title: ACE gene polymorphism in children with nephrotic syndrome in the Indonesian population.
abstract: BACKGROUND
  The angiotensin converting enzyme (ACE) gene carries insertion (I) and deletion (D) polymorphism within its intron 16. The presence of D-allele in the ACE gene has been reported as a probable genetic risk factor for idiopathic nephrotic syndrome (INS), especially the subtype of focal segmental glomerulosclerosis (FSGS). The D-allele may be related to poor responsiveness to steroid therapy. To clarify the relationship between the D-allele and INS, we studied the prevalence of the D-allele in the Javanese-Indonesian patients. Additionally, we also analyzed relationship between each genotype and steroid sensitivity among the MCNS patients.
  
  
  METHODS
  Eighty-five Javanese-Indonesian patients under 15 years of age with INS were enrolled in this study: 16 patients with FSGS and 69 patients with minimal change nephrotic syndrome (MCNS). As controls, 68 healthy adult Javanese-Indonesians with no history of kidney disease volunteered to participate in this study. Genotypes based on the polymorphisms (I/D) were determined by using a PCR method. As for the steroid responsiveness, the information of 14 out of 16 FSGS patient (87.5%) and 69 out of 69 MCNS patients (100%) was available.
  
  
  RESULTS
  The genotype frequencies in the FSGS patients were II 37% (6/16), ID 44% (7/16) and DD 19% (3/16), and the D-allele frequency was 41% (13/32). The genotype frequencies in the MCNS patients were II 56% (39/69), ID 38% (26/69) and DD 6% (4/69), and the D-allele frequency was 25% (34/138). The genotype frequencies in the controls were II 60% (41/68), ID 31% (21/68), and DD 9% (6/68), and the D-allele frequency was 26% (33/136). None of the FSGS patients were sensitive to steroid, while almost all MCNS patients (66/69) were sensitive to steroid. The genotype frequencies among steroid-sensitive MCNS patients were consistent with those of the controls, suggesting that there was no relationship between each genotype and steroid sensitivity.
  
  
  CONCLUSIONS
  In the Javanese-Indonesian population, none of the comparisons showed any significant differences in the genotypic distribution and allelic frequencies among the three groups, FSGS, MCNS and controls, although D-allele tended to exist more frequently in FSGS patients than in the MCNS patients and controls. In addition, the D-allele frequency was not related to steroid sensitivity in the MCNS patients.
authors.affiliation: Division of Public Health, Kobe University Graduate School of Medicine. teguhharyosasongko@yahoo.com
authors.forename: Teguh Haryo
authors.initials: TH
authors.lastname: Sasongko
authors.forename: Ahmad Hamim
authors.initials: AH
authors.lastname: Sadewa
authors.forename: Pungky Ardani
authors.initials: PA
authors.lastname: Kusuma
authors.forename: Martua Parlindungan
authors.initials: MP
authors.lastname: Damanik
authors.forename: Myeong Jin
authors.initials: MJ
authors.lastname: Lee
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Ayaki
authors.forename: Kandai
authors.initials: K
authors.lastname: Nozu
authors.forename: Akinobu
authors.initials: A
authors.lastname: Goto
authors.forename: Masafumi
authors.initials: M
authors.lastname: Matsuo
authors.forename: Hisahide
authors.initials: H
authors.lastname: Nishio
mesh_terms: D000293:Adolescent; D000483:Alleles; D044466:Asian People; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D005923:Glomerulosclerosis, Focal Segmental / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009402:Nephrosis, Lipoid / Q000201:enzymology / Q000235:genetics*; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D007703:Peptidyl-Dipeptidase A