Association Analysis of γ2 Subunit of γ-Aminobutyric Acid Type A Receptor Polymorphisms with Febrile Seizures

Chou, I-Ching; Peng, Ching‐Tien; Huang, Chao; Tsai, Jeffrey J. P.; Tsai, Fuu‐Jen; Tsai, Chang‐Hai

doi:10.1203/01.pdr.0000069696.96041.34

Cited by 49 publications

(41 citation statements)

References 34 publications

(35 reference statements)

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“…For IL-Ra polymorphisms, PCR products were directly analyzed by electrophoresis. The IL-1b promoter, IL-1b exon 5, IL-6 promoter, IL-8, IL-10, and TNF-a polymorphisms were typed by the restriction fragment length polymorphism method (8,(16)(17)(18). Details of each analysis are listed in Table 1.…”

Section: Methodsmentioning

confidence: 99%

“…In our previous study, we used single nucleotide polymorphisms (SNPs) as a tool to search for genetic makers of FSs (7)(8)(9)(10)(11). SNPs are the most abundant types of DNA sequence variation in the human genome (12,13).…”

Section: Introductionmentioning

confidence: 99%

“…SNP markers may provide a new way to identify complex gene-associated diseases such as idiopathic generalized epilepsies. We have found that polymorphisms of the g-aminobutyric acid (GABA) type A receptor gene and the IL-1 RA gene might be associated with susceptibility to FSs (8,11). GABA terminals are abundant in areas containing thermosensitive neurons, and muscimol application causes reductions in both firing rate and thermo-sensitivity.…”

Section: Introductionmentioning

confidence: 99%

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Interleukin (IL)‐1β, IL‐1 receptor antagonist, IL‐6, IL‐8, IL‐10, and tumor necrosis factor α gene polymorphisms in patients with febrile seizures

Chou

Lin

Wang

et al. 2010

Clinical Laboratory Analysis

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Inflammation and genetics may play a role in the pathogenesis of febrile seizures (FSs). We aimed to test whether interleukin-1beta (IL-1beta), IL-1 receptor antagonist (IL-1 Ra), IL-6 promoter, IL-8, IL-10, or tumor necrosis factor (TNF) gene polymorphisms could be used as markers of susceptibility to FSs. An association study was performed among a cohort of 104 patients with FSs and 143 normal control subjects. There was no significant difference between patients and controls in the distribution of allele frequencies of the IL-1beta promoter, IL-1beta exon 5, IL-6 promoter, IL-8, IL-10, or TNF-alpha gene polymorphisms. In contrast, the IL-1 Ra-I homozygote was more frequent in patients with FSs than in healthy controls (93.2% vs. 83.92%, chi(2)=4.51, P=0.034). In addition, individuals homozygous for the IL-1 Ra-I genotype were more than twice as likely to develop FSs than individuals heterozygous for the IL-1 Ra-I/II genotype (OR, 2.63, 95% CI: 1.08-6.39; chi(2)=4.55, P=0.033). We conclude that the IL-1 Ra gene might be one of the useful markers for predicting susceptibility to FSs.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Interleukin (IL)‐1β, IL‐1 receptor antagonist, IL‐6, IL‐8, IL‐10, and tumor necrosis factor α gene polymorphisms in patients with febrile seizures

Chou

Lin

Wang

et al. 2010

Clinical Laboratory Analysis

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“…gene might be associated with susceptibility to FSs [49][50][51] . So these findings about the effects of IL-β on ion channels and transmitter receptors support the idea that IL-1β may affect the genesis of FSs; i.e., IL-1β enhances excitation and decreases inhibition, which in turn may cause an FS.…”

Section: +mentioning

confidence: 99%

IL-1β: an important cytokine associated with febrile seizures?

Liu

et al. 2012

Neurosci. Bull.

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Febrile seizures (FSs) are the most common convulsions in childhood. Studies have demonstrated a significant relationship between a history of prolonged FSs during early childhood and temporal sclerosis, which is responsible for intractable mesial temporal lobe epilepsy. It has been shown that interleukin-1β (IL-1β) is intrinsically involved in the febrile response in children and in the generation of FSs. We summarize the gene polymorphisms, changes of IL-1β levels and the putative role of IL-1β in the generation of FSs. IL-1β could play a role either in enhancing or in reducing neural excitability. If the enhancing and reducing effects are balanced, an FS does not occur. When the enhancing effect plays the leading role, an FS is generated. A mild imbalance can cause simple FSs while a severe imbalance can cause complex FSs and febrile status epilepticus. Therefore, anti-IL-1β therapy may help to treat FSs.

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“…A SNP within exon 5 of the GABRG2 gene (rs211037) has, on numerous occasions been associated with febrile seizures. Due to the symptomatic similarities between some epilepsies and migraine, this SNP was selected as a candidate to investigate for potential associations with migraine [7,8].…”

Section: Introductionmentioning

confidence: 99%

Investigation of the role of the GABRG2 gene variant in migraine

Chen

Murrell

Fowdar

et al. 2012

Journal of the Neurological Sciences

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Migraine is the most common neurological disorder worldwide affecting about 12% of the worldwide population. This disorder has been classed into two main types of migraine-with and without aura. While a number of factors can influence the onset of migraine, a major factor is that of genetics. The GABAA gene encodes for the GABAA receptor. Along with other receptors, the GABAA receptor is involved in the mediation of neuronal activities. In this study, a GABRG2 gene (GABAA receptor gamma-2-subunit) SNP (rs211037) was genotyped on a migraine case-control population of 546 (273 affected and an equal number of healthy) individuals. Using specifically designed primers, a high resolution melt (HRM) assay was carried out in the genotyping process. After genotyping, results were compared in the case and control populations. Analysis of results showed no significant differences in the allele frequencies between case and control populations. Similarly no differences were detected for subtypes or for a specific gender of migraine (p>0.05). Although this gene has been previously found to be involved in febrile seizures and there is some co-morbidity between epilepsy and migraine, we decided to investigate this marker for involvement in migraine. The results did not support a role for the tested GABRG2 variant in migraine.

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Association Analysis of γ2 Subunit of γ-Aminobutyric Acid Type A Receptor Polymorphisms with Febrile Seizures

Cited by 49 publications

References 34 publications

Interleukin (IL)‐1β, IL‐1 receptor antagonist, IL‐6, IL‐8, IL‐10, and tumor necrosis factor α gene polymorphisms in patients with febrile seizures

Interleukin (IL)‐1β, IL‐1 receptor antagonist, IL‐6, IL‐8, IL‐10, and tumor necrosis factor α gene polymorphisms in patients with febrile seizures

IL-1β: an important cytokine associated with febrile seizures?

Investigation of the role of the GABRG2 gene variant in migraine

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