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
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
2011 Impact Factor: 4.4
2011 SCImago Journal Rankings: 0.459
DOIhttp://dx.doi.org/10.1038/ejhg.2012.81
DC Field
Value
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.issn1018-4813
2011 Impact Factor: 4.4
2011 SCImago Journal Rankings: 0.459
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
Author Affiliations
  1. King's College London
  2. McLean Hospital
  3. Guy's Hospital