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Article: Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese
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TitleTwo-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese
 
AuthorsGuo, Y3
Baum, LW4
Sham, PC3
Wong, V3
Ng, PW6
Lui, CHT2
Sin, NC1
Tsoi, TH5
Tang, CSM3
Kwan, JSH3
Yip, BHK3
Xiao, SM3
Thomas, GN7
Lau, YL3
Yang, W3
Cherny, SS3
Kwan, P4
 
Issue Date2012
 
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
 
CitationHuman Molecular Genetics, 2012, v. 21 n. 5, p. 1184-1189 [How to Cite?]
DOI: http://dx.doi.org/10.1093/hmg/ddr550
 
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.
 
ISSN0964-6906
2012 Impact Factor: 7.692
2012 SCImago Journal Rankings: 4.103
 
DOIhttp://dx.doi.org/10.1093/hmg/ddr550
 
ISI Accession Number IDWOS:000300242000019
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).

 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorGuo, Y
 
dc.contributor.authorBaum, LW
 
dc.contributor.authorSham, PC
 
dc.contributor.authorWong, V
 
dc.contributor.authorNg, PW
 
dc.contributor.authorLui, CHT
 
dc.contributor.authorSin, NC
 
dc.contributor.authorTsoi, TH
 
dc.contributor.authorTang, CSM
 
dc.contributor.authorKwan, JSH
 
dc.contributor.authorYip, BHK
 
dc.contributor.authorXiao, SM
 
dc.contributor.authorThomas, GN
 
dc.contributor.authorLau, YL
 
dc.contributor.authorYang, W
 
dc.contributor.authorCherny, SS
 
dc.contributor.authorKwan, P
 
dc.date.accessioned2012-07-16T09:47:19Z
 
dc.date.available2012-07-16T09:47:19Z
 
dc.date.issued2012
 
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.
 
dc.description.naturelink_to_subscribed_fulltext
 
dc.identifier.citationHuman Molecular Genetics, 2012, v. 21 n. 5, p. 1184-1189 [How to Cite?]
DOI: http://dx.doi.org/10.1093/hmg/ddr550
 
dc.identifier.doihttp://dx.doi.org/10.1093/hmg/ddr550
 
dc.identifier.eissn1460-2083
 
dc.identifier.epage1189
 
dc.identifier.hkuros200601
 
dc.identifier.isiWOS:000300242000019
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).

 
dc.identifier.issn0964-6906
2012 Impact Factor: 7.692
2012 SCImago Journal Rankings: 4.103
 
dc.identifier.issue5
 
dc.identifier.pmid22116939
 
dc.identifier.scopuseid_2-s2.0-84863012719
 
dc.identifier.spage1184
 
dc.identifier.urihttp://hdl.handle.net/10722/152724
 
dc.identifier.volume21
 
dc.languageeng
 
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
 
dc.publisher.placeUnited Kingdom
 
dc.relation.ispartofHuman Molecular Genetics
 
dc.relation.referencesReferences in Scopus
 
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 Chinese
 
dc.typeArticle
 
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Author Affiliations
  1. Hong Kong Hospital Authority
  2. Tseung Kwan O Hospital
  3. The University of Hong Kong
  4. Prince of Wales Hospital Hong Kong
  5. Pamela Youde Nethersole Eastern Hospital
  6. United Christian Hospital Hong Kong
  7. University of Birmingham