ABCB1 polymorphisms and steroid treatment in children with idiopathic nephrotic syndrome

• Published in: British journal of biomedical science Vol. 74; no. 1; p. 36
• Main Authors: Safan, Manal A, Elhelbawy, Nesreen G, Midan, Dina A, Khader, Heba F
• Format: Journal Article
• Language: English
• Published: England 01.01.2017
• Subjects: ABCB1 gene; idiopathic nephrotic syndrome; real-time PCR
• ISSN: 0967-4845; 2474-0896
• DOI: 10.1080/09674845.2016.1220707

The most common cause of nephrotic syndrome (NS) is idiopathic nephrotic syndrome (INS), also called nephrosis. Although most patients respond to steroid therapy, there is unequal response to treatment suggesting the involvement of genetic factors. The current study was conducted to evaluate the influence of two single nucleotide polymorphisms (SNPs) in ABCB1 (C3435T and C1236T) on the steroid treatment response in INS children. Genotyping of ABCB1 C3435T and C1236T polymorphisms by real time PCR were conducted on 120 INS children, 80 steroid sensitive (SS) and 40 steroid resistant (SR). A significant difference in the distribution of ABCB1 C3435T and C1236T genotypes was observed between SS and SR patients. C1236T polymorphism was associated with steroid resistance in INS children (odds ratio: 2.27, 95 % confidence interval: 1.2-4.4; P = 0.012). The frequency of the T allele was significantly higher in SR than in SS patients (81.2 vs. 65.6%, respectively). The odds ratio for the C3435T polymorphism in response to steroid treatment was smaller than that of the polymorphism C1236T, and did not reach statistical significance (odds ratio: 1.1, 95 % confidence interval: 0.6-1.9; P = 0.77). Our results suggested that C1236T polymorphism in ABCB1 gene was associated with steroid resistance. A higher proportion of SR children had C1236T TT genotype and T allele, these patients may require other therapeutic strategies.