A Study of Human Killer Cell Immunoglobulin-Like Receptor and Multidrug Resistance Gene Polymorphisms in Children With Immune Thrombocytopenia

El-Beblawy, Nagham M. S.; Elbarbary, Nancy Samir; Kamal, Tarek M.; Mahmoud, Perehan Mohsen

doi:10.1177/1076029615576738

Cited by 5 publications

(6 citation statements)

References 50 publications

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Section: Discussionsupporting

confidence: 93%

“…The discrepancy between our results and those reported in other studies can be attributed to small sample size (31 in Akin et al [1] study and 48 in EL-Beblawy et al [23] study vs 90 patients in our study), different ethnicities (Turkish in Akin et al [1] study and Chinese in Xuan et al [27] study vs Egyptians in our study) and different age (Adults in Xuan et al [27] study vs children in our study).…”

Section: Itemcontrasting

confidence: 98%

“…Our results are consistent with those reported by El-Beblawy et al, [23] where frequency of different ABCB1 genotypes and alleles were not significantly different between patients and controls as well as between newly diagnosed and chronic patients with ITP. Also, our results were supported by Akin et al, [1] where they found that ABCB1 genotype and allele distribution in newly diagnosed children with ITP was not different from that of healthy controls.…”

Section: Itemsupporting

confidence: 93%

“…On the contrary, El-Beblawy et al [23] found that there was a significant difference in platelets count among different ABCB1 genotypes where patients with TT genotype had initial higher platelets count compared to patients with CC genotype ( P = .04).…”

Section: Discussionmentioning

confidence: 99%

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Association between ATP binding cassette gene member 1 polymorphism and glucocorticoid response in children with immune thrombocytopenia

et al. 2022

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ATP binding Cassette gene member 1 (ABCB1) polymorphism has been incriminated in susceptibility to many malignant, infectious and autoimmune diseases. Recently, it was reported that ABCB1 polymorphisms might have a link to disease progression as well as response to therapy.We aimed to study the association between ABCB1 gene polymorphism and glucocorticoid response in children with newly diagnosed immune thrombocytopenia (ITP).A case control study was conducted on 90 newly diagnosed children with ITP and 90 healthy controls over a period of 1 year. ABCB1 (C3435T) polymorphism was determined by restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) in patients and controls.There was no significant difference between patients and controls as regards to frequency of different ABCB1 genotypes (CC, CT, and TT genotypes were 44.4%, 36.7%, and 18.9% respectively in patients and 48.9%, 38.9%, and 12.2% respectively in controls, P value = 0.18). 80% of patients who received steroids alone or steroids in combination with intravenous immunoglobulin showed complete recovery. There was highly significant relationship between ABCB1 genotypes and response to steroids where 55 % of responders had CC (wild) genotype while 40 % of nonresponders had TT (mutant) genotype.We concluded that ABCB1 gene polymorphism may contribute to the response to steroids in Egyptian children with ITP where patients with homozygous CC genotype responded better to steroids than patients with homozygous TT genotype. These results may help us choose the appropriate initial treatment in these children.

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Section: Discussionsupporting

confidence: 93%

Section: Itemcontrasting

confidence: 98%

Section: Itemsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 99%

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Association between ATP binding cassette gene member 1 polymorphism and glucocorticoid response in children with immune thrombocytopenia

et al. 2022

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“…In the only other study to date investigating KIRs and ITP, El-Beblawy et al 99 performed comprehensive KIR genotyping in Egyptian children with childhood ITP. This study demonstrated that the KIR2DL2-/KIR2DS2-genotype was overrepresented in children with ITP compared with controls.…”

Section: Kirs and Itpmentioning

confidence: 99%

Killer cell immunoglobulin-like receptors in immune thrombocytopenia

Seymour¹

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Impact of Genetic Polymorphisms on Phenytoin Pharmacokinetics and Clinical Outcomes in the Middle East and North Africa Region

et al. 2017

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BackgroundGenetic polymorphisms are known to influence outcomes with phenytoin yet effects in the Middle East and North Africa region are poorly understood.ObjectivesThe objective of this systematic review was to evaluate the impact of genetic polymorphisms on phenytoin pharmacokinetics and clinical outcomes in populations originating from the Middle East and North Africa region, and to characterize genotypic and allelic frequencies within the region for genetic polymorphisms assessed.MethodsMEDLINE (1946–3 May, 2017), EMBASE (1974–3 May, 2017), Pharmacogenomics Knowledge Base, and Public Health Genomics Knowledge Base online databases were searched. Studies were included if genotyping and analyses of phenytoin pharmacokinetics were performed in patients of the Middle East and North Africa region. Study quality was assessed using a National Institutes of Health assessment tool. A secondary search identified studies reporting genotypic and allelic frequencies of assessed genetic polymorphisms within the Middle East and North Africa region.ResultsFive studies met the inclusion criteria. CYP2C9, CYP2C19, and multidrug resistance protein 1 C3435T variants were evaluated. While CYP2C9*2 and *3 variants significantly reduced phenytoin metabolism, the impacts of CYP2C19*2 and *3 variants were unclear. The multidrug resistance protein 1 CC genotype was associated with drug-resistant epilepsy, but reported impacts on phenytoin pharmacokinetics were conflicting. Appreciable variability in minor allele frequencies existed both between and within countries of the Middle East and North Africa region.Conclusions CYP2C9 decrease-of-function alleles altered phenytoin pharmacokinetics in patients originating from the Middle East and North Africa region. The impacts of CYP2C19 and multidrug resistance protein 1 C3435T variants on phenytoin pharmacokinetic and clinical outcomes are unclear and require further investigation. Future research should focus on the clinical outcomes associated with phenytoin therapy.PROSPERO 2017: CRD42017057850

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A Study of Human Killer Cell Immunoglobulin-Like Receptor and Multidrug Resistance Gene Polymorphisms in Children With Immune Thrombocytopenia

Cited by 5 publications

References 50 publications

Association between ATP binding cassette gene member 1 polymorphism and glucocorticoid response in children with immune thrombocytopenia

Association between ATP binding cassette gene member 1 polymorphism and glucocorticoid response in children with immune thrombocytopenia

Killer cell immunoglobulin-like receptors in immune thrombocytopenia

Impact of Genetic Polymorphisms on Phenytoin Pharmacokinetics and Clinical Outcomes in the Middle East and North Africa Region

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