A high proportion of polymorphisms in the promoters of brain expressed genes influences transcriptional activity.

PubWeight™: 1.15‹?› | Rank: Top 10%

🔗 View Article (PMID 15511631)

Published in Biochim Biophys Acta on November 05, 2004

Authors

Paul R Buckland1, Bastiaan Hoogendoorn, Carol A Guy, Sharon L Coleman, S Kaye Smith, Joseph D Buxbaum, Vahram Haroutunian, Michael C O'Donovan

Author Affiliations

1: Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK. buckland@cardiff.ac.uk

Articles citing this

Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios. Am J Hum Genet (2005) 3.03

Ancient and recent positive selection transformed opioid cis-regulation in humans. PLoS Biol (2005) 2.37

The genetics of regulatory variation in the human genome. Hum Genomics (2005) 2.05

Cis-regulatory variations: a study of SNPs around genes showing cis-linkage in segregating mouse populations. BMC Genomics (2006) 1.53

Neuropeptide Y gene polymorphisms confer risk of early-onset atherosclerosis. PLoS Genet (2009) 1.20

Using reporter gene assays to identify cis regulatory differences between humans and chimpanzees. Genetics (2007) 1.18

Human NPY promoter variation rs16147:T>C as a moderator of prefrontal NPY gene expression and negative affect. Hum Mutat (2010) 1.06

Genetic Association of NPY Gene Polymorphisms with Dampness-Phlegm Pattern in Korean Stroke Patients. Evid Based Complement Alternat Med (2011) 0.99

Rescue of neurons from ischemic injury by peroxisome proliferator-activated receptor-gamma requires a novel essential cofactor LMO4. J Neurosci (2008) 0.95

Neuropeptide Y promoter polymorphism modifies effects of a weight-loss diet on 2-year changes of blood pressure: the preventing overweight using novel dietary strategies trial. Hypertension (2012) 0.94

Altered functional protein networks in the prefrontal cortex and amygdala of victims of suicide. PLoS One (2012) 0.91

Prediction of functional regulatory SNPs in monogenic and complex disease. Hum Mutat (2011) 0.85

Polymorphisms in the neuropeptide Y gene and the risk of obesity: findings from two prospective cohorts. J Clin Endocrinol Metab (2011) 0.83

NEFL mRNA expression level is a prognostic factor for early-stage breast cancer patients. PLoS One (2012) 0.80

What is a functional genetic polymorphism? Defining classes of functionality. J Psychiatry Neurosci (2011) 0.76

Ablation of LMO4 in glutamatergic neurons impairs leptin control of fat metabolism. Cell Mol Life Sci (2011) 0.75

Allelic Imbalance in TOR1A mRNA Expression in Manifesting and Non-Manifesting Carriers of the GAG-Deletion. J Nucleic Acids (2012) 0.75

Neuropeptide Y Gene Promoter -399T/C Polymorphism Increases Risk of Ischemic Stroke. Balkan Med J (2013) 0.75

Neuropeptide Y genotype, central obesity, and abdominal fat distribution: the POUNDS LOST trial. Am J Clin Nutr (2015) 0.75

Articles by these authors

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature (2009) 33.26

Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66

Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05

Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet (2007) 12.62

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet (2008) 10.49

Wake-up call for British psychiatry. Br J Psychiatry (2008) 10.30

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature (2009) 9.47

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02

Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet (2013) 7.44

Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 7.39

Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. Am J Hum Genet (2003) 6.63

Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13

Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder. Am J Hum Genet (2009) 5.98

Synaptic, transcriptional and chromatin genes disrupted in autism. Nature (2014) 5.30

Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet (2007) 5.28

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet (2009) 4.52

White matter changes in schizophrenia: evidence for myelin-related dysfunction. Arch Gen Psychiatry (2003) 4.25

Genes for schizophrenia and bipolar disorder? Implications for psychiatric nosology. Schizophr Bull (2005) 3.93

Correlation of Alzheimer disease neuropathologic changes with cognitive status: a review of the literature. J Neuropathol Exp Neurol (2012) 3.77

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet (2012) 3.50

A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet (2009) 3.42

Acetylation of tau inhibits its degradation and contributes to tauopathy. Neuron (2010) 3.15

A new testing strategy to identify rare variants with either risk or protective effect on disease. PLoS Genet (2011) 3.13

Cis-acting variation in the expression of a high proportion of genes in human brain. Hum Genet (2003) 3.07

Analysis of copy number variations at 15 schizophrenia-associated loci. Br J Psychiatry (2013) 3.01

Phenotypic and genetic complexity of psychosis. Invited commentary on ... Schizophrenia: a common disease caused by multiple rare alleles. Br J Psychiatry (2007) 2.97

Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol (2010) 2.91

Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene. Proc Natl Acad Sci U S A (2005) 2.76

Sequencing of the sea lamprey (Petromyzon marinus) genome provides insights into vertebrate evolution. Nat Genet (2013) 2.76

Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. Am J Hum Genet (2011) 2.71

Improved detection of common variants associated with schizophrenia and bipolar disorder using pleiotropy-informed conditional false discovery rate. PLoS Genet (2013) 2.68

Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans. JAMA (2013) 2.58

Operation of the schizophrenia susceptibility gene, neuregulin 1, across traditional diagnostic boundaries to increase risk for bipolar disorder. Arch Gen Psychiatry (2005) 2.58

Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One (2010) 2.57

Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. Am J Psychiatry (2012) 2.48

Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron (2013) 2.45

Sequence kernel association tests for the combined effect of rare and common variants. Am J Hum Genet (2013) 2.41

Neuregulin 1-erbB signaling and the molecular/cellular basis of schizophrenia. Nat Neurosci (2004) 2.28

Neurexin 1 (NRXN1) deletions in schizophrenia. Schizophr Bull (2009) 2.25

Effects of differential genotyping error rate on the type I error probability of case-control studies. Hum Hered (2006) 2.21

Common variants at VRK2 and TCF4 conferring risk of schizophrenia. Hum Mol Genet (2011) 2.21

Enhanced striatal dopamine transmission and motor performance with LRRK2 overexpression in mice is eliminated by familial Parkinson's disease mutation G2019S. J Neurosci (2010) 2.20

Mitochondrial abnormalities in Alzheimer brain: mechanistic implications. Ann Neurol (2005) 2.20

A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. BMC Med Genomics (2008) 2.20

Polymorphism of the 5-HT transporter and response to antidepressants: randomised controlled trial. Br J Psychiatry (2011) 2.18

Genetic variation of brain-derived neurotrophic factor (BDNF) in bipolar disorder: case-control study of over 3000 individuals from the UK. Br J Psychiatry (2006) 2.16

A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain. Am J Hum Genet (2003) 2.11

Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia. Arch Gen Psychiatry (2010) 2.11

Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology (2012) 2.08

All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs. PLoS Genet (2013) 2.08

Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Biol Psychiatry (2010) 2.07

Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A (2006) 2.03

Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools. Hum Genet (2002) 2.03

Adolescent clinical outcomes for young people with attention-deficit hyperactivity disorder. Br J Psychiatry (2010) 1.99

Pooled DNA genotyping on Affymetrix SNP genotyping arrays. BMC Genomics (2006) 1.96

Improved detection of common variants associated with schizophrenia by leveraging pleiotropy with cardiovascular-disease risk factors. Am J Hum Genet (2013) 1.96

Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness. Am J Psychiatry (2011) 1.94

Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia. Am J Hum Genet (2005) 1.93

Genome-wide association study of schizophrenia in a Japanese population. Biol Psychiatry (2010) 1.89

Abeta localization in abnormal endosomes: association with earliest Abeta elevations in AD and Down syndrome. Neurobiol Aging (2004) 1.88

De novo rates and selection of schizophrenia-associated copy number variants. Biol Psychiatry (2011) 1.87

Neurodevelopmental hypothesis of schizophrenia. Br J Psychiatry (2011) 1.87

Strong synaptic transmission impact by copy number variations in schizophrenia. Proc Natl Acad Sci U S A (2010) 1.85

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet (2011) 1.85

Gene expression patterns associated with posttraumatic stress disorder following exposure to the World Trade Center attacks. Biol Psychiatry (2009) 1.85

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A (2012) 1.85

The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders. Trends Neurosci (2009) 1.84

Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. PLoS Genet (2010) 1.80

Increased hippocampal plaques and tangles in patients with Alzheimer disease with a lifetime history of major depression. Arch Gen Psychiatry (2006) 1.79

C-reactive protein and familial risk for dementia: a phenotype for successful cognitive aging. Neurology (2012) 1.77

Haplotypes at the dystrobrevin binding protein 1 (DTNBP1) gene locus mediate risk for schizophrenia through reduced DTNBP1 expression. Hum Mol Genet (2005) 1.72

Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries. Hum Mol Genet (2010) 1.72

Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice. J Neurosci (2012) 1.71

Suggestion of roles for both common and rare risk variants in genome-wide studies of schizophrenia. Arch Gen Psychiatry (2010) 1.71

DNA pooling as a tool for large-scale association studies in complex traits. Ann Med (2004) 1.70

Functional analysis of human promoter polymorphisms. Hum Mol Genet (2003) 1.69

Loss and altered spatial distribution of oligodendrocytes in the superior frontal gyrus in schizophrenia. Biol Psychiatry (2003) 1.69

Abeta-mediated NMDA receptor endocytosis in Alzheimer's disease involves ubiquitination of the tyrosine phosphatase STEP61. J Neurosci (2010) 1.64

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet (2011) 1.63

Gene expression alterations in the sphingolipid metabolism pathways during progression of dementia and Alzheimer's disease: a shift toward ceramide accumulation at the earliest recognizable stages of Alzheimer's disease? Neurochem Res (2007) 1.61

PGC-1alpha expression decreases in the Alzheimer disease brain as a function of dementia. Arch Neurol (2009) 1.61

Increasing power for tests of genetic association in the presence of phenotype and/or genotype error by use of double-sampling. Stat Appl Genet Mol Biol (2004) 1.61

Evidence that interaction between neuregulin 1 and its receptor erbB4 increases susceptibility to schizophrenia. Am J Med Genet B Neuropsychiatr Genet (2006) 1.61

Phenotypic variations on the theme of CNVs. Nat Genet (2008) 1.58

No major schizophrenia locus detected on chromosome 1q in a large multicenter sample. Science (2002) 1.57

Myelin-associated mRNA and protein expression deficits in the anterior cingulate cortex and hippocampus in elderly schizophrenia patients. Neurobiol Dis (2005) 1.56

Family-based association tests for sequence data, and comparisons with population-based association tests. Eur J Hum Genet (2013) 1.55

Type 2 diabetes is negatively associated with Alzheimer's disease neuropathology. J Gerontol A Biol Sci Med Sci (2005) 1.55