title: Is carnosinase 1 gene (CNDP1) polymorphism associated with chronic kidney disease progression in children and young adults? results of a family-based study.
abstract: OBJECTIVE
  The aim of the study was to investigate the role of the D18S880 microsatellite polymorphism of carnosinase 1 gene (CNDP1), which encodes serum carnosinase, in the development and progression of chronic kidney disease (CKD) of nondiabetic etiology.
  
  
  METHODS
  We applied two different approaches. First, a family-based study was carried out comprising 109 patients with CKD caused by chronic glomerulonephritis (GN) or tubulointerstitial nephritis (IN) and their 218 healthy parents using the transmission/disequilibrium test. CNDP1 polymorphism and serum carnosinase activity were determined in all subjects. Serum carnosinase activity was also measured in 20 healthy controls. Second, we performed a case-control study to determine whether polymorphism in CNDP1 gene and other factors influence the progression of renal impairment.
  
  
  RESULTS
  Preferential transmission of the 5 allele of CNDP1 polymorphism from heterozygous parents to their offspring with CKD caused by GN was found. There was no association between that polymorphism and the loss of glomerular filtration rate. Serum carnosinase activity was significantly higher in CKD patients than in controls.
  
  
  CONCLUSIONS
  This study found no association between the CNDP1 polymorphism and increased risk for development of CKD caused by IN. However, the polymorphism can influence CKD caused by GN. The progression rate of CKD does not depend on this polymorphism. The increased serum carnosinase activity in the CKD patients may suggest its role in the pathomechanism of the disease.
authors.affiliation: Department of Paediatric Nephrology, Wrocław Medical University, Poland. kilis@nefped.am.wroc.pl
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Kiliś-Pstrusińska
authors.forename: Danuta
authors.initials: D
authors.lastname: Zwolińska
authors.forename: Władysław
authors.initials: W
authors.lastname: Grzeszczak
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004150:Dipeptidases / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000235:genetics* / Q000473:pathology; D008297:Male; D011110:Polymorphism, Genetic
chemical_list: C522928:CNDP1 protein, human; D004150:Dipeptidases