Genomes and Genes
D H Blackwood
Affiliation: University of Edinburgh
- Schizophrenia and affective disorders--cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a familyD H Blackwood
University Department of Psychiatry, Royal Edinburgh Hospital and University of Edinburgh, Medical Genetics Section, Molecular Medicine Centre, Edinburgh, United Kingdom
Am J Hum Genet 69:428-33. 2001....
- Genetic studies of bipolar affective disorder in large familiesD H Blackwood
Department of Psychiatry, University of Edinburgh, UK
Br J Psychiatry Suppl 41:s134-6. 2001..Genetic factors are known to be important in the aetiology of bipolar disorder...
- Molecular genetics and the epidemiology of bipolar disorderD Blackwood
Edinburgh University Department of Psychiatry, UK
Ann Med 33:242-7. 2001....
- Altered cerebral perfusion measured by SPECT in relatives of patients with schizophrenia. Correlations with memory and P300D H Blackwood
Edinburgh University Department of Psychiatry, Royal Edinburgh Hospital
Br J Psychiatry 175:357-66. 1999..Biological variables identified as trait markers of risk could clarify the mode of inheritance, define clinical subgroups and provide clues about aetiology...
- Identification of polymorphisms within Disrupted in Schizophrenia 1 and Disrupted in Schizophrenia 2, and an investigation of their association with schizophrenia and bipolar affective disorderR S Devon
Medical Genetics Section, University of Edinburgh, Molecular Medicine Centre, Western General Hospital, UK
Psychiatr Genet 11:71-8. 2001....
- A long-range restriction map across 3 Mb of the chromosome 11 breakpoint region of a translocation linked to schizophrenia: localization of the breakpoint and the search for neighbouring genesJ K Millar
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
Psychiatr Genet 8:175-81. 1998..Novel transcribed sequences of unknown function clustered around putative CpG islands, located approximately 500 kb and 700 kb above the breakpoint, represent the only evidence to date for expressed genes within the mapped region...
- Markers close to the dopamine D5 receptor gene (DRD5) show significant association with schizophrenia but not bipolar disorderW J Muir
Department of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, Scotland, UK
Am J Med Genet 105:152-8. 2001..The data are consistent with an association between markers close to the D5 dopamine receptor and schizophrenia, but not bipolar disorder or unipolar major depression...
- Interacting haplotypes at the NPAS3 locus alter risk of schizophrenia and bipolar disorderB S Pickard
Department of Medical Genetics, Molecular Medicine Centre, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK
Mol Psychiatry 14:874-84. 2009....
- An allelic association study of two polymorphic markers in close proximity to a balanced translocation t(1:11) that co-segregates with mental illnessJ C Wilson-Annan
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
Psychiatr Genet 7:171-4. 1997....
- Detecting QTLs for uni- and bipolar disorder using a variance component methodP M Visscher
University of Edinburgh, Division of Biological Sciences, UK
Psychiatr Genet 9:75-84. 1999..9), were found in a region spanning about 10 cM, when the trait was defined as the occurrence of either uni- or bipolar disorder. The putative QTL explained about 25% of the total variation in the trait...
- Association analysis of the chromosome 4p15-p16 candidate region for bipolar disorder and schizophreniaA Christoforou
Medical Genetics Section, Molecular Medicine Centre, Western General Hospital, University of Edinburgh, Edinburgh, UK
Mol Psychiatry 12:1011-25. 2007..This study has identified significant associations between BP and SCZ within the chromosome 4p linkage region, resulting in candidate regions worthy of further investigation...
- Mapping studies on a pericentric inversion (18) (p11.31 q21.1) in a family with both schizophrenia and learning disabilityR M Hampson
Department of Psychiatry, Edinburgh University, UK
Psychiatr Genet 9:161-3. 1999..Linkage and association studies have previously suggested these regions of chromosome 18q and 18p as candidate loci harbouring genes involved in bipolar disorder and schizophrenia...
- A 6.9-Mb high-resolution BAC/PAC contig of human 4p15.3-p16.1, a candidate region for bipolar affective disorderK L Evans
Medical Genetics Section, MRC Human Genetics Unit, University of Edinburgh, Molecular Medicine Centre, Crewe Road, Edinburgh, EH4 2XU, United Kingdom
Genomics 71:315-23. 2001..This contig is an essential preliminary to the identification of candidate genes that predispose to bipolar affective disorder, to the completion of the sequence of the region, and to the development of a high-density SNP map...
- Genetics of schizophrenia and bipolar affective disorder: strategies to identify candidate genesD J Porteous
Medical Genetics Section, University of Edinburgh, Western General Hospital, Edinburgh, Scotland, EH4 2XU
Cold Spring Harb Symp Quant Biol 68:383-94. 2003
- The genomic organisation of the metabotropic glutamate receptor subtype 5 gene, and its association with schizophreniaR S Devon
Medical Genetics Section, University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK
Mol Psychiatry 6:311-4. 2001..A case-control association study identified a significant difference in allele frequency distribution between schizophrenics and controls (P = 0.04). This is suggestive of involvement of the GRM5 gene in schizophrenia in this population...
- Disruption of two novel genes by a translocation co-segregating with schizophreniaJ K Millar
Medical Genetics Section, Department of Medical Sciences, The University of Edinburgh, Molecular Medicine Centre and MRC Human Genetics Unit, both at Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
Hum Mol Genet 9:1415-23. 2000..Altogether, these observations indicate that DISC1 and DISC2 should be considered formal candidate genes for susceptibility to psychiatric illness...
- Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorderK L Evans
MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
Am J Med Genet 96:158-60. 2000..Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:158-160, 2000...
- Joint multi-population analysis for genetic linkage of bipolar disorder or "wellness" to chromosome 4pP M Visscher
Institute of Cell, Animal and Population Biology, University of Edinburgh, United Kingdom
Am J Med Genet B Neuropsychiatr Genet 133:18-24. 2005..Studies reporting linkage to the same region require careful scrutiny and preferably joint or meta analysis on the same basis in order to ensure that the results are truly comparable...
- Transcriptional regulation of neurodevelopmental and metabolic pathways by NPAS3L Sha
Department of Medical Genetics, Institute for Genetics and Molecular Medicine, University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Edinburgh, UK
Mol Psychiatry 17:267-79. 2012....
- Genetic survival analysis of age-at-onset of bipolar disorder: evidence for anticipation or cohort effect in familiesP M Visscher
Institute of Cell, Animal and Population Biology, University of Edinburgh, UK
Psychiatr Genet 11:129-37. 2001..Proportional hazard models appear appropriate to analyse AAO data, and the methodology will be extended to map quantitative trait loci (QTL) for AAO...
- Nuts and bolts of psychiatric genetics: building on the Human Genome ProjectK L Evans
Medical Genetics Section, Department of Medical Sciences, University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Crewe Road, Edinburgh, UK EH4 2XU
Trends Genet 17:35-40. 2001..We discuss the impact of the Human Genome Project, the role of comparative genetics in finding and testing positional candidates, and the prospects for rational drug design and personalized medicine...
- Genomic structure and localisation within a linkage hotspot of Disrupted In Schizophrenia 1, a gene disrupted by a translocation segregating with schizophreniaJ K Millar
Medical Genetics Section The University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, Scotland
Mol Psychiatry 6:173-8. 2001..Information regarding the structure of the DISC1 gene will facilitate assessment of its involvement in the aetiology of major mental illness in psychotic individuals unrelated to carriers of the translocation...
- DISC1 association, heterogeneity and interplay in schizophrenia and bipolar disorderW Hennah
Medical Genetics Section, University of Edinburgh, Edinburgh EH4 2XU, Scotland
Mol Psychiatry 14:865-73. 2009....
- 708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traitsP A Thomson
1 Medical Genetics Section, University of Edinburgh Molecular Medicine Centre, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK 2 Centre for Cognitive Ageing and Cognitive Epidemiology, Edinburgh, UK
Mol Psychiatry 19:668-75. 2014..Together, these observations are likely to generalise to other candidate genes for major mental illness and may thus provide guidelines for the design of future studies. ..
- The influence of polygenic risk for bipolar disorder on neural activation assessed using fMRIH C Whalley
Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, UK
Transl Psychiatry 2:e130. 2012..The findings suggest that this novel polygenic approach to examine brain-imaging data may be a useful means of identifying genetically mediated traits mechanistically linked to the aetiology of BD...
- A genome scan and follow-up study identify a bipolar disorder susceptibility locus on chromosome 1q42S MacGregor
Institute of Cell, Animal and Population Biology, University of Edinburgh, Kings Buildings, Edinburgh, UK
Mol Psychiatry 9:1083-90. 2004..These results, together with results from a number of other recent studies, stress the importance of the 1q42 region in susceptibility to both BPAD and SCZ...
- DNA markers and biological vulnerability markers in families multiply affected with schizophreniaD Blackwood
University Department of Psychiatry, Royal Edinburg Hospital, UK
Eur Arch Psychiatry Clin Neurosci 240:191-6. 1991..It is concluded that biological markers such as P300 and eye tracking may help to clarify the overlap of different types of psychosis and help to define the phenotype for linkage analyses...
- Whole-genome association study of bipolar disorderP Sklar
Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
Mol Psychiatry 13:558-69. 2008..Given the heritability of BP disorder, the lack of agreement between studies emphasizes that susceptibility alleles are likely to be modest in effect size and require even larger samples for detection...