Dataset Information

Gephyrin and CYP2C9 Genetic Polymorphisms in Patients with Pharmacoresistant Epilepsy.

ABSTRACT:

Purpose

Gephyrin (GPHN) is an essential protein in the regulation of inhibitory postsynaptic density and polymorphism in the corresponding gene may have a role in the development of pharmacoresistant epilepsy (PRE). For the first time, we aimed to evaluate the association of rs928553T/C variants with PRE susceptibility. Moreover, we have analyzed the genetic polymorphism affecting CYP2C9 "rs12782374G/A" in the same population to detect the effect of SNP on the drug-metabolizing ability of patients with PRE.

Patients and methods

This case-control study enrolled 100 patients (group A) and 100 healthy, age and sex-matched controls, unrelated to patients (group B). TaqMan™ assays using real-time PCR were run for genotyping of rs928553T/C and rs12782374G/A in all participants.

Results

GPHN T>C polymorphism revealed significant risk association with occurrence of PRE using dominant, recessive and codominant models as follows: TT vs (TC+CC): OR 0.23, 95%CI: 0.13-0.43, P<0.001. In addition, (TT+TC vs CC): OR 0.38, 95%CI: 0.18-0.77, P<0.001. Also, T vs C (OR 0.34, 95%CI: 0.22-0.51, P=<0.001). Similarly, CYP2C9 G>A polymorphism showed a significant increased risk of PRE (GG vs (GA+AA): OR 0.11, 95%CI: 0.05-0.23, P<0.001). Furthermore, (GG+GA vs AA): OR 0.18, 95%CI: 0.084-0.39, P<0.001. Also, G vs A (OR 0.24, 95%CI: 0.15-0.366, P=<0.001).

Conclusion

Mutation of both GPHN (rs928553) and CYP2C9 (rs1278237) genes may be implicated as a genetic mediators of resistance in patients with PRE.

SUBMITTER: El-Tallawy HN

PROVIDER: S-EPMC8437390 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

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Publications

Gephyrin and <i>CYP2C9</i> Genetic Polymorphisms in Patients with Pharmacoresistant Epilepsy.

El-Tallawy Hamdy N HN Abuhamdah Sawsan S Nassar Ahmed Y AY Farghaly Wafaa M A WMA Saleem Tahia H TH Atta Sara A SA Sayed Ayat A AA Tohamy Amal M AM Hassan Mohammed H MH

Pharmacogenomics and personalized medicine 20210909

<h4>Purpose</h4>Gephyrin (<i>GPHN</i>) is an essential protein in the regulation of inhibitory postsynaptic density and polymorphism in the corresponding gene may have a role in the development of pharmacoresistant epilepsy (PRE). For the first time, we aimed to evaluate the association of rs928553T/C variants with PRE susceptibility. Moreover, we have analyzed the genetic polymorphism affecting <i>CYP2C9</i> "rs12782374G/A" in the same population to detect the effect of SNP on the drug-metaboli ...[more]

PMID: 34526803

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