Research Topics
Genomes and GenesSpecies | Francis McMahonSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Variation in the gene encoding the serotonin 2A receptor is associated with outcome of antidepressant treatmentFrancis J McMahon
Genetic Basis of Mood and Anxiety Disorders, National Institute of Mental Health NIMH, National Institutes of Health, Bethesda, MD 20892 3719, USA
Am J Hum Genet 78:804-14. 2006..Taken together with prior neurobiological findings, these new genetic data make a compelling case for a key role of HTR2A in the mechanism of antidepressant action...
Association of GRIK4 with outcome of antidepressant treatment in the STAR*D cohortSilvia Paddock
Genetic Basis of Mood and Anxiety Disorders, Mood and Anxiety Program, NIMH, NIH, Department of Health and Human Services, Bethesda, MD, USA
Am J Psychiatry 164:1181-8. 2007..The purpose of the present study was to utilize a second wave of genotype results, for a more powerful analysis, in the complete cohort of patients with available deoxyribonucleic acid (DNA) samples...- Nested association between genetic variation in tryptophan hydroxylase II, bipolar affective disorder, and suicide attemptsVictor A Lopez
Genetic Basis of Mood and Anxiety Disorders, Mood and Anxiety Program, National Institutes of Health, US Department of Health and Human Services, Bethesda, Maryland, USA
Biol Psychiatry 61:181-6. 2007..No studies have examined TPH2 in large samples of subjects with BPAD and suicide attempts (SA). We tested for a relationship between genetic variation in TPH2 and risk for BPAD and SA in a large family sample... - Association between a functional serotonin transporter promoter polymorphism and citalopram treatment in adult outpatients with major depressionXian Zhang Hu
Section on Molecular Genetics, Laboratory of Neurogenetics, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, MD 20892, USA
Arch Gen Psychiatry 64:783-92. 2007.... - Loci on chromosomes 6q and 6p interact to increase susceptibility to bipolar affective disorder in the national institute of mental health genetics initiative pedigreesThomas G Schulze
Genetic Basis of Mood and Anxiety Disorders, Mood and Anxiety Program, Bethesda, USA
Biol Psychiatry 56:18-23. 2004.... - A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sampleSilvia Buervenich
Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden
Arch Neurol 62:74-8. 2005..In a previous study, significant association of an ADH class IV allele with Parkinson disease (PD) was found in a Swedish sample... - Genetic markers of suicidal ideation emerging during citalopram treatment of major depressionGonzalo Laje
Genetic Basis of Mood and Anxiety Disorders, NIMH, 35 Convent Dr, Rm 1A207, Bethesda, MD 20892 3719, USA
Am J Psychiatry 164:1530-8. 2007..Genetic markers may shed light on the causes of treatment-emergent suicidal ideation and help identify individuals at high risk who may benefit from closer monitoring, alternative treatments, or specialty care... - Sequence variation in DOCK9 and heterogeneity in bipolar disorderSevilla D Detera-Wadleigh
Genetic Basis of Mood and Anxiety Disorders, Mood and Anxiety Program, National Institute of Mental Health Intramural Research Program, National Institutes of Health U S DHHS, 35 Convent Drive, Bethesda, MD 20892, USA
Psychiatr Genet 17:274-86. 2007..Subsequent reports have shown that variations in the DAOA (G72) locus on 13q33 display association with bipolar disorder but these may not account for all of the linkage evidence in the region... - Genetic association studies in mood disorders: issues and promiseSevilla D Detera-Wadleigh
Mood and Anxiety Disorders Program, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland 20892 3719, USA
Int Rev Psychiatry 16:301-10. 2004..Relating associated variants to the phenotype represents the next critical step toward establishing the pathogenic role of gene variants in mood disorders... - Parental diagnoses in youth with narrow phenotype bipolar disorder or severe mood dysregulationMelissa A Brotman
Emotion and Development Branch and the Genetic Basis of Mood and Anxiety Disorders Unit, Mood and Anxiety Disorders Program, NIMH, NIH, Department of Health and Human Services, Bethesda, MD 20892, USA
Am J Psychiatry 164:1238-41. 2007..The authors compared axis I diagnoses in parents of children with narrow phenotype bipolar disorder and parents of youth with severe mood dysregulation... - G72/G30 in schizophrenia and bipolar disorder: review and meta-analysisSevilla D Detera-Wadleigh
National Institute of Mental Health Intramural Research Program, National Institutes of Health, U S Department of Health and Human Services, Bethesda, Maryland 20892 3719, USA
Biol Psychiatry 60:106-14. 2006..The association findings in the G72/G30 region, among the most compelling in psychiatry, may expose an important molecular pathway involved in susceptibility to schizophrenia and bipolar disorder... - Familiality of polarity at illness onset in bipolar affective disorderLayla Kassem
Genetic Basis of Mood and Anxiety Disorders, National Institutes of Health, 35 Convent Dr, Rm 1A202 MSC 3616, Bethesda, MD 20809 3616, USA
Am J Psychiatry 163:1754-9. 2006..The authors sought to establish whether polarity at illness onset, which is related to severity and course, is a familial feature of bipolar affective disorder... - The International Consortium on Lithium Genetics (ConLiGen): an initiative by the NIMH and IGSLI to study the genetic basis of response to lithium treatmentThomas G Schulze
Genetic Basis of Mood and Anxiety Disorders, National Institute of Mental Health, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892 3719, USA
Neuropsychobiology 62:72-8. 2010..A stringent phenotype definition of response is one of the hallmarks of this collaboration. ConLiGen invites all lithium researchers to join its efforts... - Bcl-2 polymorphism influences gray matter volume in the ventral striatum in healthy humansGiacomo Salvadore
Mood and Anxiety Disorders Program, National Institute of Mental Health, Department of Health and Human Services, Bethesda, Maryland 20892, USA
Biol Psychiatry 66:804-7. 2009..We tested the hypothesis that this SNP would modulate gray matter (GM) volume in the limbic-cortical-striatal-pallidal-thalamic circuitry that plays major roles in mood regulation... - Genome-wide association study of suicidal ideation emerging during citalopram treatment of depressed outpatientsGonzalo Laje
Genetic Basis of Mood and Anxiety Disorders Unit, National Institute of Mental Health, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
Pharmacogenet Genomics 19:666-74. 2009.... 
Pharmacogenetics studies in STAR*D: strengths, limitations, and resultsGonzalo Laje
Genetic Basis of Mood and Anxiety Disorders Unit, National Institute of Mental Health, Bethesda, MD 20892, USA
Psychiatr Serv 60:1446-57. 2009..Replication of these findings in independent samples could lead to the development of new treatments and to optimization of available treatments...- The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populationsJohannes Schumacher
Unit on the Genetic Basis of Mood and Anxiety Disorders, National Institute of Mental Health, National Institutes of Health, US Department of Health and Human Services, Bethesda, MD 20892 3719, USA
Hum Mol Genet 18:2719-27. 2009..Furthermore, our phenotype-genotype results--including the consideration of sex-specific effects--highlight the value of homogenous samples in mapping risk genes for schizophrenia in general, and at the DISC locus in particular... - Genetic variation in HTR2A influences serotonin transporter binding potential as measured using PET and [11C]DASBGonzalo Laje
Unit on the Genetic Basis of Mood and Anxiety Disorders, National Institute of Mental Health, Bethesda, MD 20892 3719, USA
Int J Neuropsychopharmacol 13:715-24. 2010.... - Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1Francis J McMahon
Unit on the Genetic Basis of Mood and Anxiety Disorders, National Institute of Mental Health, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
Nat Genet 42:128-31. 2010..83-0.92), with supportive evidence for association observed in two out of three independent replication cohorts. These results provide an example of a shared genetic susceptibility locus for bipolar disorder and MDD... - A genome-wide association study of amygdala activation in youths with and without bipolar disorderXinmin Liu
National Institute of Mental Health, Bethesda, MD 20892, USA
J Am Acad Child Adolesc Psychiatry 49:33-41. 2010..We undertook a genome-wide association study to explore the genetic architecture of this neuroimaging phenotype... - The pharmacogenetics of major depression: past, present, and futureGonzalo Laje
Genetic Basis of Mood and Anxiety Disorders Unit, Mood and Anxiety Program, National Institute of Mental Health, Bethesda, MD 20892, USA
Biol Psychiatry 62:1205-7. 2007 - Association study of phosphodiesterase genes in the Sequenced Treatment Alternatives to Relieve Depression sampleMichael Cabanero
Genetic Basis of Mood and Anxiety Disorders, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20892 3719, USA
Pharmacogenet Genomics 19:235-8. 2009..We conclude that PDE11A, PDE9A, and PDE1A are unlikely to play an important role in antidepressant outcome in this sample... - Familial aggregation of postpartum mood symptoms in bipolar disorder pedigreesJennifer L Payne
Department of Psychiatry, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA
Bipolar Disord 10:38-44. 2008..We sought to determine if postpartum mood symptoms and depressive episodes exhibit familial aggregation in bipolar I pedigrees... - 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... - 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... - Genome-wide parametric linkage analyses of 644 bipolar pedigrees suggest susceptibility loci at chromosomes 16 and 20Jessica Ross
Department of Psychiatry, University of California, San Francisco, CA 94132 0984, USA
Psychiatr Genet 18:191-8. 2008..Our aim is to map chromosomal regions that harbor loci that increase susceptibility to bipolar disorder... - Association study of Wnt signaling pathway genes in bipolar disorderPeter P Zandi
Department of Mental Health, Bloomberg School of Public Health, Johns Hopkins University, Hampton House, Room 857, 624 N Broadway, Baltimore, MD 21205, USA
Arch Gen Psychiatry 65:785-93. 2008..The Wnt signaling pathways promote cell growth and are best known for their role in embryogenesis and cancer. Several lines of evidence suggest that these pathways might also be involved in bipolar disorder... - The FKBP5-gene in depression and treatment response--an association study in the Sequenced Treatment Alternatives to Relieve Depression (STAR*D) CohortMagnus Lekman
Department of Neuroscience, Karolinska Institute, Stockholm, Sweden
Biol Psychiatry 63:1103-10. 2008..The present study aimed at studying the associated FKBP5 markers in the ethnically diverse Sequenced Treatment Alternatives to Relieve Depression (STAR*D) sample of non-hospitalized patients treated with citalopram... - Neurotransmission and bipolar disorder: a systematic family-based association studyJiajun Shi
Department of Psychiatry, University of Chicago, Chicago, Illinois 60637, USA
Am J Med Genet B Neuropsychiatr Genet 147:1270-7. 2008.... - Clock genes may influence bipolar disorder susceptibility and dysfunctional circadian rhythmJiajun Shi
Department of Psychiatry, University of Chicago, Chicago, Illinois 60637, USA
Am J Med Genet B Neuropsychiatr Genet 147:1047-55. 2008..00000172). It remains significant after correcting for multiple testing using the False Discovery Rate method. Our results indicate an interaction between three circadian genes in susceptibility to bipolar disorder... - A success at the end of an era, and a glimpse of things to comeFrancis J McMahon
Am J Psychiatry 164:999-1001. 2007 - Can long-range microsatellite data be used to predict short-range linkage disequilibrium?Thomas G Schulze
Department of Psychiatry, The University of Chicago, Chicago, IL 60637, USA
Hum Mol Genet 11:1363-72. 2002.... - Frequency Finder: a multi-source web application for collection of public allele frequencies of SNP markersTu H Nguyen
Department of Psychiatry, University of Chicago, IL 60616, USA
Bioinformatics 20:439-43. 2004..While limited to public databases that provide web-based access to allele frequencies, Frequency Finder provides a single, user-friendly interface for retrieving allele frequencies for large batches of SNPs from multiple data sources... - Defining haplotype blocks and tag single-nucleotide polymorphisms in the human genomeThomas G Schulze
Dicvision of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health ZI, 68159 Mannheim, Germany
Hum Mol Genet 13:335-42. 2004..More information is needed to guide the choice of method, marker allele frequencies, and parameters in the development of a haplotype map... - 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... - Genetic linkage and association studies in bipolar affective disorder: a time for optimismThomas G Schulze
Division of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Mannheim, Germany
Am J Med Genet C Semin Med Genet 123:36-47. 2003..Once these genes are identified, genetic mapping methods will yield to the other methods of 21st-century molecular biology as we begin to elucidate the pathophysiology of BPAD... - Genome scan of a second wave of NIMH genetics initiative bipolar pedigrees: chromosomes 2, 11, 13, 14, and XPeter P Zandi
Department of Mental Hygiene, Bloomberg School of Public Health, The Johns Hopkins University, Baltimore, Maryland 21204, USA
Am J Med Genet B Neuropsychiatr Genet 119:69-76. 2003..Large samples such as that being collected by the NIMH Initiative will be necessary to examine the heterogeneity and identify these susceptibility genes... - 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.... - Additional, physically ordered markers increase linkage signal for bipolar disorder on chromosome 18q22Thomas G Schulze
Department of Psychiatry, The University of Chicago, Chicago, Illinois, USA
Biol Psychiatry 53:239-43. 2003..Our data suggest that a dense set of markers, when physically ordered, can increase the informational value of genetic linkage signals... - Familial aggregation of psychotic symptoms in a replication set of 69 bipolar disorder pedigreesJames B Potash
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Am J Med Genet B Neuropsychiatr Genet 116:90-7. 2003..Families with this subtype should be used to search for susceptibility genes common to bipolar disorder and schizophrenia, and for biological markers that may be shared with schizophrenia... - Diagnostic reliability of bipolar II disorderSylvia G Simpson
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, MD, USA
Arch Gen Psychiatry 59:736-40. 2002.... - Lack of support for a genetic association of the XBP1 promoter polymorphism with bipolar disorder in probands of European originSven Cichon
Nat Genet 36:783-4; author reply 784-5. 2004 - Neither single-marker nor haplotype analyses support an association between genetic variation near NOTCH4 and bipolar disorderSridhar Prathikanti
Department of Psychiatry, University of Chicago, Chicago, Illinois 60615, USA
Am J Med Genet B Neuropsychiatr Genet 131:10-5. 2004..These results do not support an association between genetic variation near NOTCH4 and BPAD in this sample... - Mood-incongruent psychotic features in bipolar disorder: familial aggregation and suggestive linkage to 2p11-q14 and 13q21-33Fernando S Goes
Johns Hopkins Hospital, 600 North Wolfe St, Meyer 4 119, Baltimore, MD 21287 7419, USA
Am J Psychiatry 164:236-47. 2007..This study attempts to characterize clinical correlates, familial aggregation, and genetic linkage in subjects with these features... - Defining the phenotype in human genetic studies: forward genetics and reverse phenotypingThomas G Schulze
Division of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, University of Heidelberg, Mannheim, Germany
Hum Hered 58:131-8. 2004..The stakes are high, since the success of gene mapping in genetically complex disorders hinges on the ability to delineate the target phenotype with accuracy and precision... - Familial variation in episode frequency in bipolar affective disorderMaria E Fisfalen
Department of Psychiatry, Mount Sinai Medical Center, Rosalind Franklin University of Medicine and Science, California at 15th Street, Chicago, IL 60608, USA
Am J Psychiatry 162:1266-72. 2005..The authors analyzed the recurrence frequency of affective episodes (episode frequency), along with associated clinical and demographic variables, in families with at least three members with a major affective disorder... - What is familial about familial bipolar disorder? Resemblance among relatives across a broad spectrum of phenotypic characteristicsThomas G Schulze
Division of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, University of Heidelberg, 15, 68159 Mannheim, Germany
Arch Gen Psychiatry 63:1368-76. 2006..Familial features of bipolar disorder should help define more homogeneous subtypes, but there are few data indicating which clinical features of bipolar disorder are the most familial... - The bipolar disorder phenome database: a resource for genetic studiesJames B Potash
Department of Psychiatry, Johns Hopkins School of Medicine, Baltimore, MD 21287 7419, USA
Am J Psychiatry 164:1229-37. 2007..The purpose of this study was to assemble and validate a database of phenotypic variables that were collected from families with bipolar disorder as a resource for genetic and other biological studies... - Attempted suicide in bipolar disorder pedigrees: evidence for linkage to 2p12Virginia L Willour
Department of Psychiatry and Behaviorial Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
Biol Psychiatry 61:725-7. 2007..We are interested in identifying susceptibility genes that predispose subjects to attempted suicide... - Genotype-phenotype studies in bipolar disorder showing association between the DAOA/G30 locus and persecutory delusions: a first step toward a molecular genetic classification of psychiatric phenotypesThomas G Schulze
Division of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health J5, 68159 Mannheim, Germany
Am J Psychiatry 162:2101-8. 2005.... - Rapid mood switching and suicidality in familial bipolar disorderDean F MacKinnon
Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
Bipolar Disord 7:441-8. 2005.... - Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorderRicardo Segurado
Neuropsychiatric Genetics Unit, Department of Genetics, Trinity College, Dublin 2, Ireland
Am J Hum Genet 73:49-62. 2003..We note that meta-analysis can sometimes provide support for linkage but cannot disprove linkage in any candidate region... - Genomewide linkage analyses of bipolar disorder: a new sample of 250 pedigrees from the National Institute of Mental Health Genetics InitiativeDanielle M Dick
Institute of Psychiatric Research, Indiana University School of Medicine, 791 Union Drive, Indianapolis, IN 46202-4887, USA
Am J Hum Genet 73:107-14. 2003..10), on chromosomes 2p, 3q, and 8q. This study, which is based on the largest linkage sample for bipolar disorder analyzed to date, indicates that several genes contribute to bipolar disorder... - Genome scan of the fifty-six bipolar pedigrees from the NIMH genetics initiative replication sample: chromosomes 4, 7, 9, 18, 19, 20, and 21Virginia L Willour
The Johns Hopkins University, Baltimore, Maryland 21287, USA
Am J Med Genet B Neuropsychiatr Genet 121:21-7. 2003..38, which exceeds standard criteria for suggestive linkage, and a corresponding parametric HLOD score of 2.98. The combined analysis did not provide further support for linkage to 4q32 and 4q35... - Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8qMatthew B McQueen
Harvard School of Public Health, Department of Epidemiology, Boston, MA 02115, USA
Am J Hum Genet 77:582-95. 2005..Our results establish genomewide significant linkage to BP on chromosomes 6q and 8q, which provides solid information to guide future gene-finding efforts that rely on fine-mapping and association approaches... - Genetic association mapping at the crossroads: which test and why? Overview and practical guidelinesThomas G Schulze
Department of Psychiatry, The University of Chicago, Chicago, Illinois 60637, USA
Am J Med Genet 114:1-11. 2002..We present an overview of the development of genetic association tests, with practical guidelines on which test might be the most suitable for a given study... - Using duplicate genotyped data in genetic analyses: testing association and estimating error ratesNathan L Tintle
Hope College, USA
Stat Appl Genet Mol Biol 6:Article4. 2007..Power increases ranged from 0.776% to 4.652% for 80% powered tests and 0.292% to 2.028% for 95% powered tests. Researchers now can compute the value of the duplicate genotyped data as part of the design of the study...
Research Grants
- GENETIC LINKAGE STUDIES IN BIPOLAR DISORDERSFrancis McMahon; Fiscal Year: 2000..The enlargement, continued maintenance, and analysis of this unique family resource is important to the field and will form the basis for many future studies. ..
- GENETIC LINKAGE STUDIES IN BIPOLAR DISORDERSFrancis McMahon; Fiscal Year: 2001..The enlargement, continued maintenance, and analysis of this unique family resource is important to the field and will form the basis for many future studies. ..