Genome-Wide Meta-Analysis Identifies Two Novel Risk Loci for Epilepsy

	Genome-Wide Meta-Analysis Identifies Two Novel Risk Loci for Epilepsy
	Song, M; Liu, JW; Yang, YF; Lv, LX; Li, WQ; Luo, XJ
	2021
发表期刊	FRONTIERS IN NEUROSCIENCE
卷号	15
摘要	Epilepsy (affects about 70 million people worldwide) is one of the most prevalent brain disorders and imposes a huge economic burden on society. Epilepsy has a strong genetic component. In this study, we perform the largest genome-wide meta-analysis of epilepsy (N = 8,00,869 subjects) by integrating four large-scale genome-wide association studies (GWASs) of epilepsy. We identified three genome-wide significant (GWS) (p < 5 x 10(-8)) risk loci for epilepsy. The risk loci on 7q21.11 [lead single nucleotide polymorphism (SNP) rs11978015, p = 9.26 x 10(-9)] and 8p23.1 (lead SNP rs28634186, p = 4.39 x 10(-8)) are newly identified in the present study. Of note, rs11978015 resides in upstream of GRM3, which encodes glutamate metabotropic receptor 3. GRM3 has pivotal roles in neurotransmission and is involved in most aspects of normal brain function. In addition, we also identified three genes (TTC21B, RP11-375N15.2, and TNKS) whose cis-regulated expression level are associated with epilepsy, indicating that risk variants may confer epilepsy risk through regulating the expression of these genes. Our study not only provides new insights into genetic architecture of epilepsy but also prioritizes potential molecular targets (including GRM3 and TTC21B) for development of new drugs and therapeutics for epilepsy.
收录类别	sci
语种	英语
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/13322
专题	科研部门_神经系统疾病（罗雄剑）
推荐引用方式 GB/T 7714	Song, M,Liu, JW,Yang, YF,et al. Genome-Wide Meta-Analysis Identifies Two Novel Risk Loci for Epilepsy[J]. FRONTIERS IN NEUROSCIENCE,2021,15.
APA	Song, M,Liu, JW,Yang, YF,Lv, LX,Li, WQ,&Luo, XJ.(2021).Genome-Wide Meta-Analysis Identifies Two Novel Risk Loci for Epilepsy.FRONTIERS IN NEUROSCIENCE,15.
MLA	Song, M,et al."Genome-Wide Meta-Analysis Identifies Two Novel Risk Loci for Epilepsy".FRONTIERS IN NEUROSCIENCE 15(2021).

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