title: ACE gene insertion/deletion polymorphism in childhood idiopathic nephrotic syndrome.
abstract: The aim of this study was to determine the distribution of angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism, and its effects on clinical, laboratory, histological findings, treatment responses and progression to end-stage renal disease in childhood idiopathic nephrotic syndrome (NS). 227 children diagnosed with idiopathic NS were included in the study. Eighty-three of patients were steroid resistant and 77 of patients were focal segmental glomerulosclerosis. The control group was consisted of 287 unrelated healthy adult volunteers. ACE gene I/D polymorphism were analyzed by using PCR based method. In the entire group of children with NS, the frequencies of the II, ID, and DD genotypes of ACE gene were 13.7%, 38.3% and 48%, respectively. D allele frequency was higher in NS group than control group (0.67 vs. 0.56, p=0.001). Percentage of frequent relapser patients was found more frequently in ID or DD genotype (38.7%) than II genotype (15%) when only steroid sensitive patients were evaluated (p=0.045). The D-allele frequency was 0.65, 0.69 and 0.68 respectively in focal segmental glomerulosclerosis, biopsy proven minimal change and entire minimal change group (p>0.05) and 0.69 and 0.64 respectively in steroid sensitive and resistant groups (p>0.05). D allele frequency was not significantly different in patients with or without end-stage renal disease (0.64 vs. 0.67 respectively, p>0.005) when 115 patients who were at least five year follow-up were evaluated. The D allele frequency was higher in NS patients than healthy controls and DD or ID genotype was related with frequent relapses. ACE gene I/D polymorphism was not important in laboratory and histological findings and progression of the disease in children with NS.
authors.affiliation: Department of Pediatric Nephrology, Ege University Medical School, Izmir, Turkey. erkin@med.ege.edu.tr
authors.forename: Erkin
authors.initials: E
authors.lastname: Serdaroglu
authors.forename: Sevgi
authors.initials: S
authors.lastname: Mir
authors.forename: Afig
authors.initials: A
authors.lastname: Berdeli
authors.forename: Nejat
authors.initials: N
authors.lastname: Aksu
authors.forename: Mustafa
authors.initials: M
authors.lastname: Bak
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D005923:Glomerulosclerosis, Focal Segmental / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D009404:Nephrotic Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012008:Recurrence
chemical_list: D007703:Peptidyl-Dipeptidase A