Prevalence of UGT1A6 polymorphisms in children with epilepsy on valproate monotherapy

Jain, Puneet; Shastri, Shivaram; Gulati, Sheffali; Kaleekal, Thomas; Kabra, Madhulika; Gupta, Neerja; Gupta, Yogendra Kumar; Pandey, Ravindra Mohan

doi:10.4103/0028-3886.152631

Cited by 15 publications

(4 citation statements)

References 16 publications

(25 reference statements)

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“…In the Chinese pediatric epileptic population, the predominant genetic polymorphism pattern observed was wild type while in our study population the predominant pattern observed was mutant type. However, there was no difference in the genetic pattern between our patients (South Indian) and North Indian pediatric epileptic patients ( 8 , 16 ).…”

Section: Discussioncontrasting

confidence: 54%

“…Different studies have reported different observations as to UGT gene polymorphism and its effect on sodium valproate concentration. Jain et al ( 16 ), Wang et al ( 18 ), and Chu et al ( 12 ) reported no significant effect of polymorphisms on serum valproate concentrations. None of the available literature to date has explained the influence of UGT genetic variants on the clinical outcome of sodium valproate monotherapy.…”

Section: Discussionmentioning

confidence: 98%

“…This showed toxicity in the intermediate metabolizers group or the extensive metabolizers group and it, thereby, has an impact on the toxicity of the sodium valproate drug found in the North Indian epileptic population. Jain et al ( 16 ) reported that there was no significant association between sodium valproate doses, serum valproate concentration, and UGT1A6 genotypes in the North Indian population of children with epilepsy. Algharably et al ( 19 ) reported in an Egyptian study that gene polymorphism of UGT1A6 at 541A>G and 552A>C loci may influence the clinical response profile of pediatric epileptic patients including both adverse drug reactions and seizure activity.…”

Section: Discussionmentioning

confidence: 99%

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Association of UGT1A6 gene polymorphism with clinical outcome in pediatric epileptic patients on sodium valproate monotherapy

Banawalikar

Adiga

et al. 2021

Braz J Med Biol Res

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Pediatric epilepsy comprises chronic neurological disorders characterized by recurrent seizures. Sodium valproate is one of the common antiseizure medications used for treatment. Glucuronide conjugation is the major metabolic pathway of sodium valproate, carried out by the enzyme uridine 5′-diphosphate (UDP) glucuronosyl transferase (UGT) whose gene polymorphisms may alter the clinical outcome. The objective of this study was to assess the association between UGT1A6 genetic polymorphism and clinical outcome in terms of efficacy and tolerability in pediatric epileptic patients on sodium valproate monotherapy. Pediatric epileptic patients (n=65) aged 2-18 years receiving sodium valproate monotherapy for the past one month were included. Genetic polymorphism patterns of UGT1A6 (T19G, A541G, A552C) were evaluated by PCR-RFLP. Clinical outcome was seizure control during the 6 months observation period. Tolerability was measured by estimating the hepatic, renal, and other lab parameters. Out of 65 patients, TT (40%), TG (57%), and GG (3%) patterns were observed in UGT1A6 (T19G) gene, AA (51%), AG (40%), and GG (9%) in (A541G) gene, and AA (43%), AC (43%), and CC (14%) in (A552C) gene. No statistical difference in clinical outcome was found for different UGT1A6 genetic polymorphism patterns. We concluded that different patterns of UGT1A6 genetic polymorphism were not associated with the clinical outcome of sodium valproate in terms of efficacy and tolerability. Sodium valproate was well-tolerated among pediatric patients with epilepsy and can be used as an effective antiseizure medication.

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Section: Discussioncontrasting

confidence: 54%

Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Association of UGT1A6 gene polymorphism with clinical outcome in pediatric epileptic patients on sodium valproate monotherapy

Banawalikar

Adiga

et al. 2021

Braz J Med Biol Res

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“…This allele is found predominantly in the Asian population [ 236 ]. Some studies have associated UGT1A9 rs2741049 and rs6731242 SNPs with enhanced enzyme activities [ 237 , 238 , 239 ]. Some other SNPs have also been correlated with increased enzyme activity of UGT1A9 [ 240 ].…”

Section: Pharmacogenomics Of Metabolismmentioning

confidence: 99%

Cannabis Pharmacogenomics: A Path to Personalized Medicine

Babayeva

Loewy

2023

CIMB

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Cannabis and related compounds have created significant research interest as a promising therapy in many disorders. However, the individual therapeutic effects of cannabinoids and the incidence of side effects are still difficult to determine. Pharmacogenomics may provide the answers to many questions and concerns regarding the cannabis/cannabinoid treatment and help us to understand the variability in individual responses and associated risks. Pharmacogenomics research has made meaningful progress in identifying genetic variations that play a critical role in interpatient variability in response to cannabis. This review classifies the current knowledge of pharmacogenomics associated with medical marijuana and related compounds and can assist in improving the outcomes of cannabinoid therapy and to minimize the adverse effects of cannabis use. Specific examples of pharmacogenomics informing pharmacotherapy as a path to personalized medicine are discussed.

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Effects of UGT1A9 genetic polymorphisms on monohydroxylated derivative of oxcarbazepine concentrations and oxcarbazepine monotherapeutic efficacy in Chinese patients with epilepsy

Fang

et al. 2016

Eur J Clin Pharmacol

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Prevalence of UGT1A6 polymorphisms in children with epilepsy on valproate monotherapy

Abstract: The frequencies of UGT1A6 geneotypes and alleles were reported in the study population.

Cited by 15 publications

References 16 publications

Association of UGT1A6 gene polymorphism with clinical outcome in pediatric epileptic patients on sodium valproate monotherapy

Association of UGT1A6 gene polymorphism with clinical outcome in pediatric epileptic patients on sodium valproate monotherapy

Cannabis Pharmacogenomics: A Path to Personalized Medicine

Effects of UGT1A9 genetic polymorphisms on monohydroxylated derivative of oxcarbazepine concentrations and oxcarbazepine monotherapeutic efficacy in Chinese patients with epilepsy

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