Journal article
Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese
Y Guo, LW Baum, PC Sham, V Wong, PW Ng, CHT Lui, NC Sin, TH Tsoi, CSM Tang, JSH Kwan, BHK Yip, SM Xiao, GN Thomas, YL Lau, W Yang, SS Cherny, P Kwan
Human Molecular Genetics | Published : 2012
DOI: 10.1093/hmg/ddr550
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..
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Awarded by Research Grants Council, University Grants Committee
Funding Acknowledgements
The study was supported by the Research Grants Council of the Hong Kong Special Administrative Region, China (project numbers HKU7623/08M, HKU7747/07M and CUHK4466/06M).