Polymorphisms in drug metabolism genes predict the risk of refractory myasthenia gravis

Zhang, Qing; Ge, Huizhen; Gui, Mengcui; Yang, Mengjiao; Bi, Zhuajin; Xue, Ming; Gu, Zhongya; Peng, Shushi; Chen, Tao; Bu, Bitao

doi:10.21037/atm-22-2543

Cited by 2 publications

(1 citation statement)

References 39 publications

(48 reference statements)

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“…One study found that certain single nucleotide polymorphisms (SNPs) in the glucocorticoid gene influence steroid response in patients with MG (46). Similarly, another study identified polymorphisms in cytochrome P450 3A5 (CYP3A5) and heat shock protein 90AA1 (HSP90AA1) associated with refractory versus non-refractory MG (47). Rose et al demonstrated that AChR antibodies have varied specificity for epitopes on the acetylcholine receptor.…”

Section: Discussionmentioning

confidence: 99%

Refractory myasthenia gravis: the more we learn, the less we know.

Habib

2023

rrnmf

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Refractory myasthenia gravis identifies the group of patients that have inadequate symptom control and persistent muscle weakness and fatigability despite the use of multiple immune modulatory therapies. This manuscript highlights what is currently known about refractory myasthenia gravis and underlines major knowledge gaps, drawing attention to the unmet needs in our understanding of this disease subset. This review raises questions about our current understanding of refractory disease and how emerging data as well as therapies may alter our thinking and patients’ disease course.

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Section: Discussionmentioning

confidence: 99%

Refractory myasthenia gravis: the more we learn, the less we know.

Habib

2023

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Impact of CYP3A4 rs2242480 polymorphisms on Imatinib HPLC determined trough concentration and response in Chronic Myeloid Leukaemia in Pakistani patients

Khan,

Hakim,

Waheed

et al. 2024

F1000Res

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Objective To ascertain the impact of CYP3A4 polymorphism on the therapeutic outcome of imatinib and its trough concentration Study design Descriptive analytical study Place and duration of the study This study was conducted in the Department of Pharmacology & Therapeutics, Islamic International Medical College, between December 2020 and February 2022, in collaboration with the Institute of Biomedical Genetic Engineering, KRL Hospital Islamabad. Methods Patients with Chronic Myeloid Leukaemia age range–18-70 years were included in this study. One group comprised responders and the other group comprised non-responders. Imatinib trough levels in both groups were determined using High-performance Liquid Chromatography and compared, and the association was determined with therapeutic outcomes. DNA was extracted, and the PCR restriction fragment length polymorphism technique was used to identify the alleles. The results were analyzed using Statistical Package for Social Sciences (SPSS) version 22.0. Results The imatinib concentration in patients with the homozygous wild allele CC of rs2242480 was higher(1298ng/ml) as compared with the mutant homozygous TT allele (489ng/ml) or heterozygous allele CT(873ng/ml) Conclusion There was a significant association between imatinib trough levels and CYP3A4 polymorphism, and trough concentration was found to be lower in patients with the TT or CT variant of rs2242480 than in patients with the CC genotype.

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Polymorphisms in drug metabolism genes predict the risk of refractory myasthenia gravis

Cited by 2 publications

References 39 publications

Refractory myasthenia gravis: the more we learn, the less we know.

Refractory myasthenia gravis: the more we learn, the less we know.

Impact of CYP3A4 rs2242480 polymorphisms on Imatinib HPLC determined trough concentration and response in Chronic Myeloid Leukaemia in Pakistani patients

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