Association of xenobiotic receptor polymorphisms with carbamazepine response in epilepsy patients

Kong, Fan-Cheng; Ma, Chun-Lai; Lang, Liwei; Zhong, Ming

doi:10.1016/j.gene.2020.145359

Cited by 8 publications

(2 citation statements)

References 37 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The results of haplotype analysis and gene interaction in CBZ response were negative. This study is the first to indicate a potentially significant interaction between CAR rs2502815 polymorphism and CBZ response in patients with epilepsy [ 129 ].…”

Section: Changes In the Structure Of Receptors And Ion Channelsmentioning

confidence: 99%

Pharmacogenetics of Drug-Resistant Epilepsy (Review of Literature)

Smolarz

Makowska

Romanowicz

2021

IJMS

View full text Add to dashboard Cite

Pharmacogenomic studies in epilepsy are justified by the high prevalence rate of this disease and the high cost of its treatment, frequent drug resistance, different response to the drug, the possibility of using reliable methods to assess the control of seizures and side effects of antiepileptic drugs. Candidate genes encode proteins involved in pharmacokinetic processes (drug transporters, metabolizing enzymes), pharmacodynamic processes (receptors, ion channels, enzymes, regulatory proteins, secondary messengers) and drug hypersensitivity (immune factors). This article provides an overview of the literature on the influence of genetic factors on treatment in epilepsy.

show abstract

Section: Changes In the Structure Of Receptors And Ion Channelsmentioning

confidence: 99%

Pharmacogenetics of Drug-Resistant Epilepsy (Review of Literature)

Smolarz

Makowska

Romanowicz

2021

IJMS

View full text Add to dashboard Cite

show abstract

“…Most of the drugs are metabolized by several enzymes, and often a combination of CYPs and non-CYPs. Although the majority of drug biotransformation is performed by the CYP enzymes, other pharmacogenes such as drug transporters and nuclear receptors might participate in many clinically important drugs 23 , 24 . Constitutive androstane receptor (CAR) rs2502815 polymorphism and the carbamazepine response in epilepsy patients was potentially relevant.…”

Section: Discussionmentioning

confidence: 99%

Genetic landscape of 125 pharmacogenes in Chinese from the Chinese Millionome Database

Zhang

Han

et al. 2021

Sci Rep

View full text Add to dashboard Cite

Inter-individual differences of drug responses could be attributed to genetic variants of pharmacogenes such as cytochrome P450 (CYP), phase 2 enzymes, and transporters. In contrast to extensive studies on the genetic polymorphisms of CYP gene, genetic mutation spectrum of other pharmacogenes was under-representative in the pharmacogenetics investigations. Here we studied the genetic variations of 125 pharmacogenes including drug transporters, non-CYP phase 1 enzymes, phase 2 enzymes, nuclear receptors and others in Chinese from the Chinese Millionome Database (CMDB), of which 38,188 variants were identified. Computational analyses of the 2554 exonic variants found 617 deleterious missense variants, 91.1% of which were rare, and of the 54 loss-of-function (splice acceptor, splice donor, start lost, and stop gained) variants, 53 (98.1%) were rare. These results suggested an enrichment of rare variants in functional ones for pharmacogenes. Certain common functional variants including NUDT15 13:48611934 G/A (rs186364861), UGT1A1 2:234676872 C/T (rs34946978), and ALDH2 12:112241766 G/A (rs671) were population-specific for CMDB Chinese because they were absent (with a zero of variant allele frequency) or very rare in other gnomAD populations. These findings might be useful for the further pharmacogenomics research and clinical application in Chinese.

show abstract