Fine mapping on chromosome 13q32-34 and brain expression analysis implicates MYO16 in schizophrenia

Show simple item record Rodriguez-Murillo, Laura Xu, Bin Roos, J.L. (Johannes Louw) Abecasis, G.R. Gogos, Joseph A. Karayiorgou, Maria 2015-09-15T05:27:37Z 2015-09-15T05:27:37Z 2014-03
dc.description.abstract We previously reported linkage of schizophrenia and schizoaffective disorder to 13q32–34 in the European descent Afrikaner population from South Africa. The nature of genetic variation underlying linkage peaks in psychiatric disorders remains largely unknown and both rare and common variants may be contributing. Here, we examine the contribution of common variants located under the 13q32–34 linkage region. We used densely spaced SNPs to fine map the linkage peak region using both a discovery sample of 415 families and a meta-analysis incorporating two additional replication family samples. In a second phase of the study, we use one family-based data set with 237 families and independent case–control data sets for fine mapping of the common variant association signal using HapMap SNPs. We report a significant association with a genetic variant (rs9583277) within the gene encoding for the myosin heavy-chain Myr 8 (MYO16), which has been implicated in neuronal phosphoinositide 3-kinase signaling. Follow-up analysis of HapMap variation within MYO16 in a second set of Afrikaner families and additional case–control data sets of European descent highlighted a region across introns 2–6 as the most likely region to harbor common MYO16 risk variants. Expression analysis revealed a significant increase in the level of MYO16 expression in the brains of schizophrenia patients. Our results suggest that common variation within MYO16 may contribute to the genetic liability to schizophrenia. en_ZA
dc.description.librarian hb2015 en_ZA
dc.description.sponsorship National Institute of Mental Health (NIMH) Grant MH061399, the Lieber Center for Schizophrenia Research at Columbia University, Gray Matters Fellowship and NARSAD Young Investigator Award. en_ZA
dc.description.uri en_ZA
dc.identifier.citation Rodriguez-Murillo, L, Xu, B, Roos, JL, Abecasis, GR, Gogos, JA & Karayiorgou, M 2014, 'Fine mapping on chromosome 13q32-34 and brain expression analysis implicates MYO16 in schizophrenia', Neuropsychopharmacology, vol. 39, no. 4, pp. 934-943. en_ZA
dc.identifier.issn 0893-133X (print)
dc.identifier.issn 1740-634X (online)
dc.identifier.other 10.1038/npp.2013.293
dc.language.iso en en_ZA
dc.publisher Nature Publishing Group en_ZA
dc.rights © 2014 American College of Neuropsychopharmacology. All rights reserved. en_ZA
dc.subject Schizophrenia en_ZA
dc.subject Association en_ZA
dc.subject MYO16 en_ZA
dc.subject Linkage en_ZA
dc.subject CNVs en_ZA
dc.subject Expression en_ZA
dc.title Fine mapping on chromosome 13q32-34 and brain expression analysis implicates MYO16 in schizophrenia en_ZA
dc.type Postprint Article en_ZA

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