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Article: Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese

TitleTwo-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese
Authors
Issue Date2012
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Citation
Human Molecular Genetics, 2012, v. 21 n. 5, p. 1184-1189 How to Cite?
AbstractIn 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. © The Author 2011. Published by Oxford University Press. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/152724
ISSN
2014 Impact Factor: 6.393
2014 SCImago Journal Rankings: 3.760
ISI Accession Number ID
Funding AgencyGrant Number
Research Grants Council of the Hong Kong Special Administrative Region, ChinaHKU7623/08M
HKU7747/07M
CUHK4466/06M
Funding Information:

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).

References

 

DC FieldValueLanguage
dc.contributor.authorGuo, Yen_HK
dc.contributor.authorBaum, LWen_HK
dc.contributor.authorSham, PCen_HK
dc.contributor.authorWong, Ven_HK
dc.contributor.authorNg, PWen_HK
dc.contributor.authorLui, CHTen_HK
dc.contributor.authorSin, NCen_HK
dc.contributor.authorTsoi, THen_HK
dc.contributor.authorTang, CSMen_HK
dc.contributor.authorKwan, JSHen_HK
dc.contributor.authorYip, BHKen_HK
dc.contributor.authorXiao, SMen_HK
dc.contributor.authorThomas, GNen_HK
dc.contributor.authorLau, YLen_HK
dc.contributor.authorYang, Wen_HK
dc.contributor.authorCherny, SSen_HK
dc.contributor.authorKwan, Pen_HK
dc.date.accessioned2012-07-16T09:47:19Z-
dc.date.available2012-07-16T09:47:19Z-
dc.date.issued2012en_HK
dc.identifier.citationHuman Molecular Genetics, 2012, v. 21 n. 5, p. 1184-1189en_HK
dc.identifier.issn0964-6906en_HK
dc.identifier.urihttp://hdl.handle.net/10722/152724-
dc.description.abstractIn 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. © The Author 2011. Published by Oxford University Press. All rights reserved.en_HK
dc.languageengen_US
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/en_HK
dc.relation.ispartofHuman Molecular Geneticsen_HK
dc.subject.meshAsian Continental Ancestry Group - genetics-
dc.subject.meshCytoskeletal Proteins - genetics-
dc.subject.meshEpilepsy - genetics-
dc.subject.meshGenetic Predisposition to Disease-
dc.subject.meshPolymorphism, Single Nucleotide-
dc.titleTwo-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chineseen_HK
dc.typeArticleen_HK
dc.identifier.emailSham, PC: pcsham@hku.hken_HK
dc.identifier.emailLau, YL: lauylung@hku.hken_HK
dc.identifier.emailYang, W: yangwl@hkucc.hku.hken_HK
dc.identifier.emailCherny, SS: cherny@hku.hken_HK
dc.identifier.authoritySham, PC=rp00459en_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.identifier.authorityYang, W=rp00524en_HK
dc.identifier.authorityCherny, SS=rp00232en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1093/hmg/ddr550en_HK
dc.identifier.pmid22116939-
dc.identifier.scopuseid_2-s2.0-84863012719en_HK
dc.identifier.hkuros200601en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-84863012719&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume21en_HK
dc.identifier.issue5en_HK
dc.identifier.spage1184en_HK
dc.identifier.epage1189en_HK
dc.identifier.eissn1460-2083-
dc.identifier.isiWOS:000300242000019-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridGuo, Y=55146070300en_HK
dc.identifier.scopusauthoridBaum, LW=7103310839en_HK
dc.identifier.scopusauthoridSham, PC=34573429300en_HK
dc.identifier.scopusauthoridWong, V=54982390400en_HK
dc.identifier.scopusauthoridNg, PW=7201376949en_HK
dc.identifier.scopusauthoridLui, CHT=36943011700en_HK
dc.identifier.scopusauthoridSin, NC=6602256513en_HK
dc.identifier.scopusauthoridTsoi, TH=7003314299en_HK
dc.identifier.scopusauthoridTang, CSM=35764635500en_HK
dc.identifier.scopusauthoridKwan, JSH=37063349600en_HK
dc.identifier.scopusauthoridYip, BHK=55268459600en_HK
dc.identifier.scopusauthoridXiao, SM=55179174600en_HK
dc.identifier.scopusauthoridThomas, GN=35465269900en_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK
dc.identifier.scopusauthoridYang, W=23101349500en_HK
dc.identifier.scopusauthoridCherny, SS=7004670001en_HK
dc.identifier.scopusauthoridKwan, P=7004369601en_HK

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