Human SA gene Pst1 polymorphism and chronic renal failure: Results of the family-based study

Background. Because of the heterogeneous aetiology of kidney diseases, inte ractions between multiple genetic and environmental factors are thought to be involved in the process of progression to end-stage renal disease (ESRD) . Raised blood pressure remains a well-established, independent risk factor for a more rapid decline of renal function in various kidney diseases. The aim of the study was to investigate the role of the human SA gene Pst1 pol ymorphism in the development and:or progression of chronic renal failure (C RF). Methods. This polymorphism was genotyped in a group of 247 family trios (of fspring affected with end-stage renal disease, and both parents): 120 with primary chronic glomerulonephritis, 80 with interstitial nephritis, and 47 with diabetic nephropathy. Transmission/disequilibrium test (TDT) was used to evaluate allele transmission from heterozygous parents to affected offsp ring. Results. SA gene Pst1 allele transmission did not differ from random propor tion of 50:50, with no significant variation in the slope of reciprocal ser um creatinine over time between patients with SA Pst1 A1A1, A1A2, and A2A2. genotypes. In addition, no impact of this marker on the rate of progressio n of CRF in the course of diabetes mellitus, interstitial nephritis, and ch ronic glomerular nephritis was shown. Conclusion. Results of the study suggest no major role of SA gene polymorph ism in promoting renal damage. However, the limited numbers of patients hav ing both parents alive included in the analysis might have resulted in insu fficient power to detect a minor impact of this polymorphism, especially if such effect is confined to a certain aetiology of CRF.