title: Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese.
abstract: In the majority of patients, epilepsy is a complex disorder with multiple susceptibility genes interacting with environmental factors. However, we understand little about its genetic risks. Here, we report the first genome-wide association study (GWAS) to identify common susceptibility variants of epilepsy in Chinese. This two-stage GWAS included a total of 1087 patients and 3444 matched controls. In the combined analysis of the two stages, the strongest signals were observed with two highly correlated variants, rs2292096 [G] [P= 1.0 × 10(-8), odds ratio (OR) = 0.63] and rs6660197 [T] (P= 9.9 × 10(-7), OR = 0.69), with the former reaching genome-wide significance, on 1q32.1 in the CAMSAP1L1 gene, which encodes a cytoskeletal protein. We also refined a previously reported association with rs9390754 (P= 1.7 × 10(-5)) on 6q21 in the GRIK2 gene, which encodes a glutamate receptor, and identified several other loci in genes involved in neurotransmission or neuronal networking that warrant further investigation. Our results suggest that common genetic variants may increase the susceptibility to epilepsy in Chinese.
authors: Department of Psychiatry and The State Key Laboratory of Brain and Cognitive Sciences, The University of Hong Kong, Hong Kong, China.
authors: Youling
authors: Y
authors: Guo
authors: Larry W
authors: LW
authors: Baum
authors: Pak Chung
authors: PC
authors: Sham
authors: Virginia
authors: V
authors: Wong
authors: Ping Wing
authors: PW
authors: Ng
authors: Colin Hiu Tung
authors: CH
authors: Lui
authors: Ngai Chuen
authors: NC
authors: Sin
authors: Tak Hong
authors: TH
authors: Tsoi
authors: Clara S M
authors: CS
authors: Tang
authors: Johnny S H
authors: JS
authors: Kwan
authors: Benjamin H K
authors: BH
authors: Yip
authors: Su-Mei
authors: SM
authors: Xiao
authors: G Neil
authors: GN
authors: Thomas
authors: Yu Lung
authors: YL
authors: Lau
authors: Wanling
authors: W
authors: Yang
authors: Stacey S
authors: SS
authors: Cherny
authors: Patrick
authors: P
authors: Kwan
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D008869:Microtubule-Associated Proteins; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: C573192:CAMSAP2 protein, human; D003598:Cytoskeletal Proteins; D008869:Microtubule-Associated Proteins