M C O'Donovan

Summary

Affiliation: Cardiff University
Country: UK

Publications

  1. pmc No evidence for association between polymorphisms in GRM3 and schizophrenia
    Nadine Norton
    Department of Psychological Medicine, Wales School of Medicine, Henry Wellcome Building, Cardiff University, Heath Park, Cardiff, UK
    BMC Psychiatry 5:23. 2005
  2. pmc No evidence of association between Catechol-O-Methyltransferase (COMT) Val158Met genotype and performance on neuropsychological tasks in children with ADHD: a case-control study
    Sophie Mills
    Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, CF14 4XN, UK
    BMC Psychiatry 4:15. 2004
  3. pmc Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 2
    M C O'Donovan
    Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, UK
    Mol Psychiatry 14:30-6. 2009
  4. doi request reprint Genetics of psychosis; insights from views across the genome
    Michael C O'Donovan
    Department of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Heath Park, Cardiff CF23 6BQ, UK
    Hum Genet 126:3-12. 2009
  5. ncbi request reprint Anticipation and repeat expansion in bipolar disorder
    MICHAEL O'DONOVAN
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Am J Med Genet C Semin Med Genet 123:10-7. 2003
  6. pmc Genome wide significant linkage in schizophrenia conditioning on occurrence of depressive episodes
    M L Hamshere
    Department of Psychological Medicine, Wales School of Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff, CF14 4XN, UK
    J Med Genet 43:563-7. 2006
  7. ncbi request reprint Linked polymorphisms upstream of exons 1 and 2 of the human cholecystokinin gene are not associated with schizophrenia or bipolar disorder
    T Bowen
    Division of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Mol Psychiatry 3:67-71. 1998
  8. doi request reprint Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha
    L S Carroll
    Department of Psychological Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff, UK
    Mol Psychiatry 15:1101-11. 2010
  9. doi request reprint Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder
    H J Williams
    MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
    Mol Psychiatry 16:429-41. 2011
  10. ncbi request reprint Association analysis of the glial cell line-derived neurotrophic factor (GDNF) gene in schizophrenia
    H J Williams
    Department of Psychological Medicine, Henry Wellcome Building for Biomedical Research, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
    Schizophr Res 97:271-6. 2007

Detail Information

Publications76

  1. pmc No evidence for association between polymorphisms in GRM3 and schizophrenia
    Nadine Norton
    Department of Psychological Medicine, Wales School of Medicine, Henry Wellcome Building, Cardiff University, Heath Park, Cardiff, UK
    BMC Psychiatry 5:23. 2005
    ..Three studies have previously reported data that were interpreted by the authors as supportive of association between schizophrenia and polymorphisms in the gene encoding the metabotropic glutamate receptor GRM3...
  2. pmc No evidence of association between Catechol-O-Methyltransferase (COMT) Val158Met genotype and performance on neuropsychological tasks in children with ADHD: a case-control study
    Sophie Mills
    Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, CF14 4XN, UK
    BMC Psychiatry 4:15. 2004
    ..Two studies showed that subjects with the low activity Met allele performed better on the Wisconsin Card Sorting Test (WCST) and another study found an effect on processing speed and attention...
  3. pmc Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 2
    M C O'Donovan
    Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, UK
    Mol Psychiatry 14:30-6. 2009
    ..17 (95% CI 1.06-1.29), P=0.0009). The SNP maps 85 kb from the nearest gene encoding fibroblast growth factor receptor 2 (FGFR2) making this a potential susceptibility gene for schizophrenia...
  4. doi request reprint Genetics of psychosis; insights from views across the genome
    Michael C O'Donovan
    Department of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Heath Park, Cardiff CF23 6BQ, UK
    Hum Genet 126:3-12. 2009
    ..They also provide grounds for optimism that larger studies will reveal more about the origins of these disorders, although currently, very little of the genetic risk of either disorder is explained...
  5. ncbi request reprint Anticipation and repeat expansion in bipolar disorder
    MICHAEL O'DONOVAN
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Am J Med Genet C Semin Med Genet 123:10-7. 2003
    ..No pathogenic triplet repeat has yet been unambiguously implicated...
  6. pmc Genome wide significant linkage in schizophrenia conditioning on occurrence of depressive episodes
    M L Hamshere
    Department of Psychological Medicine, Wales School of Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff, CF14 4XN, UK
    J Med Genet 43:563-7. 2006
    ..Schizophrenia shows substantial clinical heterogeneity. One common important clinical variable in presentation is the occurrence of episodes of major depression...
  7. ncbi request reprint Linked polymorphisms upstream of exons 1 and 2 of the human cholecystokinin gene are not associated with schizophrenia or bipolar disorder
    T Bowen
    Division of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Mol Psychiatry 3:67-71. 1998
    ....
  8. doi request reprint Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha
    L S Carroll
    Department of Psychological Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff, UK
    Mol Psychiatry 15:1101-11. 2010
    ..However, the evidence across all approaches suggests that further study of this locus is warranted...
  9. doi request reprint Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder
    H J Williams
    MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
    Mol Psychiatry 16:429-41. 2011
    ..The allelic association at the ZNF804A locus is now one of the most compelling in schizophrenia to date, and supports the accumulating data suggesting overlapping genetic risk between schizophrenia and bipolar disorder...
  10. ncbi request reprint Association analysis of the glial cell line-derived neurotrophic factor (GDNF) gene in schizophrenia
    H J Williams
    Department of Psychological Medicine, Henry Wellcome Building for Biomedical Research, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
    Schizophr Res 97:271-6. 2007
    ..We conclude that our sample does not provide independent statistically significant evidence for association between GDNF and schizophrenia, nor does it replicate previous specific reports of association...
  11. ncbi request reprint Screening the human protocadherin 8 (PCDH8) gene in schizophrenia
    N J Bray
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
    Genes Brain Behav 1:187-91. 2002
    ..These results suggest that any contribution of PCDH8 polymorphisms to schizophrenia susceptibility is likely to be weak, although the existence of rare variations of stronger effect cannot be excluded...
  12. ncbi request reprint Mutation screening of the Homer gene family and association analysis in schizophrenia
    N Norton
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, United Kingdom
    Am J Med Genet B Neuropsychiatr Genet 120:18-21. 2003
    ..05). Our results suggest it is unlikely that sequence variants in the Homer genes contribute to the aetiology of schizophrenia, but the variants we identified are plausible candidates for other neuropsychiatric phenotypes...
  13. ncbi request reprint Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach
    N M Williams
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Mol Psychiatry 7:1092-100. 2002
    ..35, P = 0.006, P = 0.078 corrected for 13 alleles)...
  14. ncbi request reprint Detailed analysis of PRODH and PsPRODH reveals no association with schizophrenia
    H J Williams
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, United Kingdom
    Am J Med Genet B Neuropsychiatr Genet 120:42-6. 2003
    ..05 level. These results do not suggest that PRODH or PsPRODH contribute to the aetiology of schizophrenia, and that the putative schizophrenia susceptibility gene in 22q11 remains unknown...
  15. ncbi request reprint Linkage disequilibrium mapping provides further evidence of a gene for reading disability on chromosome 6p21.3-22
    D Turic
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, Wales, UK
    Mol Psychiatry 8:176-85. 2003
    ..Our findings strongly support the presence of a gene contributing to RD in a region of chromosome 6 between markers D6S109 and D6S1260, but do not rule out the presence of a gene between D6S1556 and MOG...
  16. ncbi request reprint Direct analysis of the genes encoding G proteins G alpha T2, G alpha o, G alpha Z in ADHD
    D Turic
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, United Kingdom
    Am J Med Genet B Neuropsychiatr Genet 127:68-72. 2004
    ..All were tested for possible association with ADHD using a combination of pooled and individual genotyping. The results of our study do not suggest that polymorphisms in these genes contribute to susceptibility to ADHD...
  17. doi request reprint Association at SYNE1 in both bipolar disorder and recurrent major depression
    E K Green
    MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Heath Park, Cardiff, UK
    Mol Psychiatry 18:614-7. 2013
    ..032, OR=1.118). Our findings add to the evidence that association at this locus influences susceptibility to bipolar and unipolar mood disorders...
  18. ncbi request reprint Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis. Molecular genetic study
    D Ivanov
    Neuropsychiatric Genetics Unit, Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, UK
    Br J Psychiatry 183:409-13. 2003
    ..About 30% of patients with VCFS have psychosis, and the rate of these deletions in schizophrenia has been reported to be about 1%. Even higher rates of VCFS deletions have been reported for childhood-onset schizophrenia...
  19. doi request reprint No evidence that rare coding variants in ZNF804A confer risk of schizophrenia
    S Dwyer
    MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK
    Am J Med Genet B Neuropsychiatr Genet 153:1411-6. 2010
    ..Our results do not support the hypothesis that moderately rare non-synonymous variants at the ZNF804A locus are involved in schizophrenia susceptibility. © 2010 Wiley-Liss, Inc...
  20. doi request reprint Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype
    N Craddock
    Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, UK
    Mol Psychiatry 15:146-53. 2010
    ..Our method of phenotype refinement may be useful in studies of other complex psychiatric and non-psychiatric disorders...
  21. ncbi request reprint Further support for an association between a polymorphic CAG repeat in the hKCa3 gene and schizophrenia
    T Bowen
    University of Wales College of Medicine, Division of Psychological Medicine, Heath Park, Cardiff, UK
    Mol Psychiatry 3:266-9. 1998
    ..820, P = 0.047, 1-tail). Our data therefore provide modest support for the hypothesis that polymorphism in the hKCa3 gene may contribute to susceptibility to schizophrenia...
  22. pmc Polygenic dissection of the bipolar phenotype
    M L Hamshere
    MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, UK
    Br J Psychiatry 198:284-8. 2011
    ..Recent data provide strong support for a substantial common polygenic contribution (i.e. many alleles each of small effect) to genetic susceptibility for schizophrenia and overlapping susceptibility for bipolar disorder...
  23. doi request reprint Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk
    V Moskvina
    Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, UK
    Mol Psychiatry 14:252-60. 2009
    ..Our analyses show that association signals are enriched in and around genes, large numbers of genes contribute to both disorders and gene-wide analyses offer useful complementary approaches to more standard methods...
  24. doi request reprint A genome-wide association study in 574 schizophrenia trios using DNA pooling
    G Kirov
    Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Cardiff, UK
    Mol Psychiatry 14:796-803. 2009
    ..05, with the best result at P=1.2 x 10(-6) for rs11064768. This SNP is within the gene CCDC60, a coiled-coil domain gene. The third best SNP (P=0.00016) is rs893703, within RBP1, a candidate gene for schizophrenia...
  25. doi request reprint Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC
    M L Hamshere
    MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Heath Park, Cardiff, UK
    Mol Psychiatry 18:708-12. 2013
    ..We also provide strong evidence for overlap in genetic risk between schizophrenia and bipolar disorder...
  26. pmc A systematic genomewide linkage study in 353 sib pairs with schizophrenia
    N M Williams
    Neuropsychiatric Genetics Unit, Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, United Kingdom
    Am J Hum Genet 73:1355-67. 2003
    ..02) to 17p11.2-q25.1 in a single pedigree with schizophrenia. In our view, the evidence is now sufficiently compelling to undertake detailed mapping studies of these three regions...
  27. ncbi request reprint A family based study of catechol-O-methyltransferase (COMT) and attention deficit hyperactivity disorder (ADHD)
    D Turic
    Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, United Kingdom
    Am J Med Genet B Neuropsychiatr Genet 133:64-7. 2005
    ..No evidence for association was observed with any single marker or haplotype in a sample of 279 affected children and their parents...
  28. doi request reprint Schizophrenia susceptibility alleles are enriched for alleles that affect gene expression in adult human brain
    A L Richards
    MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
    Mol Psychiatry 17:193-201. 2012
    ..Moreover, our data show that notwithstanding the likely developmental origin of schizophrenia, studies of adult brain tissue can, in principle, allow relevant susceptibility eQTLs to be identified...
  29. ncbi request reprint Association analysis of two candidate phospholipase genes that map to the chromosome 15q15.1-15.3 region associated with reading disability
    D W Morris
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, United Kingdom
    Am J Med Genet B Neuropsychiatr Genet 129:97-103. 2004
    ..As these are the only clear cut functional candidate genes in the region, identification of the putative susceptibility locus for RD on 15q will require more methodical non-hypothesis driven positional cloning approaches...
  30. doi request reprint Evidence that variation in the oligodendrocyte lineage transcription factor 2 (OLIG2) gene is associated with psychosis in Alzheimer's disease
    R Sims
    Department of Psychological Medicine, Cardiff University School of Medicine, Heath Park, Cardiff CF144XN, UK
    Neurosci Lett 461:54-9. 2009
    ..Significant evidence for association of psychotic symptoms within cases was identified for two SNPs, rs762237 (allelic P=0.002, OR=1.42, corrected P=0.019) and rs2834072 (allelic P=0.004, OR=1.41, corrected P=0.05)...
  31. ncbi request reprint Interaction between the ADAM12 and SH3MD1 genes may confer susceptibility to late-onset Alzheimer's disease
    D Harold
    Department of Psychological Medicine, Cardiff University School of Medicine, Heath Park, Cardiff, United Kingdom
    Am J Med Genet B Neuropsychiatr Genet 144:448-52. 2007
    ..The most significant statistical interaction is between rs3740473, a synonymous single nucleotide polymorphism (SNP) in SH3MD1 and rs11244787, an intronic SNP in ADAM12 (effect size = 2.1 for interaction term, P = 0.006)...
  32. ncbi request reprint Identification in 2 independent samples of a novel schizophrenia risk haplotype of the dystrobrevin binding protein gene (DTNBP1)
    N M Williams
    Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, Wales
    Arch Gen Psychiatry 61:336-44. 2004
    ..Recent research suggests that variation in the gene encoding dystrobrevin binding protein (DTNBP1) confers susceptibility to schizophrenia. Thus far, no specific risk haplotype has been identified in more than 1 study...
  33. doi request reprint DISC1 exon 11 rare variants found more commonly in schizoaffective spectrum cases than controls
    E K Green
    MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, United Kingdom
    Am J Med Genet B Neuropsychiatr Genet 156:490-2. 2011
    ..In sequencing exon 11 in 506 cases and 1,211 controls for variants that occurred only once, 4 additional rare variants were found in cases (P-value = 0.008, Fisher's exact trend test)...
  34. pmc The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia
    E K Green
    Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
    Mol Psychiatry 15:1016-22. 2010
    ....
  35. doi request reprint Mutation screening of the DTNBP1 exonic sequence in 669 schizophrenics and 710 controls using high-resolution melting analysis
    S Dwyer
    MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff University, Cardiff, UK
    Am J Med Genet B Neuropsychiatr Genet 153:766-74. 2010
    ..Taken as a whole, this data demonstrate that if DTNBP1 is a risk gene for schizophrenia then risk is not conferred by mutations that affect the structure of the dysbindin protein...
  36. ncbi request reprint Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor
    N M Williams
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
    Mol Psychiatry 7:508-14. 2002
    ..2). These SNPs will therefore be suitable for studying neuropsychiatric phenotypes that are putatively related to NMDA dysfunction. Pooled analysis provided no support for association between any of the GRIN genes and schizophrenia...
  37. ncbi request reprint Streamlined approach to functional analysis of promoter-region polymorphisms
    S L Coleman
    University of Wales College of Medicine, Cardiff, UK
    Biotechniques 33:412, 414, 416 passim. 2002
    ....
  38. pmc De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia
    G Kirov
    Department of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK
    Mol Psychiatry 17:142-53. 2012
    ..14). Our data indicate that defects in NMDAR postsynaptic signalling and, possibly, ARC complexes, which are known to be important in synaptic plasticity and cognition, play a significant role in the pathogenesis of schizophrenia...
  39. doi request reprint Association analysis of dynamin-binding protein (DNMBP) on chromosome 10q with late onset Alzheimer's disease in a large caucasian UK sample
    A R Morgan
    Department of Psychological Medicine, School of Medicine, Cardiff University, UK
    Am J Med Genet B Neuropsychiatr Genet 150:61-4. 2009
    ..027, allelic P = 0.066). However this association was in the opposite direction to that detected in the Japanese population. It remains to be determined whether DNMBP is associated with LOAD...
  40. ncbi request reprint Screening ABCG1, the human homologue of the Drosophila white gene, for polymorphisms and association with bipolar affective disorder
    G Kirov
    Neuropsychiatric Genetics Unit, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
    Mol Psychiatry 6:671-7. 2001
    ..The polymorphisms identified in this study will be useful in examining the role of this gene in other neuropsychiatric disorders and behavioural traits...
  41. ncbi request reprint Changes in dopamine D1, D2 and D3 receptor mRNA levels in rat brain following antipsychotic treatment
    P R Buckland
    Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, UK
    Psychopharmacology (Berl) 106:479-83. 1992
    ..These results indicate that the up-regulation of dopamine receptors may be associated with the occurrence of tardive dyskinesia but not the clinical mode of action of antipsychotics...
  42. ncbi request reprint Testing for gene x environment interaction effects in attention deficit hyperactivity disorder and associated antisocial behavior
    K Langley
    Department of Psychological Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
    Am J Med Genet B Neuropsychiatr Genet 147:49-53. 2008
    ..There may be evidence of G x E on associated antisocial behavior in ADHD, but further investigation is needed...
  43. doi request reprint Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia
    L S Carroll
    MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, UK
    Am J Med Genet B Neuropsychiatr Genet 156:844-9. 2011
    ..Therefore very rare, low-to-moderate penetrance protein coding mutations or non-coding mutations at DLG1 and/or PAK2, or a nearby gene, may reproduce the behavioral characteristics of the 3q29 microdeletion...
  44. ncbi request reprint Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease
    A R Morgan
    Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, UK
    Am J Med Genet B Neuropsychiatr Genet 144:762-70. 2007
    ..Two SNPs in SGPL1 demonstrated marginal evidence of association, with uncorrected P values of 0.042 and 0.056, suggesting that variation in SGPL1 may confer susceptibility to LOAD...
  45. ncbi request reprint CUX2, a potential regulator of NCAM expression: genomic characterization and analysis as a positional candidate susceptibility gene for bipolar disorder
    N J Jacobsen
    Neuropsychiatric Genetics Unit, Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, United Kingdom
    Am J Med Genet 105:295-300. 2001
    ..No evidence was found for the involvement of variants within the CUX2 coding, or 5' UTR sequence in producing susceptibility to bipolar disorder...
  46. doi request reprint Evidence that putative ADHD low risk alleles at SNAP25 may increase the risk of schizophrenia
    L S Carroll
    Department of Psychological Medicine, School of Medicine, Cardiff University, Henry Wellcome Building for Biomedical Research in Wales, Heath Park, Cardiff, UK
    Am J Med Genet B Neuropsychiatr Genet 150:893-9. 2009
    ....
  47. ncbi request reprint Identification of a potential bipolar risk haplotype in the gene encoding the winged-helix transcription factor RFX4
    B Glaser
    Department of Psychological Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff, Wales, UK
    Mol Psychiatry 10:920-7. 2005
    ..001), where some of the variance was accounted for by the genotype at ss24735177. Our findings thus indicate the potential functional relevance of the associated haplotype and now require replication in independent samples...
  48. pmc Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept
    M L Hamshere
    Biostatistics and Bioinformatics Unit and Department of Psychological Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Br J Psychiatry 195:23-9. 2009
    ..Although many of these phenotypes are heritable, it would be useful to know whether any of the various diagnostic categories in current use identify cases that are particularly helpful for biological-genetic research...
  49. doi request reprint Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample
    E K Green
    Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Heath Park, Cardiff, UK
    Mol Psychiatry 18:1302-7. 2013
    ..Second, rs3818253 (P=3.88 × 10(-8), OR=1.16), an intronic SNP on chromosome 20q11.2 in the gene TRPC4AP, which lies in a high linkage disequilibrium region along with the genes GSS and MYH7B. ..
  50. ncbi request reprint Support for genetic variation in neuregulin 1 and susceptibility to schizophrenia
    N M Williams
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, Wales CF14 4XN, UK
    Mol Psychiatry 8:485-7. 2003
    ..6%; P=0.019). Our results therefore replicate the Icelandic findings in an out-bred Northern European population, although they suggest that the risk conferred by the haplotype is small...
  51. doi request reprint DISC1 mRNA expression is not influenced by common Cis-acting regulatory polymorphisms or imprinting
    J B G Hayesmoore
    Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, UK
    Am J Med Genet B Neuropsychiatr Genet 147:1065-9. 2008
    ....
  52. ncbi request reprint Exclusion of the Darier's disease gene, ATP2A2, as a common susceptibility gene for bipolar disorder
    N J Jacobsen
    Neuropsychiatric Genetics Unit, Division of Psychological Medicine, Tenovus Building, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
    Mol Psychiatry 6:92-7. 2001
    ..Analysis of allele and genotype distributions for all six variations, and of haplotype frequencies showed no evidence for the involvement of ATP2A2 in producing susceptibility to bipolar disorder...
  53. ncbi request reprint Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection
    M C O'Donovan
    Division of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, CF4 4XN, United Kingdom
    Genomics 52:44-9. 1998
    ..We conclude that DHPLC is a highly sensitive and specific method for mutation detection...
  54. ncbi request reprint Schizophrenia: genes at last?
    M J Owen
    Department of Psychological Medicine, Wales College of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
    Trends Genet 21:518-25. 2005
    ..The identification of these, and other susceptibility genes, will open up new avenues for research aimed at understanding the pathogenesis of schizophrenia, and will catalyse a re-appraisal of the classification of psychiatric disorders...
  55. ncbi request reprint Increased familial risk and genomewide significant linkage for Alzheimer's disease with psychosis
    P Hollingworth
    Department of Psychological Medicine, Cardiff University School of Medicine, Heath Park, Cardiff, United Kingdom
    Am J Med Genet B Neuropsychiatr Genet 144:841-8. 2007
    ..These findings support the hypothesis that psychotic symptoms in AD are genetically modified and that a gene/s implicated in their aetiology may be located on chromosome 7 and 15...
  56. ncbi request reprint Lack of functional promoter polymorphisms in genes involved in glutamate neurotransmission
    S K Smith
    Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, UK
    Psychiatr Genet 13:193-9. 2003
    ..As part of a larger survey into the key regulatory elements in genes of neuro-psychiatric interest, we sought to identify the promoter regions of genes in this broad family, and to identify sequence variants that alter gene expression...
  57. pmc Genome-wide association study of Alzheimer's disease with psychotic symptoms
    P Hollingworth
    Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Neurosciences and Mental Health Research Institute, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
    Mol Psychiatry 17:1316-27. 2012
    ..These findings warrant further investigation in larger, appropriately powered samples in which the presence of psychotic symptoms in AD has been well characterized...
  58. ncbi request reprint Detailed analysis of the relative power of direct and indirect association studies and the implications for their interpretation
    V Moskvina
    Department of Psychological Medicine, Wales College of Medicine, Cardiff University, Cardiff, UK
    Hum Hered 64:63-73. 2007
    ..In the absence of detailed knowledge about the genetic architecture at complex disease loci, we developed a mathematical approach to test all possible situations...
  59. ncbi request reprint Further evidence that the KIAA0319 gene confers susceptibility to developmental dyslexia
    D Harold
    Department of Psychological Medicine, Cardiff University, Heath Park, Cardiff, UK
    Mol Psychiatry 11:1085-91, 1061. 2006
    ..Our data also suggests a possible interaction between KIAA0319 and DCDC2, which requires further testing...
  60. pmc Genomewide linkage scan of schizophrenia in a large multicenter pedigree sample using single nucleotide polymorphisms
    P A Holmans
    Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, UK
    Mol Psychiatry 14:786-95. 2009
    ....
  61. pmc Steroid sulfatase is a potential modifier of cognition in attention deficit hyperactivity disorder
    E Stergiakouli
    MRC Centre for Neuropsychiatric Genetics and Genomics and Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
    Genes Brain Behav 10:334-44. 2011
    ..These data suggest that genetic variants affecting STS expression and/or activity could influence the function of brain regions perturbed in ADHD...
  62. ncbi request reprint The catechol-O-methyl transferase (COMT) gene as a candidate for psychiatric phenotypes: evidence and lessons
    N Craddock
    Department of Psychological Medicine, The Henry Wellcome Building for Biomedical Research in Wales, Cardiff University, School of Medicine, Heath Park, Cardiff, UK
    Mol Psychiatry 11:446-58. 2006
    ..In this review, we consider the current state of evidence and the implications both for further studies of COMT and more generally for studies of other genes...
  63. ncbi request reprint Repeat sizes at CAG/CTG loci CTG18.1, ERDA1 and TGC13-7a in schizophrenia
    T Bowen
    Division of Psychological Medicine, University of Wales College of Medicine, Cardiff, UK
    Psychiatr Genet 10:33-7. 2000
    ..No evidence for association of CTG18.1, ERDA1 and/or TGC13-7a with schizophrenia was found. The combined data accounted for only 54% of the CAG/CTG arrays of > 40 repeats found in our previous RED analysis...
  64. ncbi request reprint Family-based association mapping provides evidence for a gene for reading disability on chromosome 15q
    D W Morris
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
    Hum Mol Genet 9:843-8. 2000
    ..In addition, our results provide support for association analysis being a useful method to map susceptibility loci for complex disorders...
  65. pmc The genetics of schizophrenia and bipolar disorder: dissecting psychosis
    N Craddock
    Department of Psychological Medicine, The Henry Wellcome Building for Biomedical Research, Wales School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
    J Med Genet 42:193-204. 2005
    ..Future identification of psychosis susceptibility genes will have a major impact on our understanding of disease pathophysiology and will lead to changes in classification and the clinical practice of psychiatry...
  66. ncbi request reprint Searching for susceptibility genes in schizophrenia
    I Jurewicz
    Department of Psychological Medicine, University of Wales College of Medicine, Cardiff CF14 4XN, UK
    Eur Neuropsychopharmacol 11:395-8. 2001
    ..Future directions in schizophrenia research include collecting larger samples to increase power of findings and applying novel methods for large-scale genotyping of single-nucleotide polymorphisms...
  67. ncbi request reprint Lack of effect of chronic antipsychotic treatment on dopamine D5 receptor mRNA level
    P R Buckland
    Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, UK
    Eur Neuropsychopharmacol 2:405-9. 1992
    ..We also conclude that up-regulation of the D5 receptor is not likely to be involved in the mechanism of action of antipsychotic drugs...
  68. ncbi request reprint The serotonin-2A receptor gene locus does not contain common polymorphism affecting mRNA levels in adult brain
    N J Bray
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, UK
    Mol Psychiatry 9:109-14. 2004
    ....
  69. ncbi request reprint Both splicing variants of the dopamine D2 receptor mRNA are up-regulated by antipsychotic drugs
    P R Buckland
    Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, UK
    Neurosci Lett 150:25-8. 1993
    ..Both long and short mRNA variants were increased in abundance by approximately 2-fold by both haloperidol and loxapine after 32 days drug administration...
  70. ncbi request reprint The molecular genetics of schizophrenia: new findings promise new insights
    M J Owen
    Department of Psychological Medicine, Neuropsychiatric Genetics Unit, University of Wales College of Medicine, Cardiff, UK
    Mol Psychiatry 9:14-27. 2004
    ..The ability of positional genetics to implicate novel genes and pathways will open up new vistas for neurobiological research, and all the signs are that it is now poised to deliver crucial insights into the nature of schizophrenia...
  71. doi request reprint Recent genomic advances in schizophrenia
    J L Doherty
    MRC Centre for Neuropsychiatric Genetics and Genomics, and Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK
    Clin Genet 81:103-9. 2012
    ..These findings have implications for pathogenesis and nosology of schizophrenia and related disorders, and for future genetic studies...
  72. ncbi request reprint Characterisation, mutation detection, and association analysis of alternative promoters and 5' UTRs of the human dopamine D3 receptor gene in schizophrenia
    R J Anney
    Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
    Mol Psychiatry 7:493-502. 2002
    ..The results from this study imply that neither the coding nor the regulatory region of DRD3 plays a major role in predisposition to schizophrenia...
  73. doi request reprint The ENCODE project: implications for psychiatric genetics
    D H Kavanagh
    MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff University, Cardiff, UK
    Mol Psychiatry 18:540-2. 2013
    ..We reviewed some of the key findings from the ENCODE publications and discuss how they can influence or inform further investigations into the genetic factors contributing to neuropsychiatric disorders...
  74. ncbi request reprint No support for association between the dopamine transporter (DAT1) gene and ADHD
    K Langley
    Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, United Kingdom
    Am J Med Genet B Neuropsychiatr Genet 139:7-10. 2005
    ..63 (df 3) P = 0.65). We conclude that the 3' VNTR and three additional promoter variants in DAT1 do not appear to be associated with ADHD, or response to stimulant mediation in our sample...
  75. ncbi request reprint Exclusion of expansion of 50 CAG/CTG trinucleotide repeats in bipolar disorder
    C Guy
    Division of Psychological Medicine, University of Wales College of Medicine, Cardiff, Wales
    Am J Psychiatry 154:1146-7. 1997
    ..The purpose of this study was to identify the specific expanded CAG/CTG trinucleotide repeat associated with bipolar disorder...
  76. ncbi request reprint ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes
    N J Jacobsen
    Neuropsychiatric Genetics Unit, Division of Psychological Medicine, Tenovus Building, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK
    Hum Mol Genet 8:1631-6. 1999
    ..This supports the hypothesis that the DD gene has pleiotropic effects in brain and that mutations in SERCA2 are implicated in the pathogenesis of neuropsychiatric disorders...