Research Topics
Genomes and Genes
| Dimitrios AvramopoulosSummaryAffiliation: Johns Hopkins University Country: USA Publications
Research Grants
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Detail Information
Publications
Genetics of Alzheimer's disease: recent advancesDimitrios Avramopoulos
McKusick Nathans Institute of Genetic Medicine and Department of Psychiatry, Johns Hopkins University School of Medicine, Broadway Research Building Room 509, 733 N Broadway, Baltimore, MD 21205, USA
Genome Med 1:34. 2009....- Association of RGS4 variants with schizotypy and cognitive endophenotypes at the population levelNicholas C Stefanis
University Mental Health Research Institute, Athens, Greece
Behav Brain Funct 4:46. 2008..abstract:.. 
A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's diseaseDimitrios Avramopoulos
Department of Psychiatry, School of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
Neurogenetics 8:111-20. 2007..Comparison of primate and other mammal genomes suggests that ASAH2L is human specific. Further research would be necessary to determine the function of the ASAH2L transcript and explore any possible involvement in neurodegeneration...- Testing groups of genomic locations for enrichment in disease loci using linkage scan data: a method for hypothesis testingDimitrios Avramopoulos
Department of Psychiatry, The Johns Hopkins University, School of Medicine, Broadway Research Building 509, 733 North Broadway, Baltimore, MD 21205, USA
Hum Genomics 2:345-52. 2006..We present an application of the method to real data from a late-onset Alzheimer's disease linkage scan as a proof of principle... - Linkage of bipolar affective disorder on chromosome 8q24: follow-up and parametric analysisD Avramopoulos
Department of Psychiatry, Johns Hopkins University, School of Medicine, North Wolfe Street, Baltimore, MD 21287, USA
Mol Psychiatry 9:191-6. 2004..Biologically, plausible candidate genes in this region include thyroglobulin, KCNQ3 coding for a voltage-gated potassium channel and the gene for brain adenyl-cyclase (ADCY8)... - Genetics of psychiatric disorders methods: molecular approachesDimitrios Avramopoulos
Department of Psychiatry, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA
Psychiatr Clin North Am 33:1-13. 2010.... - Linkage to chromosome 14q in Alzheimer's disease (AD) patients without psychotic symptomsDimitrios Avramopoulos
The Johns Hopkins University, Department of Psychiatry, School of Medicine, Meyer 4 Room 139, 600 N Wolfe St, Baltimore, MD 21287, USA
Am J Med Genet B Neuropsychiatr Genet 132:9-13. 2005..This region requires further study to replicate the finding and identify the genetic variant responsible for the linkage... 
Genetics of psychiatric disorders methods: molecular approachesDimitrios Avramopoulos
Department of Psychiatry, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, BRB 509, 733 North Broadway, Baltimore, MD 21205, USA
Clin Lab Med 30:815-27. 2010....- Linkage and association on 8p21.2-p21.1 in schizophreniaM Daniele Fallin
Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA
Am J Med Genet B Neuropsychiatr Genet 156:188-97. 2011..2007. Proteomics 7(7):1131–1139; Paulson et al. 2004. Proteomics 4(3):819–825]. Taken together, this work further supports DPYSL2 and the surrounding genomic region as a susceptibility locus for SZ... - SNP fine mapping of chromosome 8q24 in bipolar disorderPeter P Zandi
Department of Mental Health, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland 21205, USA
Am J Med Genet B Neuropsychiatr Genet 144:625-30. 2007..Several other interesting candidate genes are also located nearby. The congruence of findings across methods and samples suggests further investigation is warranted in these two targeted regions... - Genome-wide linkage and follow-up association study of postpartum mood symptomsPamela Belmonte Mahon
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, MD, USA
Am J Psychiatry 166:1229-37. 2009..The authors then fine-mapped their best linkage regions, assessing single nucleotide polymorphisms (SNPs) for genetic association with postpartum symptoms... - Familiality of novel factorial dimensions of schizophreniaJohn A McGrath
Department of Psychiatry, The Johns Hopkins University School of Medicine, 1820 Lancaster St, Ste 300, Baltimore, MD 21231, USA
Arch Gen Psychiatry 66:591-600. 2009..Examination of familiality of factor scores can demonstrate whether they are likely to be of use in genetic research... - Stage II follow-up on a linkage scan for bipolar disorder in the Ashkenazim provides suggestive evidence for chromosome 12p and the GRIN2B geneDimitrios Avramopoulos
Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland 21231, USA
Genet Med 9:745-51. 2007..This study is a second stage follow-up focusing on regions that showed positive linkage scores in our previous scan but were not fine-mapped at that time... - Replication of an association of a common variant in the Reelin gene (RELN) with schizophrenia in Ashkenazi Jewish womenYaping Liu
Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Psychiatr Genet 20:184-6. 2010..Furthermore, we explore the effects of this polymorphism through quantitative trait loci analysis of nine SZ related factors providing information on sex-specific genotype--phenotype correlations... - Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophreniaPei Lung Chen
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Am J Hum Genet 84:21-34. 2009..These biological properties together with our linkage and association results strongly support NRG3 as a gene involved in SZ... - Gene-based SNP mapping of a psychotic bipolar affective disorder linkage region on 22q12.3: association with HMG2L1 and TOM1James B Potash
Department of Psychiatry, Johns Hopkins University, Baltimore, Maryland 21287 7419, USA
Am J Med Genet B Neuropsychiatr Genet 147:59-67. 2008..Further work is needed to confirm these results and uncover the functional variation underlying the association signal... - Further evidence of a maternal parent-of-origin effect on chromosome 10 in late-onset Alzheimer's diseaseSusan Spear Bassett
Department of Psychiatry, Johns Hopkins University, Baltimore, Maryland, USA
Am J Med Genet B Neuropsychiatr Genet 141:537-40. 2006.... - Family-based association of FKBP5 in bipolar disorderV L Willour
Department of Psychiatry, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA
Mol Psychiatry 14:261-8. 2009..Ongoing whole-genome association studies in bipolar disorder and major depression should further clarify the role of FKBP5 and other HPA genes in these illnesses... - Fine mapping of the chromosome 10q11-q21 linkage region in Alzheimer's disease cases and controlsMargaret Daniele Fallin
Department of Epidemiology, Johns Hopkins University, Bloomberg School of Public Health, Baltimore, MD 21205, USA
Neurogenetics 11:335-48. 2010..Acquiring additional support and clarifying the mechanisms of such involvement is important for AD and other complex disorder genetics research... - SynaptomeDB: an ontology-based knowledgebase for synaptic genesMehdi Pirooznia
Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, MD, USA
Bioinformatics 28:897-9. 2012..SynaptomeDB integrates various and complex data sources for synaptic genes and proteins... - Genome-wide scan and conditional analysis in bipolar disorder: evidence for genomic interaction in the National Institute of Mental Health genetics initiative bipolar pedigreesMelvin G McInnis
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, 21287-7463, USA
Biol Psychiatry 54:1265-73. 2003..Application of conditional analyses is potentially useful in larger sample collections to identify susceptibility genes of modest influence that may not be identified in a genome-wide scan aimed to identify single gene effects... - Neuroglobin and Alzheimer's dementia: genetic association and gene expression changesMegan Szymanski
McKusick Nathans Institute of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
Neurobiol Aging 31:1835-42. 2010..We speculate that a compromised response due to DNA variation might increase the risk for AD. Our and others' data strongly support the involvement of NGB in AD... - Orientation, distance, regulation and function of neighbouring genesAdrian Gherman
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD 21205, USA
Hum Genomics 3:143-56. 2009..Further, we provide extensive graphical representations of the genome-wide data to allow for observations and comparisons beyond what we address... - Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent triosM Daniele Fallin
Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21231, USA
Am J Hum Genet 77:918-36. 2005..They provide further support for shared genetic susceptibility between these two disorders that involve glutamate-signaling pathways... - Family-based SNP association study on 8q24 in bipolar disorderPeter P Zandi
Department of Mental Health, Johns Hopkins School of Public Health, Baltimore, Maryland 21205, USA
Am J Med Genet B Neuropsychiatr Genet 147:612-8. 2008..These findings with ADCY8 and ST3GAL1 warrant further investigation in order to confirm the observed associations and their functional significance for BP susceptibility... - Evidence for parent of origin effect in late-onset Alzheimer diseaseSusan Spear Bassett
Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Am J Med Genet 114:679-86. 2002.... - Suggestive linkage to chromosomal regions 13q31 and 22q12 in families with psychotic bipolar disorderJames B Potash
Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, USA
Am J Psychiatry 160:680-6. 2003.... - Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorderPamela Belmonte Mahon
Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland 21205, USA
Am J Med Genet B Neuropsychiatr Genet 156:370-8. 2011..8 years in age at onset. Age at onset and psychotic symptoms in BP may be influenced by many genes of smaller effect sizes or other variants not measured well by SNP arrays, such as rare alleles... - Gene expression reveals overlap between normal aging and Alzheimer's disease genesDimitrios Avramopoulos
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, School of Medicine, 733 N Broadway, Baltimore, MD, USA
Neurobiol Aging 32:2319.e27-34. 2011..This result supports an overlap between the biological processes of normal aging and susceptibility to AD and suggests that age related genes expression changes might increase the risk of developing AD... - Genetic association of bipolar disorder with the β(3) nicotinic receptor subunit geneSarah M Hartz
Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri, USA
Psychiatr Genet 21:77-84. 2011.... - Exonic DNA sequencing of ERBB4 in bipolar disorderFernando S Goes
Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland, United States of America
PLoS ONE 6:e20242. 2011..However, the modest sample size in this study cannot definitively rule out a role for rare variants in bipolar disorder and studies with larger sample sizes are needed to confirm the observed association... - Premenstrual mood symptoms: study of familiality and personality correlates in mood disorder pedigreesJennifer L Payne
Department of Psychiatry and Behavioral Sciences, School of Medicine, Johns Hopkins University, 550 N Broadway, Baltimore, MD 21205, USA
Arch Womens Ment Health 12:27-34. 2009..Limitations include the retrospective interview, the lack of data on premenstrual dysphoric disorder, and the inability to control for factors such as medication use... - Brain activation in offspring of AD cases corresponds to 10q linkageSusan Spear Bassett
Department of Psychiatry, School of Medicine, Johns Hopkins University, Baltimore, MD 21287, USA
Ann Neurol 58:142-6. 2005..These results suggest the possibility that activation patterns may prove useful as a preclinical quantitative trait related to the putative familial late-onset AD gene in this chromosome 10 region... - Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease geneNara L M Sobreira
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
PLoS Genet 6:e1000991. 2010..This combination of a new technology and a classical genetic approach provides a powerful strategy to discover the genes responsible for unexplained Mendelian disorders... - Rh and ABO maternal-fetal incompatibility and risk of autismPeter P Zandi
Department of Mental Health, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland 21205, USA
Am J Med Genet B Neuropsychiatr Genet 141:643-7. 2006..Furthermore, we did not find any evidence for the presence of a high-risk susceptibility allele at or near these two loci operating either through the mother or child... - Interaction between FEZ1 and DISC1 in regulation of neuronal development and risk for schizophreniaEunchai Kang
Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Neuron 72:559-71. 2011..Our findings support a model in which DISC1 regulates distinct aspects of neuronal development through its interaction with different intracellular partners and such epistasis may contribute to increased risk for schizophrenia... - Glutathione pathway gene variation and risk of autism spectrum disordersKatherine Bowers
Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, 615 N Wolfe St room W6509, Baltimore, MD, 21205, USA
J Neurodev Disord 3:132-43. 2011..These results suggest that variation in genes involved in counterbalancing oxidative stress may contribute to autism, though replication is necessary... - Do treatment effects vary among differing baseline depression criteria in depression in Alzheimer's disease study ± 2 (DIADS-2)?Lea T Drye
Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA
Int J Geriatr Psychiatry 26:573-83. 2011..To determine if the effect of sertraline in the depression in Alzheimer's disease study - 2 (DIADS-2) differed in subgroups of patients defined by baseline depression criteria... - Results of a high-resolution genome screen of 437 Alzheimer's disease familiesDeborah Blacker
Massachusetts General Hospital, Charlestown, MA, USA
Hum Mol Genet 12:23-32. 2003..Although some of these will surely prove to be false positives, these linkage signals should provide a valuable framework for future studies aimed at identifying additional susceptibility genes for late-onset AD... - 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... - COMT Val158Met moderation of stress-induced psychosisNicholas C Stefanis
Division of Psychological Medicine, Institute of Psychiatry, London, UK
Psychol Med 37:1651-6. 2007..This study aimed to investigate whether a functional polymorphism in the catechol-O-methyltransferase (COMT Val(158)Met) gene moderates the psychosis-inducing effects of stress... - Impact of schizophrenia candidate genes on schizotypy and cognitive endophenotypes at the population levelNicholas C Stefanis
University Mental Health Research Institute, National and Kapodistrian University of Athens, Athens, Greece
Biol Psychiatry 62:784-92. 2007..It is unknown whether the expression of these endophenotypes at the population level is modulated by the genetic variability of candidate susceptibility genes for schizophrenia... - 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... - Variation in catechol-o-methyltransferase val158 met genotype associated with schizotypy but not cognition: a population study in 543 young menNicholas C Stefanis
Department of Psychiatry, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece
Biol Psychiatry 56:510-5. 2004.... - Effect of COMT Val158Met polymorphism on the Continuous Performance Test, Identical Pairs Version: tuning rather than improving performanceNicholas C Stefanis
Department of Psychiatry, National and Kapodistrian University of Athens Medical School, Eginition Hospital, 74 Vas Sofias Ave, Athens 11528, Greece
Am J Psychiatry 162:1752-4. 2005..The authors' goal was to determine whether, in confirmation of this prediction, performance on a measure of cognitive stability would be associated with Met loading... - Effect of schizotypy on cognitive performance and its tuning by COMT val158 met genotype variations in a large population of young menNikolaos Smyrnis
University Mental Health Research Institute, Psychiatry Department, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece
Biol Psychiatry 61:845-53. 2007..The relation of schizotypy and state psychopathology to cognitive performance and its link to catechol-O-methyltransferase (COMT) val(158) met genotype variations was studied in a large sample of young men... - Genetic association between the phospholipase A2 gene and unipolar affective disorder: a multicentre case-control studyGeorge N Papadimitriou
Athens University Medical School, Department of Psychiatry, Eginition Hospital, Athens, Greece
Psychiatr Genet 13:211-20. 2003..02). These findings suggest that structural variations at the PLA2 gene or the chromosomal region around it may confer susceptibility for unipolar affective disorder...
Research Grants
- Identification of genetic determinants of schizophrenia related phenotypesDimitrios Avramopoulos; Fiscal Year: 2010....
- Gene detection in regions linked to Alzheimer's diseaseDimitrios Avramopoulos; Fiscal Year: 2007..abstract_text> ..
- Gene detection in regions linked to Alzheimer's diseaseDimitrios Avramopoulos; Fiscal Year: 2009..abstract_text> ..
- 1/2 Schizophrenia Heterogeneity and Toxoplasma ExposureDimitrios Avramopoulos; Fiscal Year: 2011....