<i>ABCB1</i> polymorphisms and steroid treatment in children with idiopathic nephrotic syndrome

Safan, Manal A; Elhelbawy, Nesreen G; Midan, Dina A; Khader, Heba F

doi:10.1080/09674845.2016.1220707

Cited by 12 publications

(21 citation statements)

References 30 publications

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“…The subjects in 4 studies were Asian [ 16 , 17 , 34 , 35 ] and those from the other 5 were Caucasian. [ 14 , 15 , 31 – 33 ] Seven studies reported genotype frequencies between patients with INS and healthy controls, [ 14 – 16 , 31 , 32 , 34 , 35 ] and 7 studies showed the genotype data of SS and SR groups. [ 14 – 17 , 32 , 33 , 35 ] Haplotype frequencies of both case and control cohorts were described in part in 4 studies.…”

Section: Resultsmentioning

confidence: 99%

“…[ 14 , 15 , 31 – 33 ] Seven studies reported genotype frequencies between patients with INS and healthy controls, [ 14 – 16 , 31 , 32 , 34 , 35 ] and 7 studies showed the genotype data of SS and SR groups. [ 14 – 17 , 32 , 33 , 35 ] Haplotype frequencies of both case and control cohorts were described in part in 4 studies. [ 14 , 15 , 32 , 35 ] SS and SR groups were also compared in 4 studies (details provided in Table 1 ).…”

Section: Resultsmentioning

confidence: 99%

“…[ 14 – 16 , 35 ] Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used for genotyping in 6 studies, [ 14 – 16 , 31 , 34 , 35 ] the TaqMan genotyping assay was performed in 1 study, [ 17 ] and the 2 remaining studies used real-time PCR. [ 32 , 33 ] Blood samples were collected for genotyping in all studies. We tested the controls from all 9 studies for HWE and found that the controls in 1 study were not in HWE for rs1045642 and rs2032582 ( P < .001).…”

Section: Resultsmentioning

confidence: 99%

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A PRISMA-compliant meta-analysis of MDR1 polymorphisms and idiopathic nephrotic syndrome

Han

Xu²,

Lü³

et al. 2017

Medicine

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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A PRISMA-compliant meta-analysis of MDR1 polymorphisms and idiopathic nephrotic syndrome

Han

Xu²,

Lü³

et al. 2017

Medicine

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“…Several studies have been conducted to evaluate the association of P-glycoprotein polymorphisms with the responsiveness to glucocorticoids in patients with nephrotic syndrome. The results of these studies on the significance of the genetic polymorphisms are contradictory [ 71 , 82 – 84 , 86 , 104 , 120 , 121 ]. A recent meta-analysis concluded that there is evidence of an association between rs1128503 and increased risk of steroid resistance in children with nephrotic syndrome [ 122 ].…”

Section: Pharmacogeneticsmentioning

confidence: 99%

Pharmacology and pharmacogenetics of prednisone and prednisolone in patients with nephrotic syndrome

Schijvens

Heine²,

Wildt

et al. 2018

Pediatr Nephrol

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Nephrotic syndrome is one of the most common glomerular disorders in childhood. Glucocorticoids have been the cornerstone of the treatment of childhood nephrotic syndrome for several decades, as the majority of children achieves complete remission after prednisone or prednisolone treatment. Currently, treatment guidelines for the first manifestation and relapse of nephrotic syndrome are mostly standardized, while large inter-individual variation is present in the clinical course of disease and side effects of glucocorticoid treatment. This review describes the mechanisms of glucocorticoid action and clinical pharmacokinetics and pharmacodynamics of prednisone and prednisolone in nephrotic syndrome patients. However, these mechanisms do not account for the large inter-individual variability in the response to glucocorticoid treatment. Previous research has shown that genetic factors can have a major influence on the pharmacokinetic and dynamic profile of the individual patient. Therefore, pharmacogenetics may have a promising role in personalized medicine for patients with nephrotic syndrome. Currently, little is known about the impact of genetic polymorphisms on glucocorticoid response and steroid-related toxicities in children with nephrotic syndrome. Although the evidence is limited, the data summarized in this study do suggest a role for pharmacogenetics to improve individualization of glucocorticoid therapy. Therefore, studies in larger cohorts with nephrotic syndrome patients are necessary to draw final conclusions about the influence of genetic polymorphisms on the glucocorticoid response and steroid-related toxicities to ultimately implement pharmacogenetics in clinical practice.

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“…Aside from the obvious connection between glucocorticoid receptor (GR) function and corticosteroid response, the products of CYP3A4, CYP3A5 , and ABCB1 are required for metabolism of calcineurin inhibitors like tacrolimus, providing biologic relevance to these variant associations. However, while associations have been identified between variants in GR and ABCB1 and steroid response in patients with NS, none of these genes have been found to be associated with increased incidence of SSNS (Table 4) (95–103). Additional associations between biologically relevant molecules and steroid response or relapse rates in NS patients including variants in genes encoding important signaling molecules such as Tumor necrosis factor alpha ( TNF α), Angiotensin-converting enzyme ( ACE ), Interleukin 4 ( IL4 ), and Interleukin 12 ( IL12B promoter) have been reported (Table 4) (104–108).…”

Section: Evidence That Ssns Has Strong Genetic Componentmentioning

confidence: 99%

Genetics of Childhood Steroid Sensitive Nephrotic Syndrome: An Update

et al. 2019

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Advances in genome science in the last 20 years have led to the discovery of over 50 single gene causes and genetic risk loci for steroid resistant nephrotic syndrome (SRNS). Despite these advances, the genetic architecture of childhood steroid sensitive nephrotic syndrome (SSNS) remains poorly understood due in large part to the varying clinical course of SSNS over time. Recent exome and genome wide association studies from well-defined cohorts of children with SSNS identified variants in multiple MHC class II molecules such as HLA-DQA1 and HLA-DQB1 as risk factors for SSNS, thus stressing the central role of adaptive immunity in the pathogenesis of SSNS. However, evidence suggests that unknown second hit risk loci outside of the MHC locus and environmental factors also make significant contributions to disease. In this review, we examine what is currently known about the genetics of SSNS, the implications of recent findings on our understanding of pathogenesis of SSNS, and how we can utilize these results and findings from future studies to improve the management of children with nephrotic syndrome.

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ABCB1 polymorphisms and steroid treatment in children with idiopathic nephrotic syndrome

Abstract: 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.

Cited by 12 publications

References 30 publications

A PRISMA-compliant meta-analysis of MDR1 polymorphisms and idiopathic nephrotic syndrome

A PRISMA-compliant meta-analysis of MDR1 polymorphisms and idiopathic nephrotic syndrome

Pharmacology and pharmacogenetics of prednisone and prednisolone in patients with nephrotic syndrome

Genetics of Childhood Steroid Sensitive Nephrotic Syndrome: An Update

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