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Article: Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating

TitleAssociation between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating
Authors
Issue Date2013
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
Citation
European Journal Of Human Genetics, 2013, v. 21 n. 1, p. 76-81 How to Cite?
AbstractThere is considerable evidence implicating the 15q13.3 region in neuropsychiatric disorders, with the α7 nicotinic receptor gene CHRNA7 the most plausible candidate. This region has multiple duplications and many copy number variants (CNVs). A common CNV involves a partial duplication of CHRNA7 (CHRFAM7A), which occurs in either orientation. We examined the distribution of these alternative genomic arrangements in a large cohort of psychiatric patients, their relatives and controls using the 2-bp deletion polymorphism as a marker for the orientation of CHRFAM7A. We investigated three common alleles for association with psychosis and with the P50 sensory gating deficit, which is strongly associated with psychosis and strongly linked to 15q13.3. We found significant within-family association with P50 (empirical P=0.004), which is robust to population stratification. Most of the effect came from the 2-bp deletion allele, which tags the variant of CHRFAM7A in the same orientation as CHRNA7. This allele is associated with the presence of the P50 sensory gating deficit (empirical P=0.0006). Tests comparing within-family and between-family components of association suggest considerable population stratification in the sample. We found no evidence for association with psychosis, but this may reflect lower power using this phenotype. Four out of six previous association studies found association of different psychiatric phenotypes with the same 2-bp deletion allele.European Journal of Human Genetics advance online publication, 16 May 2012; doi:10.1038/ejhg.2012.81.
Persistent Identifierhttp://hdl.handle.net/10722/161259
ISSN
2014 Impact Factor: 4.349
2014 SCImago Journal Rankings: 1.615
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorFlomen, RHen_US
dc.contributor.authorShaikh, Men_US
dc.contributor.authorWalshe, Men_US
dc.contributor.authorSchulze, Ken_US
dc.contributor.authorHall, MHen_US
dc.contributor.authorPicchioni, Men_US
dc.contributor.authorRijsdijk, Fen_US
dc.contributor.authorToulopoulou, Ten_US
dc.contributor.authorKravariti, Een_US
dc.contributor.authorMurray, RMen_US
dc.contributor.authorAsherson, Pen_US
dc.contributor.authorMakoff, AJen_US
dc.contributor.authorBramon, Een_US
dc.date.accessioned2012-08-23T06:11:33Z-
dc.date.available2012-08-23T06:11:33Z-
dc.date.issued2013en_US
dc.identifier.citationEuropean Journal Of Human Genetics, 2013, v. 21 n. 1, p. 76-81en_US
dc.identifier.issn1018-4813en_US
dc.identifier.urihttp://hdl.handle.net/10722/161259-
dc.description.abstractThere is considerable evidence implicating the 15q13.3 region in neuropsychiatric disorders, with the α7 nicotinic receptor gene CHRNA7 the most plausible candidate. This region has multiple duplications and many copy number variants (CNVs). A common CNV involves a partial duplication of CHRNA7 (CHRFAM7A), which occurs in either orientation. We examined the distribution of these alternative genomic arrangements in a large cohort of psychiatric patients, their relatives and controls using the 2-bp deletion polymorphism as a marker for the orientation of CHRFAM7A. We investigated three common alleles for association with psychosis and with the P50 sensory gating deficit, which is strongly associated with psychosis and strongly linked to 15q13.3. We found significant within-family association with P50 (empirical P=0.004), which is robust to population stratification. Most of the effect came from the 2-bp deletion allele, which tags the variant of CHRFAM7A in the same orientation as CHRNA7. This allele is associated with the presence of the P50 sensory gating deficit (empirical P=0.0006). Tests comparing within-family and between-family components of association suggest considerable population stratification in the sample. We found no evidence for association with psychosis, but this may reflect lower power using this phenotype. Four out of six previous association studies found association of different psychiatric phenotypes with the same 2-bp deletion allele.European Journal of Human Genetics advance online publication, 16 May 2012; doi:10.1038/ejhg.2012.81.en_US
dc.languageengen_US
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhgen_US
dc.relation.ispartofEuropean Journal of Human Geneticsen_US
dc.titleAssociation between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gatingen_US
dc.typeArticleen_US
dc.identifier.emailToulopoulou, T:timothea@hku.hken_US
dc.identifier.authorityToulopoulou, T=rp01542en_US
dc.description.naturelink_to_OA_fulltexten_US
dc.identifier.doi10.1038/ejhg.2012.81en_US
dc.identifier.pmid22588665-
dc.identifier.pmcidPMC3522190-
dc.identifier.scopuseid_2-s2.0-84871185843en_US
dc.identifier.hkuros223337-
dc.identifier.isiWOS:000312492500016-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridFlomen, RH=6603223003en_US
dc.identifier.scopusauthoridShaikh, M=24377053800en_US
dc.identifier.scopusauthoridWalshe, M=8855469300en_US
dc.identifier.scopusauthoridSchulze, K=7103137549en_US
dc.identifier.scopusauthoridHall, MH=14013171900en_US
dc.identifier.scopusauthoridPicchioni, M=6507443795en_US
dc.identifier.scopusauthoridRijsdijk, F=6701830835en_US
dc.identifier.scopusauthoridToulopoulou, T=8855468700en_US
dc.identifier.scopusauthoridKravariti, E=8855469000en_US
dc.identifier.scopusauthoridMurray, RM=46761365300en_US
dc.identifier.scopusauthoridAsherson, P=35402700900en_US
dc.identifier.scopusauthoridMakoff, AJ=7006063526en_US
dc.identifier.scopusauthoridBramon, E=8089378900en_US
dc.identifier.citeulike10677844-

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