title: Human SA gene Pst1 polymorphism and chronic renal failure: results of the family-based study.
abstract: BACKGROUND
  Because of the heterogeneous aetiology of kidney diseases, interactions 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 polymorphism in the development and/or progression of chronic renal failure (CRF).
  
  
  METHODS
  This polymorphism was genotyped in a group of 247 family trios (offspring 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 offspring.
  
  
  RESULTS
  SA gene Pst1 allele transmission did not differ from random proportion of 50:50, with no significant variation in the slope of reciprocal serum creatinine over time between patients with SA Pst1 A1A1, A1A2, and A2A2 genotypes. In addition, no impact of this marker on the rate of progression of CRF in the course of diabetes mellitus, interstitial nephritis, and chronic glomerular nephritis was shown.
  
  
  CONCLUSIONS
  Results of the study suggest no major role of SA gene polymorphism in promoting renal damage. However, the limited numbers of patients having both parents alive included in the analysis might have resulted in insufficient power to detect a minor impact of this polymorphism, especially if such effect is confined to a certain aetiology of CRF.
authors.affiliation: Department and Clinic of Internal Medicine and Diabetology, Silesian School of Medicine, Zabrze, Poland.
authors.forename: J
authors.initials: J
authors.lastname: Gumprecht
authors.forename: M J
authors.initials: MJ
authors.lastname: Zychma
authors.forename: W
authors.initials: W
authors.lastname: Grzeszczak
authors.forename: E
authors.initials: E
authors.lastname: Zukowska-Szczechowska
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D003066:Coenzyme A Ligases; D003401:Creatine / Q000097:blood; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007676:Kidney Failure, Chronic / Q000097:blood / Q000235:genetics* / Q000628:therapy; D008297:Male; D010530:Peritoneal Dialysis; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D006435:Renal Dialysis
chemical_list: D011506:Proteins; C081817:Acsm3 protein, rat; D003066:Coenzyme A Ligases; D003401:Creatine