal survival time was 53-6 yr in II genotype, 5510 yr in ID genotype and 529 yr in DD genotype which was not significantly different among them. Cumulative renal survival was not significantly different either. There was no association of ACE gene polymorphism with the prevalence of hypertension and renal survival in ADPKD. We suggest that ACE I/D polymorphism is not an important modifying gene in the progression of ADPKD.
Adult
;
Aged
;
Comparative Study
;
Disease Progression
;
Female
;
Genetic Predisposition to Disease
;
Genotype
;
Human
;
Hypertension, Renal/etiology
;
Hypertension, Renal/epidemiology
;
Kidney Failure, Chronic/etiology
;
Kidney Failure, Chronic/epidemiology
;
Korea/epidemiology
;
Male
;
Middle Age
;
Peptidyl-Dipeptidase A/genetics+ACo-
;
Polycystic Kidney, Autosomal Dominant/genetics+ACo-
;
Polycystic Kidney, Autosomal Dominant/epidemiology
;
Polycystic Kidney, Autosomal Dominant/enzymology
;
Polycystic Kidney, Autosomal Dominant/complications
;
Polymerase Chain Reaction
;
Polymorphism (Genetics)+ACo-
;
Prevalence
2.Association of the ACE gene polymorphism with the progression of autosomal dominant polycystic kidney disease.
Kyu Beck LEE ; Un Kyung KIM ; Chung Choo LEE
Journal of Korean Medical Science 2000;15(4):431-435
Renin-angiotensin system is considered important in the genesis of hypertension and development of end-stage renal disease (ESRD) in autosomal dominant polycystic kidney disease (ADPKD). The angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism has been associated with susceptibility to the development of some renal diseases. We investigated the association of ACE gene polymorphism with the progression to hypertension and ESRD in 108 patients with ADPKD. The ACE I/D polymorphism was amplified with the flanking primers by polymerase chain reaction. In patients genotyped for ACE gene polymorphism, the frequencies of DD (15+ACU-), ID (51+ACU-) and II (34+ACU-) genotypes were similar to those of the general population. Of the 108 patients, 64 (59+ACU-) developed hypertension and 24 (22+ACU-) reached ESRD at the time of study. The prevalence of hypertension was not significantly different among the three genotypes. The mean renal survival time was 53-6 yr in II genotype, 5510 yr in ID genotype and 529 yr in DD genotype which was not significantly different among them. Cumulative renal survival was not significantly different either. There was no association of ACE gene polymorphism with the prevalence of hypertension and renal survival in ADPKD. We suggest that ACE I/D polymorphism is not an important modifying gene in the progression of ADPKD.
Adult
;
Aged
;
Comparative Study
;
Disease Progression
;
Female
;
Genetic Predisposition to Disease
;
Genotype
;
Human
;
Hypertension, Renal/etiology
;
Hypertension, Renal/epidemiology
;
Kidney Failure, Chronic/etiology
;
Kidney Failure, Chronic/epidemiology
;
Korea/epidemiology
;
Male
;
Middle Age
;
Peptidyl-Dipeptidase A/genetics+ACo-
;
Polycystic Kidney, Autosomal Dominant/genetics+ACo-
;
Polycystic Kidney, Autosomal Dominant/epidemiology
;
Polycystic Kidney, Autosomal Dominant/enzymology
;
Polycystic Kidney, Autosomal Dominant/complications
;
Polymerase Chain Reaction
;
Polymorphism (Genetics)+ACo-
;
Prevalence
3.Angiotensinogen and Angiotensin II Type 1 Receptor Gene Polymorphism in Patients with Autosomal Dominant Polycystic Kidney Disease: Effect on Hypertension and ESRD.
Yonsei Medical Journal 2003;44(4):641-647
Autosomal dominant polycystic kidney disease (ADPKD), a common genetic disease, is characterized by the development of hypertension and end stage renal disease. An increase in the activity of the renin-angiotensin system, due to a renal ischemia caused by cyst expansion, contributes to the development of hypertension and renal failure in ADPKD. Recently, the angiotensinogen (AGT) gene, M235T, and angiotensin II type 1 receptor (ATR) gene, A1166C, polymorphisms have been associated with the susceptibility to develop hypertension and renal disease. We hypothesized that the AGT M235T and ATR A1166C polymorphisms could account for some of the variability in the progression of ADPKD. Genotyping was performed in 108 adult patients with ADPKD, and 105 normotensive healthy controls, using PCR and restriction digestion. We analyzed the effects of the AGT M235T and ATR A1166C polymorphisms on hypertension and age at the end stage renal disease (ESRD). Of the 108 patients with ADPKD, 64 (59%) had hypertension and 24 (22%) reached the ESRD. The prevalence of hypertension were; [MM+MT], [TT] genotypes, 60%, 59% (p=1.00) ; [AA], [AC+CC] genotypes, 60%, 50% respectively (p=0.54). The ages at the onset of ESRD were; [MM+MT], [TT] genotypes, 50 +/- 9 years, 56 +/- 8 years (p=0.07) ; [AA], [AC+CC] genotypes, 54 +/- 8 years, 52 +/- 14 years, respectively (p=0.07). There were no differences in the prevalence of hypertension and the ages at the ESRD in relation to the AGT M235T and ATR A1166C polymorphisms. We suggest that the AGT and ATR gene polymorphisms would not have an effect on hypertension or the ESRD in ADPKD.
Adult
;
Age of Onset
;
Angiotensinogen/*genetics
;
Disease Progression
;
Female
;
Human
;
Hypertension/epidemiology/etiology
;
Kidney Failure, Chronic/epidemiology/etiology
;
Male
;
Middle Aged
;
Polycystic Kidney, Autosomal Dominant/complications/*genetics/physiopathology
;
Polymorphism (Genetics)
;
Prevalence
;
Receptor, Angiotensin, Type 1
;
Receptors, Angiotensin/*genetics