Analysis of copy number variations at 15 schizophrenia-associated loci
| العنوان: | Analysis of copy number variations at 15 schizophrenia-associated loci |
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| المؤلفون: | Jennifer L. Moran, Michael Conlon O'Donovan, Michael John Owen, Stephen A. McCarroll, Sophie E. Legge, Alexander Richards, Gerwyn Mahoney-Davies, Lyudmila Georgieva, Anthony Roger Isles, James T.R. Walters, George Kirov, Elliott Rees, Kimberley D. Chambert |
| المصدر: | The British Journal of Psychiatry The British Journal of Psychiatry; Vol 204 |
| بيانات النشر: | Cambridge University Press, 2014. |
| سنة النشر: | 2014 |
| مصطلحات موضوعية: | 0301 basic medicine, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Schizophrenia (object-oriented programming), Case-control study, Biology, medicine.disease, Developmental psychology, 03 medical and health sciences, Psychiatry and Mental health, 030104 developmental biology, 0302 clinical medicine, Angelman syndrome, Papers, mental disorders, medicine, RC0321, Copy-number variation, DNA microarray, Genomic imprinting, Genotyping Techniques, 030217 neurology & neurosurgery |
| الوصف: | BackgroundA number of copy number variants (CNVs) have been suggested as susceptibility factors for schizophrenia. For some of these the data remain equivocal, and the frequency in individuals with schizophrenia is uncertain.AimsTo determine the contribution of CNVs at 15 schizophrenia-associated loci (a) using a large new data-set of patients with schizophrenia (n= 6882) and controls (n= 6316), and (b) combining our results with those from previous studies.MethodWe used Illumina microarrays to analyse our data. Analyses were restricted to 520 766 probes common to all arrays used in the different data-sets.ResultsWe found higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs. Six were nominally significantly associated (PNRXN1, 15q11.2 and 22q11.2 and duplications at 16p11.2 and the Angelman/Prader–Willi Syndrome (AS/PWS) region. All eight AS/PWS duplications in patients were of maternal origin. When combined with published data, 11 of the 15 loci showed highly significant evidence for association with schizophrenia (P−4).ConclusionsWe strengthen the support for the majority of the previously implicated CNVs in schizophrenia. About 2.5% of patients with schizophrenia and 0.9% of controls carry a large, detectable CNV at one of these loci. Routine CNV screening may be clinically appropriate given the high rate of known deleterious mutations in the disorder and the comorbidity associated with these heritable mutations. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 0007-1250 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22bf236268b10b2e294fc60e37e7c89b https://orca.cardiff.ac.uk/id/eprint/57364/1/BJP-2014-Rees-108-14.pdf |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....22bf236268b10b2e294fc60e37e7c89b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00071250 |
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