ACE gene polymorphism in children with nephrotic syndrome in the Indonesian population.
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.
Sasongko
Teguh Haryo
TH
Division of Public Health, Kobe University Graduate School of Medicine. teguhharyosasongko@yahoo.com
Sadewa
Ahmad Hamim
AH
Kusuma
Pungky Ardani
PA
Damanik
Martua Parlindungan
MP
Lee
Myeong Jin
MJ
Ayaki
Hitoshi
H
Nozu
Kandai
K
Goto
Akinobu
A
Matsuo
Masafumi
M
Nishio
Hisahide
H
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
D007703:Peptidyl-Dipeptidase A