Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese
Publication in refereed journal

香港中文大學研究人員

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摘要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.
著者Guo YL, Baum LW, Sham PC, Wong V, Ng PW, Lui CHT, Sin NC, Tsoi TH, Tang CSM, Kwan JSH, Yip BHK, Xiao SM, Thomas GN, Lau YL, Yang WL, Cherny SS, Kwan P
期刊名稱Human Molecular Genetics
出版年份2012
月份3
日期1
卷號21
期次5
出版社OXFORD UNIV PRESS
頁次1184 - 1189
國際標準期刊號0964-6906
電子國際標準期刊號1460-2083
語言英式英語
Web of Science 學科類別Biochemistry & Molecular Biology; BIOCHEMISTRY & MOLECULAR BIOLOGY; Genetics & Heredity; GENETICS & HEREDITY

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