Literature DB >> 35150350

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

Maryam Amjad1, Atiya Tabassum1, Khalid Sher2, Suneel Kumar2, Sitwat Zehra1, Sehrish Fatima3.   

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.
© 2022. Fondazione Società Italiana di Neurologia.

Entities:  

Keywords:  Epilepsy; GABRA1; GABRG2; Pakistan; rs211037; rs2279020

Mesh:

Substances:

Year:  2022        PMID: 35150350     DOI: 10.1007/s10072-022-05947-7

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


  27 in total

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Review 2.  Epilepsy: A Spectrum Disorder.

Authors:  Joseph I Sirven
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3.  Potential role of GABAA receptor subunit; GABRA6, GABRB2 and GABRR2 gene polymorphisms in epilepsy susceptibility and pharmacotherapy in North Indian population.

Authors:  Ritu Kumari; Ram Lakhan; J Kalita; R K Garg; U K Misra; Balraj Mittal
Journal:  Clin Chim Acta       Date:  2011-03-21       Impact factor: 3.786

4.  ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology.

Authors:  Ingrid E Scheffer; Samuel Berkovic; Giuseppe Capovilla; Mary B Connolly; Jacqueline French; Laura Guilhoto; Edouard Hirsch; Satish Jain; Gary W Mathern; Solomon L Moshé; Douglas R Nordli; Emilio Perucca; Torbjörn Tomson; Samuel Wiebe; Yue-Hua Zhang; Sameer M Zuberi
Journal:  Epilepsia       Date:  2017-03-08       Impact factor: 5.864

5.  Association of GABRG2 polymorphisms with idiopathic generalized epilepsy.

Authors:  I-Ching Chou; Cheng-Chun Lee; Chang-Hai Tsai; Yuhsin Tsai; Lei Wan; Yu-An Hsu; Tsai-Chung Li; Fuu-Jen Tsai
Journal:  Pediatr Neurol       Date:  2007-01       Impact factor: 3.372

Review 6.  International Union of Pharmacology. LXX. Subtypes of gamma-aminobutyric acid(A) receptors: classification on the basis of subunit composition, pharmacology, and function. Update.

Authors:  Richard W Olsen; Werner Sieghart
Journal:  Pharmacol Rev       Date:  2008-09-12       Impact factor: 25.468

7.  Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study.

Authors:  Gianpiero L Cavalleri; Michael E Weale; Kevin V Shianna; Rinki Singh; John M Lynch; Bronwyn Grinton; Cassandra Szoeke; Kevin Murphy; Peter Kinirons; Deirdre O'Rourke; Dongliang Ge; Chantal Depondt; Kristl G Claeys; Massimo Pandolfo; Curtis Gumbs; Nicole Walley; James McNamara; John C Mulley; Kristen N Linney; Leslie J Sheffield; Rodney A Radtke; Sarah K Tate; Stephanie L Chissoe; Rachel A Gibson; David Hosford; Alice Stanton; Tracey D Graves; Michael G Hanna; Kai Eriksson; Anne-Mari Kantanen; Reetta Kalviainen; Terence J O'Brien; Josemir W Sander; John S Duncan; Ingrid E Scheffer; Samuel F Berkovic; Nicholas W Wood; Colin P Doherty; Norman Delanty; Sanjay M Sisodiya; David B Goldstein
Journal:  Lancet Neurol       Date:  2007-11       Impact factor: 44.182

8.  Epilepsy in Pakistan: a population-based epidemiologic study.

Authors:  H Aziz; S M Ali; P Frances; M I Khan; K Z Hasan
Journal:  Epilepsia       Date:  1994 Sep-Oct       Impact factor: 5.864

9.  GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures.

Authors:  Shabeesh Balan; Sanish Sathyan; Saradalekshmi K Radha; Vijai Joseph; Kurupath Radhakrishnan; Moinak Banerjee
Journal:  Pharmacogenet Genomics       Date:  2013-11       Impact factor: 2.089

Review 10.  Genetic and epigenetic mechanisms of epilepsy: a review.

Authors:  Tian Chen; Mohan Giri; Zhenyi Xia; Yadu Nanda Subedi; Yan Li
Journal:  Neuropsychiatr Dis Treat       Date:  2017-07-13       Impact factor: 2.570

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  1 in total

1.  No association of GABRA1 rs2279020 and GABRA6 rs3219151 polymorphisms with risk of epilepsy and antiepileptic drug responsiveness in Asian and Arabic populations: Evidence from a meta-analysis with trial sequential analysis.

Authors:  Tiejun Zhang; Yi Yang; Xiutian Sima
Journal:  Front Neurol       Date:  2022-09-14       Impact factor: 4.086

  1 in total

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