Response to prednisone in relation to NR3C1 intron B polymorphisms in childhood nephrotic syndrome

Pediatric Nephrology

Volumn 23, Issue 7, 2008, Pages 1073-1078

  Zalewski, Grzegorz ^a   Wasilewska, Anna ^a   Zoch Zwierz, Walentyna ^a   Chyczewski, Lech ^a  

^a MEDICAL UNIVERSITY OF BIALYSTOK   (Poland)

Author keywords

Glucocorticoid receptor; Haplotypes; Nephrotic syndrome; Polymorphisms

Indexed keywords

CHLORAMBUCIL; CYCLOPHOSPHAMIDE; CYCLOSPORIN A; GENE PRODUCT; GLUCOCORTICOID RECEPTOR; PREDNISONE; PROTEIN BCL 1; PROTEIN NR3C1;

ARTICLE; CHILD; CONTROLLED STUDY; DRUG DOSE REDUCTION; DRUG RESPONSE; DRUG SENSITIVITY; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HAPLOTYPE; HUMAN; HUMAN TISSUE; INTRON; KIDNEY BIOPSY; MAJOR CLINICAL STUDY; MALE; NEPHROTIC SYNDROME; ONSET AGE; PHARMACOGENETICS; POLAND; PRIORITY JOURNAL; PROTEINURIA; RELAPSE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADMINISTRATION, ORAL; CHILD; CHILD, PRESCHOOL; FEMALE; GENE FREQUENCY; GLUCOCORTICOIDS; HAPLOTYPES; HUMANS; INTRONS; MALE; NEPHROTIC SYNDROME; PHENOTYPE; POLAND; POLYMORPHISM, SINGLE NUCLEOTIDE; PREDNISOLONE; PROTEINURIA; RECEPTORS, GLUCOCORTICOID; RETROSPECTIVE STUDIES; TIME FACTORS; TREATMENT OUTCOME;

EID: 44449161294     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-008-0772-7     Document Type: Article

References (18)

1. Hogg RJ, Portman RJ, Milliner D, Lemley KV, Eddy A, Ingelfinger J (2000) Evaluation and management of proteinuria and nephrotic syndrome in children: Recommendations from a pediatric nephrology panel established at the National Kidney Foundation conference on proteinuria, albuminuria, risk, assessment, detection, and elimination (PARADE). Pediatrics 105:1242-1249
2. Lu NZ, Cidlowski JA (2006) Glucocorticoid receptor isoforms generate transcription specificity. Trends Cell Biol 16:301-307
3. Carlotti AP, Franco PB, Elias LL, Facincani I, Costa EL, Foss N, Moreira AC, de Castro M (2004) Glucocorticoid receptors, in vitro steroid sensitivity, and cytokine secretion in idiopathic nephrotic syndrome. Kidney Int 65:403-408
4. Fujii Y, Khoshnoodi J, Takenaka H, Hosoyamada M, Nakajo A, Bessho F, Kudo A, Takahashi S, Arimura Y, Yamada A, Nagasawa T, Ruotsalainen V, Tryggvason K, Lee AS, Yan K (2006) The effect of dexamethasone on defective nephrin transport caused by ER stress: A potential mechanism for the therapeutic action of glucocorticoids in the acquired glomerular diseases. Kidney Int 69:1350-1359
5. Constantinescu AR, Shah HB, Foote EF, Weiss LS (2000) Predicting first-year relapses in children with nephrotic syndrome. Pediatrics 105:492-495
6. Bray PJ, Cotton RG (2003) Variations of the human glucocorticoid receptor gene (NR3C1): Pathological and in vitro mutations and polymorphisms. Hum Mutat 21:557-568
7. Kino T, De Martino MU, Charmandari E, Mirani M, Chrousos GP (2003) Tissue glucocorticoid resistance/hypersensitivity syndromes. J Steroid Biochem Mol Biol 85:457-467
8. Stevens A, Ray DW, Zeggini E, John S, Richards HL, Griffiths CE, Donn R (2004) Glucocorticoid sensitivity is determined by a specific glucocorticoid receptor haplotype. J Clin Endocrinol Metab 89:892-897
9. Report of the International Study of Kidney Disease in Children (1982) Early identification of frequent relapsers among children with minimal change nephrotic syndrome. A report of the International Study of Kidney Disease in Children. J Pediatr 101:514-518
10. Fleury I, Beaulieu P, Primeau M, Labuda D, Sinnett D, Krajinovic M (2003) Characterization of the BclI polymorphism in the glucocorticoid receptor gene. Clin Chem 49:1528-1531
11. Zou GY, Donner A (2006) The merits of testing Hardy-Weinberg equilibrium in the analysis of unmatched case-control data: A cautionary note. Ann Hum Genet 70:923-933
12. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA (2002) Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 70:425-434
13. Turner JD, Schote AB, Macedo JA, Pelascini LP, Muller CP (2006) Tissue specific glucocorticoid receptor expression, a role for alternative first exon usage? Biochem Pharmacol 72:1529-1537
14. Russcher H, Dalm VA, de Jong FH, Brinkmann AO, Hofland LJ, Lamberts SW, Koper JW (2007) Associations between promoter usage and alternative splicing of the glucocorticoid receptor gene. J Mol Endocrinol 38:91-98
15. Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: Exonic mutations that affect splicing. Nat Rev Genet 3:285-298
16. Rajeevan MS, Smith AK, Dimulescu I, Unger ER, Vernon SD, Heim C, Reeves WC (2007) Glucocorticoid receptor polymorphisms and haplotypes associated with chronic fatigue syndrome. Genes Brain Behav 6:167-176
17. Donn R, Payne D, Ray D (2007) Glucocorticoid receptor gene polymorphisms and susceptibility to rheumatoid arthritis. Clin Endocrinol 67:342-345
18. DeRijk RH, Schaaf M, de Kloet ER (2002) Glucocorticoid receptor variants: Clinical implications. J Steroid Biochem Mol Biol 81:103-122