ArticleMolecular psychiatry2005
Identification of a potential bipolar risk haplotype in the gene encoding the winged-helix transcription factor RFX4.
Article in Molecular psychiatry, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 26 citations in OpenAlex.
- T cell reactivity to regulatory factor X4 in type 1 narcolepsy.Scientific reports · 2021Article
- Effect of Ionizing Radiation on Transcriptome during Neural Differentiation of Human Embryonic Stem Cells.Radiation research · 2020Article
- Integrative approach for inference of gene regulatory networks using lasso-based random featuring and application to psychiatric disorders.BMC medical genomics · 2016Article
- RNA-sequencing of the brain transcriptome implicates dysregulation of neuroplasticity, circadian rhythms and GTPase binding in bipolar disorder.Molecular psychiatry · 2014Article
- Polymorphisms in ABLIM1 are associated with personality traits and alcohol dependence.Journal of molecular neuroscience : MN · 2012Article
- Article
- Proteomics of dense core secretory vesicles reveal distinct protein categories for secretion of neuroeffectors for cell-cell communication.Journal of proteome research · 2010Article
- Candidate region linkage analysis in twins discordant or concordant for depression symptomatology.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2009Article
- Case-control studies show that a non-conservative amino-acid change from a glutamine to arginine in the P2RX7 purinergic receptor protein is associated with both bipolar- and unipolar-affective disorders.Molecular psychiatry · 2009Article
- The genetics of bipolar disorder: genome 'hot regions,' genes, new potential candidates and future directions.Molecular psychiatry · 2008Review
- G-protein pathway suppressor 2 (GPS2) interacts with the regulatory factor X4 variant 3 (RFX4_v3) and functions as a transcriptional co-activator.The Journal of biological chemistry · 2008Article
- Regulatory factor X4 variant 3: a transcription factor involved in brain development and disease.Journal of neuroscience research · 2007Review
- Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study.BMC medical genetics · 2007Article
- The association of DUSP6 gene with schizophrenia and bipolar disorder: its possible role in the development of bipolar disorder.Molecular psychiatry · 2006Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
The gene encoding the transcription factor RFX4 represents an excellent neurobiological and positional candidate gene for Bipolar disorder due to the potential involvement of RFX4 proteins in the regulation of circadian rhythms and the proximity of the locus to numerous linkage signals on chromosome 12q23. In this study we have sought to identify common variants within the gene, which might confer risk to the disease in our large UK Caucasian sample of Bipolar patients (676 DSMIV Bipolar I probands, 690 controls). RFX4 was screened for sequence variants and the LD block structure across the genomic region determined using 22 biallelic polymorphisms (minor allele frequency >or=0.1). Through analysis of 10 haplotype-tagging markers and using a two-stage approach (subset I: 347 cases, 374 controls; subset II: 329 cases, 316 controls), we identified a haplotype at rs10778502 and ss24735177, which showed nominally significant disease association in our full sample (haplotype-specific P=0.002, global P=0.017; subset I: haplotype-specific P=0.0002, global P=0.0008; subset II: haplotype-specific P=0.572, global P=0.109). Evidence for potential disease association with mutations across the RFX4 region came also from the analysis of the nearby microsatellite D12S2072 (empirical P=0.009 in our full sample). Investigation of RFX4 brain cDNA tagged by rs10778502 provided evidence for significant allelic differences in expression (P<0.001), 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.
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