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

2021 ◽  
Vol 12 ◽  
Author(s):  
Shitao Wang ◽  
Liang Zhou ◽  
Chenglu He ◽  
Dan Wang ◽  
Xuemei Cai ◽  
...  
Keyword(s):  
Quantitative Trait Loci ◽  
Treatment Response ◽  
Quantitative Trait ◽  
Expression Quantitative Trait Loci ◽  
Drug Resistant ◽  
Dominant Model ◽  
Bonferroni Correction ◽  
Gender And Age ◽  
Drug Resistant Epilepsy ◽  
Patients With Epilepsy

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.

scholarly journals Effect and Safety of Shihogyejitang for Drug Resistant Childhood Epilepsy

2016 ◽  
Vol 2016 ◽  
pp. 1-9 ◽  
Author(s):  
Jinsoo Lee ◽  
Kwanghyun Son ◽  
Gwiseo Hwang ◽  
Moonju Kim
Keyword(s):  
Adverse Events ◽  
Antiepileptic Drugs ◽  
Retention Rate ◽  
Seizure Type ◽  
Drug Resistant ◽  
Exact Test ◽  
Alternative Treatment Option ◽  
Drug Resistant Epilepsy ◽  
Intent To Treat ◽  
Patients With Epilepsy

Objective. Herbal medicine has been widely used to treat drug resistant epilepsy. Shihogyejitang (SGT) has been commonly used to treat epilepsy. We investigated the effect and safety of SGT in children with drug resistant epilepsy.Design. We reviewed medical records of 54 patients with epilepsy, who failed to respond to at least two antiepileptic drugs and have been treated with SGT between April 2006 and June 2014 at the Department of Pediatric Neurology, I-Tomato Hospital, Korea. Effect was measured by the response rate, seizure-free rate, and retention rate at six months. We also checked adverse events, change in antiepileptic drugs use, and the variables related to the outcome.Results. Intent-to-treat analysis showed that, after six months, 44.4% showed a >50% seizure reduction, 24.1% including seizure-free, respectively, and 53.7% remained on SGT. Two adverse events were reported, mild skin rash and fever. Focal seizure type presented significantly more positive responses when compared with other seizure types at six months (p=0.0284, Fisher’s exact test).Conclusion. SGT is an effective treatment with excellent tolerability for drug resistant epilepsy patients. Our data provide evidence that SGT may be used as alternative treatment option when antiepileptic drug does not work in epilepsy children.

A functional strategy to characterize expression Quantitative Trait Loci

2017 ◽  
Vol 136 (11-12) ◽  
pp. 1477-1487 ◽  
Author(s):  
Elena Grassi ◽  
Elisa Mariella ◽  
Mattia Forneris ◽  
Federico Marotta ◽  
Marika Catapano ◽  
...  
Keyword(s):  
Quantitative Trait Loci ◽  
Quantitative Trait ◽  
Expression Quantitative Trait Loci ◽  
Functional Strategy ◽  
Trait Loci

scholarly journals Delineamento de experimentos em genética genômica

2007 ◽  
Vol 36 (suppl) ◽  
pp. 211-218 ◽  
Author(s):  
Guilherme Jordão de Magalhães Rosa
Keyword(s):  
Quantitative Trait Loci ◽  
Quantitative Trait ◽  
Expression Quantitative Trait Loci ◽  
Trait Loci

Genética genômica é um termo utilizado para representar o estudo de processos genéticos controladores de caracteres fenotípicos de herança complexa, a partir da análise conjunta de informação relativa a fenótipos, estruturas de parentesco, marcadores moleculares e expressão gênica. Estudos de genética genômica são utilizados, por exemplo, para a estimação da herdabilidade de níveis de transcrição, para o mapeamento de locos controladores da expressao gênica (eQTL, do inglês expression Quantitative Trait Loci), e para o estudo de redes regulatórias. Genética genômica geralmente envolve experimentos com microarrays, os quais são ainda bastante caros e trabalhosos, limitando o tamanho amostral e conseqüentemente o poder estatístico de tais estudos. Desta maneira, é essencial que tais experimentos sejam otimizados do ponto de vista do delineamento, a partir de criteriosa escolha das amostras (indivíduos) a serem utilizadas, e do controle rigoroso dos vários fatores que podem afetar as variáveis-resposta de interesse. Outro ponto fundamental na condução de tais experimentos refere-se à marcação das amostras de mRNA com os fluoróforos e ao pareamento das mesmas em cada lâmina de microarray, os quais devem ser cuidadosamente planejados para que não haja confundimento entre estes efeitos e os fatores biológicos de interesse. Nesta apresentação serão discutidas algumas estratégias para o planejamento de estudos de genética genômica, incluindo a seleção de indivíduos objetivando-se a maximização da dissimilaridade genética ou do número de eventos de recombinação, bem como a condução eficiente dos ensaios com microarrays para diferentes objetivos experimentais.

scholarly journals Expression Quantitative Trait Loci for Extreme Host Response to Influenza A in Pre-Collaborative Cross Mice

2012 ◽  
Vol 2 (2) ◽  
pp. 213-221 ◽  
Author(s):  
Daniel Bottomly ◽  
Martin T. Ferris ◽  
Lauri D. Aicher ◽  
Elizabeth Rosenzweig ◽  
Alan Whitmore ◽  
...  
Keyword(s):  
Quantitative Trait Loci ◽  
Quantitative Trait ◽  
Host Response ◽  
Influenza A ◽  
Collaborative Cross ◽  
Expression Quantitative Trait Loci ◽  
Trait Loci
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