GABRG2 C588T gene polymorphisms might be a predictive genetic marker of febrile seizures and generalized recurrent seizures: a case-control study in a Romanian pediatric population

Butilă, Anamaria Todoran; Zazgyva, Ancuţa; Sin, Anca; Szabo, Elisabeta Racoş; Tilinca, Mariana Cornelia

doi:10.5114/aoms.2016.63739

Cited by 20 publications

(23 citation statements)

References 39 publications

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“…The yield of formal literature can disclose the widespread topographical assortment of the frequency of C558 T polymorphism of the GABRG2 gene between diverse ethnicities. Butila et al [21] showed a significant increase of the mutant TT genotype that reached up to 5.5 times more than CC and CT genotypes of Romanian patients with idiopathic generalised epilepsy (P = 0.0009). Moreover, T allele showed a significant pharmacoresistance to antiepileptic drugs (P = 0.001; OR = 5.29).…”

Section: Discussionmentioning

confidence: 93%

The genetic variant “C588T” of GABARG2 is linked to childhood idiopathic generalized epilepsy and resistance to antiepileptic drugs

Ella

Tawfik

Fotoh

et al. 2018

Seizure

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Section: Discussionmentioning

confidence: 93%

The genetic variant “C588T” of GABARG2 is linked to childhood idiopathic generalized epilepsy and resistance to antiepileptic drugs

Ella

Tawfik

Fotoh

et al. 2018

Seizure

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“…Forty-seven full-text studies were used for further evaluation. Ultimately, 8 eligible studies consisting of 5937 subjects (775 FS patients and 5162 controls) were included in this study [11][12][13][14][15][16][17][18]. The detailed information of all included studies are present in Table 1.…”

Section: Study Selectionmentioning

confidence: 99%

“…Nevertheless, the number of included articles was relatively small, so it may be underpowered to verify the association. Although several new studies have been published recently [11][12][13][14], some important factors, including the type of control, the Fig. 1 Flow chart of study selection.…”

Section: Introductionmentioning

confidence: 99%

Association between GABRG2 rs211037 polymorphism and febrile seizures: a meta-analysis

Yang

Chi

Wei

et al. 2021

Acta Epileptologica

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Background Emerging evidence has implied that the GABRG2 gene play a role in the mechanism of febrile seizure (FS), however, the relationship between GABRG2 rs211037 polymorphism and the risk of FS remains controversial. This meta-analysis was conducted to investigate the relationship of GABRG2 rs211037 polymorphism with the susceptibility to FS. Methods MEDLINE, Embase, Cochrane Library and CNKI databases were searched (until April 6, 2019) for eligible studies on the relationship between GABRG2 rs211037 polymorphism and FS. We calculated the odds ratios (ORs) by a fixed or random model with the STATA 15.0 software. Subgroup analyses for the ethnicity, the source of the control, and age and sex matching of controls were conducted. Results A total of 8 studies consisting of 775 FS patients and 5162 controls were included in this study. Based on the overall data, he GABRG2 rs211037 polymorphism was not significantly associated with the risk of FS (TT + CT vs CC: OR = 0.95, 95%CI 0.64–1.41, P = 0.80). Notably, the GABRG2 rs211037 variant was significantly associated with decreased risk of FS in Asian populations (TT vs CT + CC: OR = 0.63, 95%CI 0.45–0.88, P = 0.006), but increased risk in Caucasian populations (CT vs CC: OR = 1.56, 95%CI 1.14–2.15, P = 0.006). Significant associations were also detected when healthy controls out of the whole controls were employed for comparison (TT vs CT + CC: OR = 0.59, 95% CI 0.45–0.77, P < 0.001) and when data from studies with age- and sex-matched controls were used (TT + CT vs CC: OR = 0.60, 95% CI 0.43–0.86, P = 0.001). Conclusion The GABRG2 rs211037 polymorphism may decrease the risk of FS in Asian populations, while increasing the risk in Caucasian populations. Further well-designed studies with large sample sizes are essential to verify the conclusions in other ethnicities.

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“…It is estimated that more than half of all epilepsy cases are associated with genetic factors (Pal et al, 2010). Mutations in many genes have been reported to cause epilepsy (Helbig et al, 2008;Poduri and Lowenstein, 2011;Ponnala et al, 2012;Abou El Ella et al, 2018;Butilȃ et al, 2018), and epilepsies associated with different mutations exhibit substantial heterogeneity in disease course, clinical manifestations, and treatment response (Wang et al, 2017), presenting significant challenges for diagnosis and management.…”

Section: Introductionmentioning

confidence: 99%

The Association Between STX1B Polymorphisms and Treatment Response in Patients With Epilepsy

Wang

Zhou

et al. 2021

Front. Pharmacol.

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Background: Epilepsy is a debilitating brain disease with complex inheritance and frequent treatment resistance. However, the role of STX1B single nucleotide polymorphisms (SNPs) in epilepsy treatment remains unknown.Objective: This study aimed to explore the genetic association of STX1B SNPs with treatment response in patients with epilepsy in a Han Chinese population.Methods: We first examined the associations between STX1B SNPs and epilepsy in 1000 Han Chinese and the associations between STX1B SNPs and drug-resistant epilepsy in 450 subjects. Expression quantitative trait loci analysis was then conducted using 16 drug-resistant epileptic brain tissue samples and results from the BrainCloud database (http://eqtl.brainseq.org).Results: The allelic frequencies of rs140820592 were different between the epilepsy and control groups (p = 0.002) after Bonferroni correction. The rs140820592 was associated with significantly lower epilepsy risk among 1,000 subjects in the dominant model after adjusting for gender and age and Bonferroni correction (OR = 0.542, 95%CI = 0.358–0.819, p = 0.004). The rs140820592 also conferred significantly lower risk of drug-resistant epilepsy among 450 subjects using the same dominant model after adjusting for gender and age and Bonferroni correction (OR = 0.260, 95%CI = 0.103–0.653, p = 0.004). Expression quantitative trait loci analysis revealed that rs140820592 was associated with STX1B expression level in drug-resistant epileptic brain tissues (p = 0.012), and this result was further verified in the BrainCloud database (http://eqtl.brainseq.org) (p = 2.3214 × 10–5).Conclusion: The STX1B rs140820592 may influence the risks of epilepsy and drug-resistant epilepsy by regulating STX1B expression in brain tissues.

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GABRG2 C588T gene polymorphisms might be a predictive genetic marker of febrile seizures and generalized recurrent seizures: a case-control study in a Romanian pediatric population

Cited by 20 publications

References 39 publications

The genetic variant “C588T” of GABARG2 is linked to childhood idiopathic generalized epilepsy and resistance to antiepileptic drugs

The genetic variant “C588T” of GABARG2 is linked to childhood idiopathic generalized epilepsy and resistance to antiepileptic drugs

Association between GABRG2 rs211037 polymorphism and febrile seizures: a meta-analysis

The Association Between STX1B Polymorphisms and Treatment Response in Patients With Epilepsy

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