Coelewij, L;
Curtis, D;
(2018)
Mini-review: Update on the genetics of schizophrenia.
Annals of Human Genetics
, 82
(5)
pp. 239-243.
10.1111/ahg.12259.
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Abstract
A number of important findings have recently emerged relevant to identifying genetic risk factors for schizophrenia. Findings using common variants point towards gene sets of interest and also demonstrate an overlap with other psychiatric and nonpsychiatric disorders. Imputation of variants of the gene for complement component 4 (C4) from GWAS data has shown that the predicted expression of the C4A product is associated with schizophrenia risk. Very rare variants disrupting SETD1A, RBM12 or NRXN1 have a large effect on risk. Other rare, damaging variants are enriched in genes that are loss of function intolerant and/or whose products localise to the synapse. These and particular copy number variants can result in increased risk of schizophrenia but also of other neurodevelopmental disorders. The findings for C4 and NRXN1 may be especially helpful for elucidating the biological mechanisms that can lead to disease.
| Type: | Article |
|---|---|
| Title: | Mini-review: Update on the genetics of schizophrenia |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1111/ahg.12259 |
| Publisher version: | https://doi.org/10.1111/ahg.12259 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, C4, CNV, genetics, NRXN, RBM12, schizophrenia, SETD1A, OF-FUNCTION VARIANTS, DEVELOPMENTAL DISORDERS, RISK, INDIVIDUALS, DISRUPTION, MUTATIONS, AUTISM, BURDEN, GENES |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Genetics, Evolution and Environment |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10064654 |
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