Korean Journal of Pediatrics 2009;52(11):1260-1266.
Published online November 15, 2009.
Polymorphisms of the NR3C1 gene in Korean children with nephrotic syndrome
Hee Yeon Cho2, Hyun Jin Choi2, So Hee Lee2, Hyun Kyung Lee2, Hee Kyung Kang1, Il Soo Ha3, Yong Choi3, Hae Il Cheong1
1Department of Pediatrics, Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Research Center for Rare Diseases, Seoul, Korea
2Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, Korea
3Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea
한국 신증후군 환아에서 NR3C1 유전자 다형성 분석
조희연2, 최현진2, 이소희2, 이현경2, 강희경1, 하일수3, 최용3, 정해일1
1서울대학교 어린이병원 소아과학교실, 서울대학교 의과대학 신장연구소, 희귀병 연구소
2서울대학교 의과대학 소아과학교실
3서울대학교 어린이병원 소아과학교실, 서울대학교 의과대학 신장연구소
Hae Il Cheong, Email: cheonghi@snu.ac.kr
: Idiopathic nephrotic syndrome (NS) can be clinically classified as steroid-sensitive and steroid-resistant. The detailed mechanism of glucocorticoid action in NS is currently unknown.
: In this study, we investigated 3 known single nucleotide polymorphisms (SNPs) (ER22/23EK, N363S, and BclI) of the glucocorticoid receptor gene (the NR3C1 gene) in 190 children with NS using polymerase chain reaction-restriction fragment length polymorphism and analyzed the correlation between the genotypes and clinicopathologic features of the patients.
: Eighty patients (42.1%) were initial steroid nonresponders, of which 31 (16.3% of the total) developed end-stage renal disease during follow-up. Renal biopsy findings of 133 patients were available, of which 36 (31.9%) showed minimal changes in NS and 77 (68.1%) had focal segmental glomerulosclerosis. The distribution of the BclI genotypes was comparable between the patient and control groups, and the G allele frequencies in both the groups were almost the same. The ER22/23EK and N363S genotypes were homogenous as ER/ER and NN, respectively, in all the patients and in 100 control subjects. The BclI genotype showed no correlation with the NS onset age, initial steroid responsiveness, renal pathologic findings, or progression to end-stage renal disease.
: These data suggested that the ER22/23EK, N363S, and BclI SNPs in the NR3C1 gene do not affect the development of NS, initial steroid responsiveness, renal pathologic lesion, and progression to end-stage renal disease in Korean children with NS.
Key Words: Children, Nephrotic syndrome, Glucocorticoid receptor, NR3C1, Single nucleotide polymorphism

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