dc.contributor.author | Stokowy, Tomasz | en_US |
dc.contributor.author | Polushina, Tatiana | en_US |
dc.contributor.author | Sønderby, Ida Elken | en_US |
dc.contributor.author | Karlsson, Robert | en_US |
dc.contributor.author | Giddaluru, Sudheer | en_US |
dc.contributor.author | Le Hellard, Stephanie | en_US |
dc.contributor.author | Bergen, Sarah E | en_US |
dc.contributor.author | Sullivan, Patrick F | en_US |
dc.contributor.author | Andreassen, Ole Andreas | en_US |
dc.contributor.author | Djurovic, Srdjan | en_US |
dc.contributor.author | Hultman, Christina M. | en_US |
dc.contributor.author | Steen, Vidar Martin | en_US |
dc.date.accessioned | 2018-11-23T10:56:57Z | |
dc.date.available | 2018-11-23T10:56:57Z | |
dc.date.issued | 2018-05-02 | |
dc.Published | Stokowy T, Polushina T, Sønderby IE, Karlsson R, Giddaluru S, Le Hellard S, Bergen SE, Sullivan PF, Andreassen OA, Djurovic S, Hultman CM, Steen VM. Genetic variation in 117 myelination-related genes in schizophrenia: Replication of association to lipid biosynthesis genes. Scientific Reports. 2018;8:6915 | eng |
dc.identifier.issn | 2045-2322 | |
dc.identifier.uri | https://hdl.handle.net/1956/18727 | |
dc.description.abstract | Schizophrenia is a serious psychotic disorder with high heritability. Several common genetic variants, rare copy number variants and ultra-rare gene-disrupting mutations have been linked to disease susceptibility, but there is still a large gap between the estimated and explained heritability. Since several studies have indicated brain myelination abnormalities in schizophrenia, we aimed to examine whether variants in myelination-related genes could be associated with risk for schizophrenia. We established a set of 117 myelination genes by database searches and manual curation. We used a combination of GWAS (SCZ_N = 35,476; CTRL_N = 46,839), exome chip (SCZ_N = 269; CTRL_N = 336) and exome sequencing data (SCZ_N = 2,527; CTRL_N = 2,536) from schizophrenia cases and healthy controls to examine common and rare variants. We found that a subset of lipid-related genes was nominally associated with schizophrenia (p = 0.037), but this signal did not survive multiple testing correction (FWER = 0.16) and was mainly driven by the SREBF1 and SREBF2 genes that have already been linked to schizophrenia. Further analysis demonstrated that the lowest nominal p-values were p = 0.0018 for a single common variant (rs8539) and p = 0.012 for burden of rare variants (LRP1 gene), but none of them survived multiple testing correction. Our findings suggest that variation in myelination-related genes is not a major risk factor for schizophrenia. | en_US |
dc.language.iso | eng | eng |
dc.publisher | Nature Publishing Group | eng |
dc.rights | Attribution CC BY | eng |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0 | eng |
dc.title | Genetic variation in 117 myelination-related genes in schizophrenia: Replication of association to lipid biosynthesis genes | en_US |
dc.type | Peer reviewed | |
dc.type | Journal article | |
dc.date.updated | 2018-05-02T18:16:31Z | |
dc.description.version | publishedVersion | en_US |
dc.rights.holder | Copyright 2018 The Author(s) | |
dc.identifier.doi | https://doi.org/10.1038/s41598-018-25280-4 | |
dc.identifier.cristin | 1583010 | |
dc.source.journal | Scientific Reports | |