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12-02-2022 | Juvenile Myoclonic Epilepsy | Original Article

Impact of GABA_A receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case–control study

Authors: Maryam Amjad, Atiya Tabassum, Khalid Sher, Suneel Kumar, Sitwat Zehra, Sehrish Fatima

Published in: Neurological Sciences | Issue 7/2022

Abstract

Epilepsy is one of the most common neurological disorders with the incidence rate higher in developing states. It is a multifactorial ailment in which genetic diversity along with other factors plays an important role. The objective of this study was to assess the involvement of different risk factors including single nucleotide polymorphisms (SNPs) present in GABRA1 (rs2279020) and GABRG2 (rs211037) genes with the susceptibility to epilepsy in the targeted population. Blood samples of 180 subjects were taken and genotyped through tetra-primer amplification refractory mutation system-polymerase chain reaction technique. The obtained demographic and genotypic data were analyzed through different statistical tools including χ² (chi-square) test and odds ratio. Parental consanguinity and family history of seizures were observed in a considerable number of cases of this study along with residency in industrial areas. But, no association of rs2279020 (χ² = 0.900, P = 0.638) and rs211037 (χ² = 0.045, P = 0.832) was observed with predisposition to epilepsy. However, GG genotype of rs2279020 was observed more in female cases as compared to male cases. Furthermore, TG haplotype was observed to be associated with the increased risk of developing epilepsy (χ² = 9.097; OR = 2.586; P = 0.002). Genetic models also showed no correlation of the targeted SNPs with the susceptibility to epilepsy. The outcomes of the present study suggested that neither rs211037 nor rs2279020 were associated with increased susceptibility to epilepsy in the targeted population.

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Title: Impact of GABAA receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case–control study
Authors: Maryam Amjad
Atiya Tabassum
Khalid Sher
Suneel Kumar
Sitwat Zehra
Sehrish Fatima
Publication date: 12-02-2022
Publisher: Springer International Publishing
Keywords: Juvenile Myoclonic Epilepsy
Epilepsy
Published in: Neurological Sciences / Issue 7/2022
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-022-05947-7

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Impact of GABA_A receptor gene variants (rs2279020 and rs211037) on the risk of predisposition to epilepsy: a case–control study

Abstract

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

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