Abstract

Distribution of Different Genotypes MTHFR and GABRG2 Genes in Epileptic Population of Khyber Pakhtunkhwa Pakistan

Author(s): Shakir Ullah*, Niaz Ali, Saad Ali, Adnan Khan, Sajjad Ahmad and Zia uddin

Objectives: The present study determines the frequencies of different types of resistant epilepsies to carbamazepine and valproic acid therapy in population of Khyber Pakhtunkhwa. The study also determines the frequencies of MTHFR (C677T, A1298C) and GABRG2 (C588T, C315T) genes polymorphisms in population of KP as the said genes have role in management of epilepsies.

Materials and methods: Epileptic patients treated with carbamazepine and valproic acid therapy were enrolled in the study. DNA was extracted from the blood and genotyped for the MTHFR and GABRG2 genes polymorphisms using restriction fragment length polymorphisms (PCR-RFLP). Seizure control and adverse drug reactions were recorded during the treatment.

Results: There were 64% males and 34% females. Frequency of PGS was 79% of epilepsies. Heterozygous variants of MTHFR (C677T) gene was 50% in ATS and 40% in FS. Heterozygous variants of MTHFR (A1298C) and GABRG2 (C315T) genes were, respectively, 40% and 20% in FS. Heterozygous variant of GABRG2 (C315T) gene was 50% in ATS. Resistant heterozygous variants of MTHFR (C677T, A1298C) gene were respectively 41.5% and 15.1% with carbamazepine therapy. Resistant heterozygous variant of MTHFR (A1298C) gene was 34.8% to valproic acid therapy. Anemia associated with carbazmepine was 40% in heterozygous variants of MTHFR (C677T) and GABRG2 (C315T) genes.

Conclusion: Heterozygous variants of MTHFR (C677T, A1298C) gene were respectively resistant to carbamazepine and valproic acid therapy. While heterozygous variant of GABRG2 (C315T) was only resistant to valproic acid. Carbamazepine and valproic acid therapy was associated with anemia in heterozygous variant of MTHFR (C677T) gene.

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