Research Topics
Genomes and Genes
| Michael J OwenSummaryAffiliation: Cardiff University Country: UK Publications
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Detail Information
Publications
Neurodevelopmental hypothesis of schizophreniaMichael J Owen
MRC Centre for Neuropsychiatric Genetics and Genomics, Neuroscience and Mental Health Research Institute, Cardiff University, UK
Br J Psychiatry 198:173-5. 2011..This has important implications for future research and for the configuration of psychiatric services...
Implications of genetic findings for understanding schizophreniaMichael J Owen
MRC Centre for Neuropsychiatric Genetics and Genomics, and Neuroscience and Mental Health Research Institute, Cardiff University School of Medicine, Cardiff, UK
Schizophr Bull 38:904-7. 2012....
The health informatics cohort enhancement project (HICE): using routinely collected primary care data to identify people with a lifetime diagnosis of psychotic disorderAlexis Economou
Centre for Health Information Research and Evaluation, ILS2, College of Medicine, Swansea University, Swansea, SA2 8PP, UK
BMC Res Notes 5:95. 2012..abstract:..
De novo mutation in schizophreniaElliott Rees
MRC Centre for Neuropsychiatric Genetics and Genomics, Mental Health Research Institute, Cardiff University School of Medicine, Henry Wellcome Building, Heath Park, Cardiff, CF14 4XN, UK
Schizophr Bull 38:377-81. 2012..However, these are very small in scale, and the results can only be considered as preliminary...
The Depression Network (DeNT) Study: methodology and sociodemographic characteristics of the first 470 affected sibling pairs from a large multi-site linkage genetic studyAnne Farmer
Medical Research Council Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, London, UK
BMC Psychiatry 4:42. 2004..This study presents the method and socio-demographic details of the first 470 affected sibling pairs recruited from 8 different sites in Europe and the United States of America...
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...
The genetic deconstruction of psychosisMichael J Owen
Department of Psychological Medicine, The School of Medicine, Cardiff University, Cardiff, UK
Schizophr Bull 33:905-11. 2007....
Schizophrenia genetics: advancing on two frontsMichael J Owen
MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
Curr Opin Genet Dev 19:266-70. 2009..There is evidence both for an increased burden of CNVs in schizophrenia and that risk is conferred by specific large deletions at 1q21.1 and at 15q13.2 and by deletions of NRXN1 which encodes the synaptic scaffolding protein neurexin 1...
Genomewide linkage scan in schizoaffective disorder: significant evidence for linkage at 1q42 close to DISC1, and suggestive evidence at 22q11 and 19p13Marian L Hamshere
Department of Psychological Medicine, School of Medicine, Cardiff University, Wales
Arch Gen Psychiatry 62:1081-8. 2005..Follow-up of this region should use samples enriched for cases of schizoaffective disorder. Our findings have similar implications for the search for genetic variation on chromosome 22q11 that influences susceptibility to psychosis...
No association between schizophrenia and polymorphisms in COMT in two large samplesHywel J Williams
Department of Psychological Medicine, Henry Wellcome Building for Biomedical Research, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
Am J Psychiatry 162:1736-8. 2005..The authors examined these hypotheses...
Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophreniaLyudmila Georgieva
Department of Psychological Medicine, Cardiff University School of Medicine, Heath Park, Cardiff CF14 4XN, United Kingdom
Proc Natl Acad Sci U S A 103:12469-74. 2006..Our data provide strong convergent evidence that variation in OLIG2 confers susceptibility to schizophrenia alone and as part of a network of genes implicated in oligodendrocyte function...
Support for neuregulin 1 as a susceptibility gene for bipolar disorder and schizophreniaLyudmila Georgieva
Department of Psychological Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, United Kingdom
Biol Psychiatry 64:419-27. 2008..We wished to investigate further the involvement of NRG1 in schizophrenia and bipolar disorder...
Phenotype evaluation and genomewide linkage study of clinical variables in schizophreniaMarian L Hamshere
MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff, UK
Am J Med Genet B Neuropsychiatr Genet 156:929-40. 2011..At present there are no genome-wide significant linkage results for these phenotypes, but a number of suggestive findings warrant further investigation...
Convergent evidence for 2',3'-cyclic nucleotide 3'-phosphodiesterase as a possible susceptibility gene for schizophreniaTimothy R Peirce
Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, Wales
Arch Gen Psychiatry 63:18-24. 2006..However, it is unclear whether the observed changes in the schizophrenic brain are primary or secondary...
Association analysis of AKT1 and schizophrenia in a UK case control sampleNadine Norton
Department of Psychological Medicine, Wales School of Medicine, Henry Wellcome Building, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
Schizophr Res 93:58-65. 2007..Examination of our own data and those of other groups leads us to conclude that overall, the evidence for association of AKT1 as a susceptibility gene for schizophrenia is weakly positive, but not yet convincing...
Analysis of ProDH, COMT and ZDHHC8 risk variants does not support individual or interactive effects on schizophrenia susceptibilityBeate Glaser
Department of Psychological Medicine, Cardiff University, Heath Park, Cardiff, UK, and Department of Psychiatry, Royal College of Surgeons in Ireland, Education and Research Centre, Beaumont Hospital, Dublin, Ireland
Schizophr Res 87:21-7. 2006..Our data do not support the hypothesis that an interaction between these genes influences susceptibility to schizophrenia...
Evidence that interaction between neuregulin 1 and its receptor erbB4 increases susceptibility to schizophreniaNadine Norton
Department of Psychological Medicine, Wales School of Medicine, Heath Park, Cardiff CF14 4XN, Wales, UK
Am J Med Genet B Neuropsychiatr Genet 141:96-101. 2006....
Genetic variation of brain-derived neurotrophic factor (BDNF) in bipolar disorder: case-control study of over 3000 individuals from the UKElaine K Green
Department of Psychological Medicine, Henry Wellcome Building, Wales College of Medicine, Cardiff University, Heath Park, Cardiff CF4 4XN, Wales, UK
Br J Psychiatry 188:21-5. 2006..Three family-based studies have shown association of the common Valine (Val) allele of the Val66Met polymorphism of the BDNF gene with susceptibility to bipolar disorder...
Psychosis susceptibility gene ZNF804A and cognitive performance in schizophreniaJames T R Walters
Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, Wales
Arch Gen Psychiatry 67:692-700. 2010..The Zinc Finger Protein 804A gene (ZNF804A) has been implicated in schizophrenia susceptibility by several genome-wide association studies. ZNF804A is brain expressed but of unknown function...
Linkage disequilibrium mapping of bipolar affective disorder at 12q23-q24 provides evidence for association at CUX2 and FLJ32356Beate Glaser
Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, Wales, UK
Am J Med Genet B Neuropsychiatr Genet 132:38-45. 2005..Our data provide evidence for association between bipolar mood disorder and markers on chromosome 12q23-q24 but need replication in independent samples...
An association study of common variation at the MAPT locus with late-onset Alzheimer's diseaseRichard Abraham
Department of Psychological Medicine, Cardiff University School of Medicine, Heath Park, UK
Am J Med Genet B Neuropsychiatr Genet 150:1152-5. 2009..In summary, we find no evidence for allelic or haplotypic association, with SNPs in the MAPT gene and LOAD. SNP rs242557 is nominally significant in the APOE4 positive individuals. None of the SNPs studied modified AAO for LOAD...
Genotype effects of CHRNA7, CNR1 and COMT in schizophrenia: interactions with tobacco and cannabis useStanley Zammit
Department of Psychological Medicine, Cardiff University, Heath Park, Cardiff, UK
Br J Psychiatry 191:402-7. 2007..Genetic variations might modify associations between schizophrenia and cannabis or tobacco use...
TCF4, schizophrenia, and Pitt-Hopkins SyndromeDerek J Blake
Department of Psychological Medicine and Neurology, Medical Research Council Center for Neuropsychiatric Genetics and Genomics, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK
Schizophr Bull 36:443-7. 2010..These data suggest that TCF4, NRXN1, and CNTNAP2 may participate in a biological pathway that is altered in patients with schizophrenia and other neuropsychiatric disorders...
Association between TCF4 and schizophrenia does not exert its effect by common nonsynonymous variation or by influencing cis-acting regulation of mRNA expression in adult human brainHywel J Williams
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 156:781-4. 2011....
The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's diseaseAmy Gerrish
MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK
J Alzheimers Dis 28:377-87. 2012..However, the gene-wide effect observed at MAPT indicates a possible contribution to disease risk which requires further study...
Association study in the 5q31-32 linkage region for schizophrenia using pooled DNA genotypingIrina Zaharieva
Department of Psychological Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
BMC Psychiatry 8:11. 2008..Several linkage studies suggest that chromosome 5q31-32 might contain risk loci for schizophrenia (SZ). We wanted to identify susceptibility genes for schizophrenia within this region...
Support for RGS4 as a susceptibility gene for schizophreniaNigel M Williams
Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, United Kingdom
Biol Psychiatry 55:192-5. 2004..Although the original report was highly suggestive, a limitation was that the study was conducted on rather small samples...
Strong evidence for association between the dystrobrevin binding protein 1 gene (DTNBP1) and schizophrenia in 488 parent-offspring trios from BulgariaGeorge Kirov
Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, United Kingdom
Biol Psychiatry 55:971-5. 2004..We tried to replicate these findings in a sample of 488 parent-proband trios recruited in Bulgaria. Probands had a diagnosis of schizophrenia (n = 441) or schizoaffective disorder (n = 47)...
No evidence for association between polymorphisms in GRM3 and schizophreniaNadine 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...
Adolescent clinical outcomes for young people with attention-deficit hyperactivity disorderKate Langley
Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff, UK
Br J Psychiatry 196:235-40. 2010..Attention-deficit hyperactivity disorder (ADHD) is recognised as a common, disabling condition. Little information is available regarding the long-term outcomes for individuals with ADHD in the UK...
Psychopathy trait scores in adolescents with childhood ADHD: the contribution of genotypes affecting MAOA, 5HTT and COMT activityTom Fowler
Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff, UK
Psychiatr Genet 19:312-9. 2009..The aims of this study were to test whether these gene variants are linked to psychopathy traits in attention-deficit hyperactivity disorder (ADHD)...
Genotype link with extreme antisocial behavior: the contribution of cognitive pathwaysKate Langley
Department of Psychological Medicine and Neurology, Cardiff University, Wales, England
Arch Gen Psychiatry 67:1317-23. 2010..The same genotype has also been implicated in affecting cognitive function in healthy individuals. Impaired cognitive function might therefore lie on the risk pathway from genotype to clinical outcome...
Identification of loci associated with schizophrenia by genome-wide association and follow-upMichael C O'Donovan
Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, UK
Nat Genet 40:1053-5. 2008..Meta-analysis provided strongest evidence for association around ZNF804A (P = 1.61 x 10(-7)) and this strengthened when the affected phenotype included bipolar disorder (P = 9.96 x 10(-9))...
Strong evidence that GNB1L is associated with schizophreniaNigel M Williams
Department of Psychological Medicine, Wales School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
Hum Mol Genet 17:555-66. 2008..However, other explanations are possible, and further analyses will be required to clarify the correct functional mechanism...
Four components describe behavioral symptoms in 1,120 individuals with late-onset Alzheimer's diseasePaul Hollingworth
Department of Psychological Medicine, Cardiff University School of Medicine, Heath Park, Cardiff, United Kingdom
J Am Geriatr Soc 54:1348-54. 2006..CONCLUSION: Four behavioral components were identified that were comparable with those observed previously. Future analysis of these components will strengthen understanding of the underlying pathology of behavioral symptoms and AD...
Localization of bipolar susceptibility locus by molecular genetic analysis of the chromosome 12q23-q24 region in two pedigrees with bipolar disorder and Darier's diseaseElaine Green
Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, Wales, UK
Am J Psychiatry 162:35-42. 2005..Further molecular genetic analysis of this region is required to identify the gene(s)...
Haplotypes at the dystrobrevin binding protein 1 (DTNBP1) gene locus mediate risk for schizophrenia through reduced DTNBP1 expressionNicholas J Bray
Department of Psychological Medicine, School of Medicine, Cardiff University, Heath Park, UK
Hum Mol Genet 14:1947-54. 2005..Our data indicate that variation in the DTNBP1 gene confers susceptibility to schizophrenia through reduced expression, and that this, therefore, represents a primary aetiological mechanism in the disorder...
A family based study implicates solute carrier family 1-member 3 (SLC1A3) gene in attention-deficit/hyperactivity disorderDarko Turic
Department of Psychological Medicine, Cardiff University, School of Medicine, Heath Park, Cardiff, United Kingdom
Biol Psychiatry 57:1461-6. 2005..SLC1A3 is thus both a functional and positional candidate gene for ADHD...
Phenotypic variation between parent-offspring trios and non-trios in genetic studies of schizophreniaStanley Zammit
Department of Psychological Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
J Psychiatr Res 40:622-6. 2006....
Copy number variation in schizophrenia in the Japanese populationMasashi Ikeda
Medical Research Council MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff CF14 4XN, United Kingdom
Biol Psychiatry 67:283-6. 2010..Copy number variants (CNVs) have been shown to increase the risk to develop schizophrenia. The best supported findings are at 1q21.1, 15q11.2, 15q13.3, and 22q11.2 and deletions at the gene neurexin 1 (NRXN1)...
Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approachesMasashi Ikeda
MRC, Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, United Kingdom
Biol Psychiatry 67:263-9. 2010..Pharmacogenomic approaches based on genomewide sets of single nucleotide polymorphisms (SNPs) are now feasible and offer the potential to uncover variants that influence drug response...
Polymorphisms in the MAOA, MAOB, and COMT genes and aggressive behavior in schizophreniaStanley Zammit
Department of Psychological Medicine, University of Wales College of Medicine, Cardiff CF14 4XN, Wales, United Kingdom
Am J Med Genet B Neuropsychiatr Genet 128:19-20. 2004..These results fail to support the theory that functional polymorphisms within the MAOA, MAOB, or COMT genes, as determinants of catecholamine enzymatic activity, are risk factors for aggressive behavior...
Advances in genetic findings on attention deficit hyperactivity disorderAnita Thapar
Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, UK
Psychol Med 37:1681-92. 2007....
Psychopathy traits in adolescents with childhood attention-deficit hyperactivity disorderTom Fowler
Department of Psychological Medicine, Cardiff University, Cardiff, UK
Br J Psychiatry 194:62-7. 2009..Children with attention-deficit hyperactivity disorder (ADHD) are thought to be at higher risk of psychopathy. Early biological and social adversity may contribute to this risk...
Pooled DNA genotyping on Affymetrix SNP genotyping arraysGeorge Kirov
Department of Psychological Medicine, Henry Wellcome Building, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
BMC Genomics 7:27. 2006..However, thus far, this conclusion is based upon published data concerning only a small number of SNPs...
A single nucleotide polymorphism in CHAT influences response to acetylcholinesterase inhibitors in Alzheimer's diseaseDenise Harold
Department of Psychological Medicine, Cardiff University, Cardiff, UK
Pharmacogenet Genomics 16:75-7. 2006..Treatment with acetylcholinesterase (AChE) inhibitors aims to reverse this deficit and does ameliorate the decline in cognition in some AD patients, although response is variable...
Support for the involvement of large copy number variants in the pathogenesis of schizophreniaGeorge Kirov
Department of Psychological Medicine, Cardiff University, Heath Park, Cardiff, UK
Hum Mol Genet 18:1497-503. 2009..2 and schizophrenia (P = 0.026). This study confirms the involvement of rare CNVs in the pathogenesis of schizophrenia and contributes to the growing list of specific CNVs that are implicated...
Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's diseaseLesley Jones
Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Cardiff, United Kingdom
PLoS ONE 5:e13950. 2010..We have now exploited these GWAS datasets to uncover key LOAD pathophysiological processes...
Association analysis of the HOPA12bp polymorphism in schizophrenia and manic depressive illnessGeorge Kirov
Neuropsychiatric Genetics Unit, Department of Psychological Medicine, University of Wales College of Medicine, Tenovus Building, Heath Park, Cardiff CF144 4XN, Wales, UK
Am J Med Genet B Neuropsychiatr Genet 118:16-9. 2003..6%, P = 0.6. We conclude that the HOPA polymorphism is unlikely to be a major risk factor in the pathogenesis of these major psychiatric disorders although there could be a small effect in schizophrenia...
Schizophrenia and functional polymorphisms in the MAOA and COMT genes: no evidence for association or epistasisNadine Norton
Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, UK
Am J Med Genet 114:491-6. 2002..Our data, therefore, do not support the hypothesis that genetic variation in MAOA and COMT is involved individually or in combination in the etiology of schizophrenia...
Is COMT a susceptibility gene for schizophrenia?Hywel J Williams
Department of Psychological Medicine, School of Medicine, Cardiff Uniiversity, Henry Wellcome Building, Health Park, Cardiff CF14 4XN, UK
Schizophr Bull 33:635-41. 2007....
Investigating the contribution of common genetic variants to the risk and pathogenesis of ADHDEvangelia Stergiakouli
MRC Centre in Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff, Wales
Am J Psychiatry 169:186-94. 2012..The authors undertook a GWAS of ADHD and examined whether associated SNPs, including those below conventional levels of significance, influenced the same biological pathways affected by CNVs...
Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundariesHywel J Williams
MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
Hum Mol Genet 20:387-91. 2011..7 × 10(-5)). Including earlier reported data for trans-disorder effects for ZNF804A and CACNA1C, six out of eight of the most robustly associated loci for either disorder show trans-disorder effects...
Cannabis, COMT and psychotic experiencesStanley Zammit
Department of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
Br J Psychiatry 199:380-5. 2011..A putative interaction between cannabis and variation at rs4680 within the catechol-methyl-transferase (COMT) gene on psychosis has been reported, but not adequately replicated...
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's diseasePaul 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
Nat Genet 43:429-35. 2011..0 × 10(-4); including ADGC data, meta P = 8.6 × 10(-9)), CD33 (GERAD+, P = 2.2 × 10(-4); including ADGC data, meta P = 1.6 × 10(-9)) and EPHA1 (GERAD+, P = 3.4 × 10(-4); including ADGC data, meta P = 6.0 × 10(-10))...
Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypesNicholas J Bray
Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff, UK
Hum Mol Genet 13:2885-92. 2004..02). Our data indicate that, in human brain, most of the cis-acting variance in APOE expression is accounted for by the epsilon4 haplotype, but there are additional, small, cis-acting influences associated with promoter genotype...
Variation at the GABAA receptor gene, Rho 1 (GABRR1) associated with susceptibility to bipolar schizoaffective disorderElaine K Green
Department of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom
Am J Med Genet B Neuropsychiatr Genet 153:1347-9. 2010..Here we provide suggestive evidence implicating a sixth member of the gene family, GABRR1 (gene-wide P = 0.0058; experiment-wide corrected significance P = 0.052)...
Analysis of neurogranin (NRGN) in schizophreniaRhodri Ll Smith
MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine, School of Medicine, Cardiff University, United Kingdom
Am J Med Genet B Neuropsychiatr Genet 156:532-5. 2011..Finally, analysis of a brain expression dataset of at least 130 individuals did not identify any eQTLs that were correlated with associated SNP rs12807809 following correction for multiple testing...
Genome-wide linkage analysis of 723 affected relative pairs with late-onset Alzheimer's diseaseMarian L Hamshere
Biostatistics and Bioinformatics Unit, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
Hum Mol Genet 16:2703-12. 2007..Where samples overlapped, the genotyping consistency was high, estimated to average at 97.3%. Our large-scale linkage analysis consolidates clear evidence for a susceptibility locus for LOAD on 10q21.2...
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's diseaseDenise Harold
Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK
Nat Genet 41:1088-93. 2009..5 x 10(-10), odds ratio = 0.86; rs3851179, P = 1.3 x 10(-9), odds ratio = 0.86)...
Effects of differential genotyping error rate on the type I error probability of case-control studiesValentina Moskvina
Bioinformatics and Biostatistics Unit, School of Medicine, Wales College of Medicine, Cardiff University, Cardiff, UK
Hum Hered 61:55-64. 2006....
Cis- and trans- loci influence expression of the schizophrenia susceptibility gene DTNBP1Nicholas J Bray
Department of Psychological Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
Hum Mol Genet 17:1169-74. 2008..Our data provide complementary evidence for chromosome 8p as a susceptibility locus for schizophrenia, and suggest that genetic variation within this region may influence risk, at least in part, through effects on DTNBP1 expression...
A comparison of four clustering methods for brain expression microarray dataAlexander L Richards
Department of Psychological Medicine, School of Medicine, University Hospital Wales, Heath Park, Cardiff, Wales, UK
BMC Bioinformatics 9:490. 2008..The results are compared on speed, gene coverage and GO enrichment. The effects of combining the clusters produced by each method are also assessed...
No association between the putative functional ZDHHC8 single nucleotide polymorphism rs175174 and schizophrenia in large European samplesBeate Glaser
Department of Psychological Medicine, Cardiff University, Cardiff, United Kingdom
Biol Psychiatry 58:78-80. 2005..It has been recently reported that a functional variant in the ZDHHC8 gene encoding a putative palmitoyltransferase directly confers susceptibility to schizophrenia in females ()...
Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptorN 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...
Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approachN 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)...
Molecular genetic contribution to the developmental course of attention-deficit hyperactivity disorderKate Langley
Department of Psychological Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
Eur Child Adolesc Psychiatry 18:26-32. 2009....
Bipolar disorder and polymorphisms in the dysbindin gene (DTNBP1)Rachel Raybould
Department of Psychological Medicine, Wales College of Medicine, Cardiff University, Cardiff, Wales, UK
Biol Psychiatry 57:696-701. 2005..We previously reported that variation at a specific 3-locus haplotype influences susceptibility to schizophrenia in a large United Kingdom (UK) Caucasian case-control sample...
A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brainNicholas J Bray
Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, CF14 4XN, Wales, UK
Am J Hum Genet 73:152-61. 2003....
No evidence of association between Catechol-O-Methyltransferase (COMT) Val158Met genotype and performance on neuropsychological tasks in children with ADHD: a case-control studySophie 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...
Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophreniaDetelina Grozeva
Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff CF14 4XN, Wales, UK
Arch Gen Psychiatry 67:318-27. 2010..The possible involvement of copy number variants (CNVs) in bipolar disorder has received little attention to date...
Mood-incongruent psychosis in bipolar disorder: conditional linkage analysis shows genome-wide suggestive linkage at 1q32.3, 7p13 and 20q13.31Marian L Hamshere
Department of Psychological Medicine, The Henry Wellcome Building for Biomedical Research in Wales, Cardiff, CF14 4XN, UK
Bipolar Disord 11:610-20. 2009..Findings in recent association studies at two specific genes suggest that the occurrence of mood-incongruent psychotic features may indicate a relatively homogeneous subset of the bipolar phenotype. We examined this hypothesis...
Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's diseaseDenise Harold
Department of Psychological Medicine, University of Wales College of Medicine, CF14 4XN, Cardiff, UK
Hum Genet 113:258-67. 2003..Levels of linkage disequilibrium were generally low across the CHAT locus but two of the coding variants, D7N and A120T, proved to be in complete linkage disequilibrium...
Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's diseaseA 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...
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophreniaGeorge Kirov
Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK
Hum Mol Genet 17:458-65. 2008..Both genes have been affected by CNVs in patients with autism and mental retardation, but neither has been previously implicated in SZ...
No evidence of association of two 5HT transporter gene polymorphisms and attention deficit hyperactivity disorderKate Langley
Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, UK
Psychiatr Genet 13:107-10. 2003..In an attempt to replicate these findings, we examined this polymorphism and a variable number tandem repeat in the second intron of 5-HTT for association with ADHD...
An update on the genetics of schizophreniaNadine Norton
Department of Psychological Medicine, Wales School of Medicine, Cardiff University, Heath Park, Cardiff, UK
Curr Opin Psychiatry 19:158-64. 2006..This paper reviews recent molecular genetic studies of schizophrenia and evaluates claims implicating specific genes as susceptibility loci...
Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexiaNatalie Cope
Department of Psychological Medicine, Wales College of Medicine, Cardiff University, Cardiff, United Kingdom
Am J Hum Genet 76:581-91. 2005..006 in trios; 1-degree-of-freedom tests). Our data strongly implicate KIAA0319 as a susceptibility gene for dyslexia. The gene product is expressed in brain, but its specific function is currently unknown...
Association analysis of two candidate phospholipase genes that map to the chromosome 15q15.1-15.3 region associated with reading disabilityD 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...
Association analysis of the glial cell line-derived neurotrophic factor (GDNF) gene in schizophreniaH 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...
Mutation screening of the Homer gene family and association analysis in schizophreniaN 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...
Analysis of copy number variation using quantitative interspecies competitive PCRNigel M Williams
Department of Psychological Medicine, Wales School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
Nucleic Acids Res 36:e112. 2008....
Linkage analysis of the genetic loci for high myopia on 18p, 12q, and 17q in 51 U.K. familiesJane E Farbrother
School of Optometry and Vision Sciences, Cardiff University, Cardiff, Wales, United Kingdom
Invest Ophthalmol Vis Sci 45:2879-85. 2004..Thus, additional loci for high myopia are likely to be the cause of the majority of cases of high myopia in the United Kingdom...
A full genome scan for late onset Alzheimer's diseaseP Kehoe
Neuropsychiatric Genetics Unit, Tenovus Building, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN, UK
Hum Mol Genet 8:237-45. 1999..Moreover, our data will be of interest to those hoping to identify positional candidate genes using information emerging from neurobiological studies of AD...
Repeat sizes at CAG/CTG loci CTG18.1, ERDA1 and TGC13-7a in schizophreniaT 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...
Detailed analysis of PRODH and PsPRODH reveals no association with schizophreniaH 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...
Genome wide significant linkage in schizophrenia conditioning on occurrence of depressive episodesM 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..093 times per genome scan, ILOD = 2.83). CONCLUSIONS: Our findings identify loci that may harbour genes that play a role in susceptibility to, or modify the risk of, episodes of major depression in people with schizophrenia...
Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic conceptM 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...
Interaction between the ADAM12 and SH3MD1 genes may confer susceptibility to late-onset Alzheimer's diseaseD 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)...
CUX2, a potential regulator of NCAM expression: genomic characterization and analysis as a positional candidate susceptibility gene for bipolar disorderN 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...
No association between apolipoprotein E polymorphisms and general cognitive ability in childrenD Turic
Neuropsychiatric Genetics Unit, Psychological Medicine, Tenovus Building, Heat Park, UWCM, Cardiff CF14 4XN, UK
Neurosci Lett 299:97-100. 2001..No evidence of association between these polymorphisms and g was found. We conclude that variation at these loci is not a factor with a measurable impact on general cognitive ability in the healthy population...
Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis. Molecular genetic studyD Ivanov
Neuropsychiatric Genetics Unit, Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, UK
Br J Psychiatry 183:409-13. 2003..None of the controls showed a pattern of genotypes consistent with hemizygosity. CONCLUSIONS: VCFS may be less frequent among patients with psychosis than previously suggested; this rate is not increased among early-onset patients...
Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's diseaseR Abraham
Department of Psychological Medicine, University of Wales College of Medicine, Cardiff CF14 4XN, Wales, UK
Hum Genet 109:646-52. 2001..We conclude that IDE does not make a substantial contribution to the aetiology of LOAD and therefore cannot account for the linkage between LOAD and 10q...
Evidence for association between polymorphisms in the promoter and coding regions of the 5-HT2A receptor gene and response to clozapineM J Arranz
Department of Psychological Medicine, Institute of Psychiatry, Denmark Hill, London, UK
Mol Psychiatry 3:61-6. 1998..These results provide further evidence suggesting that genetic variation at 5-HT2A receptors may influence clozapine response and strengthen the candidacy of these receptors as important therapeutic targets...
Direct analysis of the genes encoding G proteins G alpha T2, G alpha o, G alpha Z in ADHDD 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...
Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysisNigel M Williams
MRC Centre in Neuropsychiatric Genetics and Genomics and Department of Psychological Medicine and Neurology, Cardiff University School of Medicine, Cardiff, UK
Lancet 376:1401-8. 2010..We aimed to establish whether burden of CNVs was increased in ADHD, and to investigate whether identified CNVs were enriched for loci previously identified in autism and schizophrenia...
Genetic abnormalities of chromosome 22 and the development of psychosisNigel M Williams
Department of Psychological Medicine, Henry Wellcome Building for Biomedical Research, University of Wales College of Medicine, Cardiff CF14 4XN, Wales, UK
Curr Psychiatry Rep 6:176-82. 2004..However, although a number of genes have been implicated as possible schizophrenia susceptibility loci, further confirmatory studies are required...
Bipolar disorder among an isolated island community in EthiopiaAbebaw Fekadu
Department of Psychological Medicine, University of Wales College Medicine, Cardiff, UK
J Affect Disord 80:1-10. 2004..The Zeway islanders have lived in geographic and cultural isolation for over three centuries...
Further support for an association between a polymorphic CAG repeat in the hKCa3 gene and schizophreniaT 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...
Evidence that variation in the oligodendrocyte lineage transcription factor 2 (OLIG2) gene is associated with psychosis in Alzheimer's diseaseR 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)...
Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 2M 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...
