دورية أكاديمية

Identification of shared risk loci and pathways for bipolar disorder and schizophrenia

التفاصيل البيبلوغرافية
العنوان: Identification of shared risk loci and pathways for bipolar disorder and schizophrenia
المؤلفون: Forstner, AJ, Hecker, J, Hofmann, A, Maaser, A, Reinbold, CS, Mühleisen, TW, Leber, M, Strohmaier, J, Degenhardt, F, Treutlein, J, Mattheisen, M, Schumacher, J, Streit, F, Meier, S, Herms, S, Hoffmann, P, Lacour, A, Witt, SH, Reif, A, Müller-Myhsok, B, Lucae, S, Maier, W, Schwarz, M, Vedder, H, Kammerer-Ciernioch, J, Pfennig, A, Bauer, M, Hautzinger, M, Moebus, S, Schenk, LM, Fischer, SB, Sivalingam, S, Czerski, PM, Hauser, J, Lissowska, J, Szeszenia-Dabrowska, N, Brennan, P, McKay, JD, Wright, A, Mitchell, PB, Fullerton, JM, Schofield, PR, Montgomery, GW, Medland, SE, Gordon, SD, Martin, NG, Krasnov, V, Chuchalin, A, Babadjanova, G, Pantelejeva, G, Abramova, LI, Tiganov, AS, Polonikov, A, Khusnutdinova, E, Alda, M, Cruceanu, C, Rouleau, GA, Turecki, G, Laprise, C, Rivas, F, Mayoral, F, Kogevinas, M, Grigoroiu-Serbanescu, M, Becker, T, Schulze, TG, Rietschel, M, Cichon, S, Fier, H, Nöthen, MM, Schofield, Peter
المساهمون: Walss-Bass, Consuelo
المصدر: urn:ISSN:1932-6203 ; PLoS ONE, 12, 2, e0171595
بيانات النشر: Public Library of Science (PLoS)
سنة النشر: 2017
المجموعة: UNSW Sydney (The University of New South Wales): UNSWorks
مصطلحات موضوعية: Mental Health, Schizophrenia, Prevention, Serious Mental Illness, Brain Disorders, Human Genome, Biotechnology, Neurosciences, Genetics, Bipolar Disorder, 2 Aetiology, 2.1 Biological and endogenous factors, Genetic Linkage, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Risk, Signal Transduction
الوصف: Bipolar disorder (BD) is a highly heritable neuropsychiatric disease characterized by recurrent episodes of mania and depression. BD shows substantial clinical and genetic overlap with other psychiatric disorders, in particular schizophrenia (SCZ). The genes underlying this etiological overlap remain largely unknown. A recent SCZ genome wide association study (GWAS) by the Psychiatric Genomics Consortium identified 128 independent genome-wide significant single nucleotide polymorphisms (SNPs). The present study investigated whether these SCZ-associated SNPs also contribute to BD development through the performance of association testing in a large BD GWAS dataset (9747 patients, 14278 controls). After re-imputation and correction for sample overlap, 22 of 107 investigated SCZ SNPs showed nominal association with BD. The number of shared SCZ-BD SNPs was significantly higher than expected (p = 1.46x10-8 ). This provides further evidence that SCZassociated loci contribute to the development of BD. Two SNPs remained significant after Bonferroni correction. The most strongly associated SNP was located near TRANK1, which is a reported genome-wide significant risk gene for BD. Pathway analyses for all shared SCZ-BD SNPs revealed 25 nominally enriched gene-sets, which showed partial overlap in terms of the underlying genes. The enriched gene-sets included calcium- and glutamate signaling, neuropathic pain signaling in dorsal horn neurons, and calmodulin binding. The present data provide further insights into shared risk loci and disease-associated pathways for BD and SCZ. This may suggest new research directions for the treatment and prevention of these two major psychiatric disorders.
نوع الوثيقة: article in journal/newspaper
وصف الملف: application/pdf
اللغة: unknown
العلاقة: http://hdl.handle.net/1959.4/unsworks_44893Test; https://unsworks.unsw.edu.au/bitstreams/327bea5c-73ff-4f53-8891-6c6736bffd1b/downloadTest; https://doi.org/10.1371/journal.pone.0171595Test
DOI: 10.1371/journal.pone.0171595
الإتاحة: https://doi.org/10.1371/journal.pone.0171595Test
http://hdl.handle.net/1959.4/unsworks_44893Test
https://unsworks.unsw.edu.au/bitstreams/327bea5c-73ff-4f53-8891-6c6736bffd1b/downloadTest
حقوق: open access ; https://purl.org/coar/access_right/c_abf2Test ; CC BY ; https://creativecommons.org/licenses/by/4.0Test/ ; free_to_read
رقم الانضمام: edsbas.FAB2E5C0
قاعدة البيانات: BASE