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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
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TitleAssociation between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating
 
AuthorsFlomen, RH1 3
Shaikh, M1
Walshe, M1
Schulze, K1
Hall, MH2
Picchioni, M1 1
Rijsdijk, F1
Toulopoulou, T1
Kravariti, E1
Murray, RM1
Asherson, P1
Makoff, AJ1
Bramon, E1
 
Issue Date2013
 
PublisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
 
CitationEuropean Journal Of Human Genetics, 2013, v. 21 n. 1, p. 76-81 [How to Cite?]
DOI: http://dx.doi.org/10.1038/ejhg.2012.81
 
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.
 
ISSN1018-4813
2012 Impact Factor: 4.319
2012 SCImago Journal Rankings: 1.696
 
DOIhttp://dx.doi.org/10.1038/ejhg.2012.81
 
DC FieldValue
dc.contributor.authorFlomen, RH
 
dc.contributor.authorShaikh, M
 
dc.contributor.authorWalshe, M
 
dc.contributor.authorSchulze, K
 
dc.contributor.authorHall, MH
 
dc.contributor.authorPicchioni, M
 
dc.contributor.authorRijsdijk, F
 
dc.contributor.authorToulopoulou, T
 
dc.contributor.authorKravariti, E
 
dc.contributor.authorMurray, RM
 
dc.contributor.authorAsherson, P
 
dc.contributor.authorMakoff, AJ
 
dc.contributor.authorBramon, E
 
dc.date.accessioned2012-08-23T06:11:33Z
 
dc.date.available2012-08-23T06:11:33Z
 
dc.date.issued2013
 
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.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationEuropean Journal Of Human Genetics, 2013, v. 21 n. 1, p. 76-81 [How to Cite?]
DOI: http://dx.doi.org/10.1038/ejhg.2012.81
 
dc.identifier.citeulike10677844
 
dc.identifier.doihttp://dx.doi.org/10.1038/ejhg.2012.81
 
dc.identifier.hkuros223337
 
dc.identifier.issn1018-4813
2012 Impact Factor: 4.319
2012 SCImago Journal Rankings: 1.696
 
dc.identifier.scopuseid_2-s2.0-84871185843
 
dc.identifier.urihttp://hdl.handle.net/10722/161259
 
dc.languageeng
 
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
 
dc.publisher.placeUnited Kingdom
 
dc.relation.ispartofEuropean Journal of Human Genetics
 
dc.titleAssociation between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating
 
dc.typeArticle
 
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<contributor.author>Schulze, K</contributor.author>
<contributor.author>Hall, MH</contributor.author>
<contributor.author>Picchioni, M</contributor.author>
<contributor.author>Rijsdijk, F</contributor.author>
<contributor.author>Toulopoulou, T</contributor.author>
<contributor.author>Kravariti, E</contributor.author>
<contributor.author>Murray, RM</contributor.author>
<contributor.author>Asherson, P</contributor.author>
<contributor.author>Makoff, AJ</contributor.author>
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Author Affiliations
  1. King's College London
  2. McLean Hospital
  3. Guy's Hospital