BDNF gene is a risk factor for schizophrenia in a Scottish population

• Published in: Molecular psychiatry Vol. 10; no. 2; pp. 208 - 212
• Main Authors: Neves-Pereira, M, Cheung, J K, Pasdar, A, Zhang, F, Breen, G, Yates, P, Sinclair, M, Crombie, C, Walker, N, St Clair, D M
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.02.2005; Nature Publishing Group
• Subjects: Adult; Adult and adolescent clinical studies; Behavioral Sciences; Biological and medical sciences; Biological Psychology; Bipolar disorder; Bipolar Disorder - genetics; Brain-derived neurotrophic factor; Brain-Derived Neurotrophic Factor - genetics; Diagnosis; European Continental Ancestry Group - genetics; Gene Frequency; Gene polymorphism; Genetic Predisposition to Disease; Genetics, Population; Haplotypes; Humans; Linkage disequilibrium; Linkage Disequilibrium - genetics; Medical sciences; Medicine; Medicine & Public Health; Mental disorders; Methionine; Methionine - genetics; Neurosciences; original-research-article; Pharmacotherapy; Polymorphism; Polymorphism, Genetic; Polymorphism, Single Nucleotide - genetics; Psychiatry; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Psychoses; Reference Values; Risk Factors; Schizoaffective disorder; Schizophrenia; Schizophrenia - genetics; Scotland; Single-nucleotide polymorphism; Valine; Valine - genetics; United Kingdom; Scotland; Great Britain; Europe; haplotype analysis; bipolar disorder; risk; genetics; schizophrenia; association study; Psychosis; Mood disorder; Human; Risk factor; Genetic linkage; Schizophrenia; Bipolar disorder; Brain derived neurotrophic factor; Haplotype; Polymorphism
• DOI: 10.1038/sj.mp.4001575
• ISSN: 1359-4184

Schizophrenia is a severe psychiatric disease with a strong genetic component. Brain-derived neurotrophic factor (BDNF) has been implicated in the pathogenesis of schizophrenia and bipolar (BP) disorders. The present study has examined two polymorphisms in linkage disequilibrium in the BDNF gene, which have been variously reported as associated with schizophrenia and BP. In our study, 321 probands with a primary diagnosis of schizophrenia or schizoaffective disorder, and 263 with a diagnosis of bipolar affective disorder, were examined together with 350 controls drawn from the same geographical region of Scotland. The val66met single-nucleotide polymorphism (SNP) showed significant ( P =0.005) association for valine (allele G) with schizophrenia but not bipolar disorder. Haplotype analysis of val/met SNP and a dinucleotide repeat polymorphism in the putative promoter region revealed highly significant ( P <1 × 10 −8 ) under-representation of the methionine or met-1 haplotype in the schizophrenic but not the BP population. We conclude that, although the val66met polymorphism has been reported to alter gene function, the risk may depend upon the haplotypic background on which the val/met variant is carried.