Dataset Information

Integrative Analyses Identify KCNJ15 as a Candidate Gene in Patients with Epilepsy.

ABSTRACT:

Introduction

Although there is accumulating evidence that genetic factors play a vital role in the pathogenesis of epilepsy, few epilepsy-associated genes have been identified. Additionally, the role of KCNJ15 in epilepsy has not been evaluated so far.

Methods

Here, we performed differentially expressed gene analysis, expression quantitative trait loci analysis, gene co-expression analysis, and protein-protein interaction analysis to evaluate the role of KCNJ15 in epilepsy.

Results

Analysis of gene expression and expression quantitative trait loci data revealed that KCNJ15 was significantly downregulated in patients with epilepsy (adjusted P = 0.0146 and log₂ Fold change = - 1.0025), and an epilepsy-associated polymorphism (rs2833098) was linked to altered KCNJ15 expression level in human temporal lobe brain tissue (P = 0.0036). Gene co-expression analysis revealed that KCNJ15 was co-expressed with genes that have been reported to be associated with epilepsy in human brain tissue. Furthermore, protein-protein interaction analysis revealed strong supportive evidence for the role of KCNJ15 in epilepsy.

Conclusion

Our results show that KCNJ15 may be a candidate target for epilepsy. Functional analysis of KCNJ15 may provide novel insights for epilepsy treatment.

SUBMITTER: Wang S

PROVIDER: S-EPMC9588107 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

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Publications

Integrative Analyses Identify KCNJ15 as a Candidate Gene in Patients with Epilepsy.

Wang Shitao S Li Zongyou Z Ding Xiangqian X Zhao Zongyou Z Zhang Mengen M Xu Hui H Lu Jinghong J Dai Lili L

Neurology and therapy 20220928 4

<h4>Introduction</h4>Although there is accumulating evidence that genetic factors play a vital role in the pathogenesis of epilepsy, few epilepsy-associated genes have been identified. Additionally, the role of KCNJ15 in epilepsy has not been evaluated so far.<h4>Methods</h4>Here, we performed differentially expressed gene analysis, expression quantitative trait loci analysis, gene co-expression analysis, and protein-protein interaction analysis to evaluate the role of KCNJ15 in epilepsy.<h4>Res ...[more]

PMID: 36168094

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Project description:Cystinosis is a rare, devastating hereditary disease secondary to recessive CTNS gene mutations. The most commonly used diagnostic method is confirmation of an elevated leukocyte cystine level; however, this method is expensive and difficult to perform. This study aimed to identify candidate biomarkers for the diagnosis and follow-up of cystinosis based on multiomics studies. The study included three groups: newly-diagnosed cystinosis patients (patient group, n = 14); cystinosis patients under treatment (treatment group, n = 19); and healthy controls (control group, n = 30). Plasma metabolomics analysis identified 10 metabolites as candidate biomarkers that differed between the patient and control groups [L-serine, taurine, lyxose, 4-trimethylammoniobutanoic acid, orotic acid, glutathione, PE(O-18:1(9Z)/0:0), 2-hydroxyphenyl acetic acid, acetyl-N-formil-5-metoxikinuramine, 3-indoxyl sulphate]. As compared to the healthy control group, in the treatment group, hypotaurine, phosphatidylethanolamine, N-acetyl-d-mannosamine, 3-indolacetic acid, p-cresol, phenylethylamine, 5-aminovaleric acid, glycine, creatinine, and saccharic acid levels were significantly higher, and the metabolites quinic acid, capric acid, lenticin, xanthotoxin, glucose-6-phosphate, taurine, uric acid, glyceric acid, alpha-D-glucosamine phosphate, and serine levels were significantly lower. Urinary metabolomic analysis clearly differentiated the patient group from the control group by means of higher allo-inositol, talose, glucose, 2-hydroxybutiric acid, cystine, pyruvic acid, valine, and phenylalanine levels, and lower metabolite (N-acetyl-L-glutamic acid, 3-aminopropionitrile, ribitol, hydroquinone, glucuronic acid, 3-phosphoglycerate, xanthine, creatinine, and 5-aminovaleric acid) levels in the patient group. Urine metabolites were also found to be significantly different in the treatment group than in the control group. Thus, this study identified candidate biomarkers that could be used for the diagnosis and follow-up of cystinosis.

Dataset Information

Integrative Analyses Identify KCNJ15 as a Candidate Gene in Patients with Epilepsy.

Introduction

Methods

Results

Conclusion

Publications

Integrative Analyses Identify KCNJ15 as a Candidate Gene in Patients with Epilepsy.

Similar Datasets

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