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Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population

Authors :
Xiu-Yu Shi
Geng Wang
Ting Li
Zhixiu Li
Paul Leo
Zhisheng Liu
Gefei Wu
Hongmin Zhu
Yuqin Zhang
Dong Li
Li Gao
Liu Yang
Wei Wang
Jianxiang Liao
Jiwen Wang
Shuizhen Zhou
Hua Wang
Xiaojing Li
Jingyun Gao
Li Zhang
Xiaomei Shu
Dan Li
Yan Li
Chunhong Chen
Xiuju Zhang
Gabriel Cuellar Partida
Mischa Lundberg
David Reutens
Perry Bartlett
Matthew A Brown
Li-Ping Zou
Huji Xu
Source :
EBioMedicine, Vol 57, Iss , Pp 102840- (2020)
Publication Year :
2020
Publisher :
Elsevier, 2020.

Abstract

Background: Benign Childhood Epilepsy with Centro-temporal Spikes (BECTS) is the most common form of idiopathic epilepsy in children, accounting for up to 23% of pediatric epilepsy. The pathogenesis of BECTS is unknown, but it is thought that genetic factors play a role in susceptibility to the disease. Methods: To investigate the role of common genetic variants in BECTS pathogenesis, a 2-stage genome-wide association study (GWAS) was performed in 1,800 Chinese Han BECTS patients, and 7,090 healthy controls. Genetic findings were used in a Mendelian Randomization study in the UK Biobank dataset to investigate the potential role of smoking in BECTS. Findings: Definitive evidence of a role for common-variant heritability was demonstrated, with heritability of BECTS of >10% observed even with conservative disease prevalence assumptions. Although no individual locus achieved genome-wide significance, twelve loci achieved suggestive evidence of association (5 × 10-8

Details

Language :
English
ISSN :
23523964
Volume :
57
Issue :
102840-
Database :
Directory of Open Access Journals
Journal :
EBioMedicine
Publication Type :
Academic Journal
Accession number :
edsdoj.95d99543de3948758125fdffac1b9ac1
Document Type :
article
Full Text :
https://doi.org/10.1016/j.ebiom.2020.102840