title: A genetic study of steroid-resistant nephrotic syndrome: relationship between polymorphism -173 G to C in the MIF gene and serum level MIF in children.
abstract: There is no satisfactory explanation as to why some nephrotic syndrome (NS) patients respond to glucocorticoids and others do not. The aim of this study was to investigate an association between single nucleotide polymorphism of the MIF gene -rs755622 and serum MIF concentrations in NS patients. During a period between November 2011 and September 2012, 120 consecutive children divided into three groups [healthy children, steroid-resistant nephrotic syndrome (SRNS) and steroid-sensitive nephrotic syndrome (SSNS)] were examined. Children were defined as healthy when they had a normal estimated glomerular filtration rate and spot urinary albumin creatinine ratio <150 μg/mg creatinine. SRNS was diagnosed in children who did not respond to the usual doses of steroids within 4 weeks of initiating treatment. SSNS patients were defined as those who had remission after usual doses of steroids. The genotype of -173 G to C polymorphism of the MIF gene was determined using polymerase chain reaction restriction fragment length polymorphism methods. Serum MIF concentration was measured using sandwich enzyme-linked immunosorbent assay. The allele frequency of the C allele was higher in SRNS compared with that of SSNS patients (P=0.025). There was a trend toward an association between genotypes and serum MIF disturbances. In conclusion, this study noted elevated circulating serum MIF levels and higher frequency of the C allele of the MIF gene in SRNS patients. The presence of the C allele implies an increased risk for steroid resistance.
authors.affiliation: 1Department of Pediatrics,Sumatera Utara University,Medan,North Sumatera,Indonesia.
authors.forename: O R
authors.initials: OR
authors.lastname: Ramayani
authors.affiliation: 2Department of Pediatrics,Padjajaran University,Bandung,West Java,Indonesia.
authors.forename: N
authors.initials: N
authors.lastname: Sekarwana
authors.affiliation: 3Department of Pediatrics,Indonesia University,Jakarta,Indonesia.
authors.forename: P P
authors.initials: PP
authors.lastname: Trihono
authors.affiliation: 4Department of Biochemistry,Gadjah Mada University,Jogjakarta,Indonesia.
authors.forename: A H
authors.initials: AH
authors.lastname: Sadewa
authors.affiliation: 5Department of Pharmacology and Therapeutics,Sumatera Utara University,Medan,North Sumatera,Indonesia.
authors.forename: A
authors.initials: A
authors.lastname: Lelo
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D019746:Intramolecular Oxidoreductases / Q000097:blood / Q000235:genetics*; D008263:Macrophage Migration-Inhibitory Factors / Q000097:blood / Q000235:genetics*; D008297:Male; D009404:Nephrotic Syndrome / Q000097:blood / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D008263:Macrophage Migration-Inhibitory Factors; D019746:Intramolecular Oxidoreductases; C515598:MIF protein, human
keywords: macrophage inhibitory factor; nephrotic syndrome; steroid resistant