Prominent publications by Andrea Nikie Christoforou

KOL Index score: 12414

It has long been recognized that generalized deficits in cognitive ability represent a core component of schizophrenia (SCZ), evident before full illness onset and independent of medication. The possibility of genetic overlap between risk for SCZ and cognitive phenotypes has been suggested by the presence of cognitive deficits in first-degree relatives of patients with SCZ; however, until recently, molecular genetic approaches to test this overlap have been lacking. Within the last few ...

Also Ranks for: Genetic Overlap |  cognitive genomics |  risk scz |  polygenic component |  illness onset
KOL Index score: 9977

Neuregulin 1 (NRG1) is a strong candidate for involvement in the aetiology of schizophrenia. A haplotype, initially identified as showing association in the Icelandic and Scottish populations, has shown a consistent effect size in multiple European populations. Additionally, NRG1 has been implicated in susceptibility to bipolar disorder. In this first study to select markers systematically on the basis of linkage disequilibrium across the entire NRG1 gene, we used haplotype-tagging ...

Also Ranks for: Bipolar Disorder |  neuregulin 1 |  haplotypes humans |  linkage disequilibrium |  multiple testing
KOL Index score: 9678

Schizophrenia (SCZ) and bipolar disorder (BPD) are severe heritable psychiatric disorders involving a complex genetic aetiology. Neuregulin 1 (NRG1) is a leading candidate gene for SCZ, and has recently been implicated in BPD. We previously reported association of two NRG1 haplotypes with SCZ and BPD in a Scottish case-control sample. One haplotype is located at the 5' end of the gene (region A), and the other is located at the 3' end (region B). Here, association to haplotypes within ...

Also Ranks for: Bipolar Disorder |  neuregulin 1 |  scz bpd |  association analysis |  case control
KOL Index score: 9231

General intelligence is an important human quantitative trait that accounts for much of the variation in diverse cognitive abilities. Individual differences in intelligence are strongly associated with many important life outcomes, including educational and occupational attainments, income, health and lifespan. Data from twin and family studies are consistent with a high heritability of intelligence, but this inference has been controversial. We conducted a genome-wide analysis of 3511 ...

Also Ranks for: Human Intelligence |  genetic variation |  individual differences |  female genome |  cognitive traits
KOL Index score: 8911

In the search for the biological causes of schizophrenia and bipolar disorder, glutamate neurotransmission has emerged as one of a number of candidate processes and pathways where underlying gene deficits may be present. The analysis of chromosomal rearrangements in individuals diagnosed with neuropsychiatric disorders is an established route to candidate gene identification in both Mendelian and complex disorders. Here we describe a set of genes disrupted by, or proximal to, chromosomal ...

Also Ranks for: Bipolar Disorder |  grik4 schizophrenia |  glutamate receptor |  human pair |  psychiatric illness
KOL Index score: 8904

General cognitive function is a prominent and relatively stable human trait that is associated with many important life outcomes. We combine cognitive and genetic data from the CHARGE and COGENT consortia, and UK Biobank (total N = 300,486; age 16-102) and find 148 genome-wide significant independent loci (P < 5 × 10-8) associated with general cognitive function. Within the novel genetic loci are variants associated with neurodegenerative and neurodevelopmental disorders, physical and ...

Also Ranks for: General Cognitive Function |  genetic loci |  uk biobank |  polygenic scores |  brain structure
KOL Index score: 8846

The complex nature of human cognition has resulted in cognitive genomics lagging behind many other fields in terms of gene discovery using genome-wide association study (GWAS) methods. In an attempt to overcome these barriers, the current study utilized GWAS meta-analysis to examine the association of common genetic variation (~8M single-nucleotide polymorphisms (SNP) with minor allele frequency ⩾1%) to general cognitive function in a sample of 35 298 healthy individuals of European ...

Also Ranks for: Cognitive Function |  gwas meta |  genetic association |  european ancestry |  educational attainment
KOL Index score: 8757

BACKGROUND: Phosphodiesterase 4B (PDE4B) is a candidate gene for schizophrenia and affective disorders through its disruption by a chromosomal translocation in an individual with schizophrenia, its inhibition by the antidepressant rolipram, and its physical interaction with another key candidate, Disrupted in Schizophrenia (DISC1).

OBJECTIVE: To determine the contribution made by PDE4B to the population risk of schizophrenia and bipolar disorder by carrying out a case-control association ...

Also Ranks for: Pde4b Gene |  schizophrenia bipolar disorder |  single nucleotide |  phosphodiesterase 4b |  multiple testing
KOL Index score: 8579

BACKGROUND: Early detection of consciousness after severe brain injury is critical for establishing an accurate prognosis and planning appropriate treatment.

OBJECTIVES: To determine which behavioural signs of consciousness emerge first and to estimate the time course to recovery of consciousness in patients with severe acquired brain injury.

METHODS: Retrospective observational study using the Coma Recovery Scale-Revised and days to recovery of consciousness in 79 patients (51 males; 34 ...

Also Ranks for: Severe Brain Injury |  recovery consciousness |  minimally conscious state |  traumatic brain |  visual pursuit
KOL Index score: 8176

The neuronal PAS domain 3 (NPAS3) gene encodes a neuronal transcription factor that is implicated in psychiatric disorders by the identification of a human chromosomal translocation associated with schizophrenia and a mouse knockout model with behavioural and hippocampal neurogenesis defects. To determine its contribution to the risk of psychiatric illness in the general population, we genotyped 70 single-nucleotide polymorphisms across the NPAS3 gene in 368 individuals with bipolar ...

Also Ranks for: Bipolar Disorder |  npas3 gene |  psychiatric illness |  transcription factors |  risk schizophrenia
KOL Index score: 7541

Doublecortin and calmodulin like kinase 1 (DCLK1) is implicated in synaptic plasticity and neurodevelopment. Genetic variants in DCLK1 are associated with cognitive traits, specifically verbal memory and general cognition. We investigated the role of DCLK1 variants in three psychiatric disorders that have neuro-cognitive dysfunctions: schizophrenia (SCZ), bipolar affective disorder (BP) and attention deficit/hyperactivity disorder (ADHD). We mined six genome wide association studies ...

Also Ranks for: Hyperactivity Disorder |  genetic variants dclk1 |  cognitive traits |  synaptic plasticity |  attention deficit
KOL Index score: 7528

The orphan G protein-coupled receptor 78 (GPR78) gene lies within a region of chromosome 4p where we have previously shown linkage to bipolar affective disorder (BPAD) in a large Scottish family. GPR78 was screened for single-nucleotide polymorphisms (SNPs) and a linkage disequilibrium map was constructed. Six tagging SNPs were selected and tested for association on a sample of 377 BPAD, 392 schizophrenia (SCZ) and 470 control individuals. Using standard χ2 statistics and a backwards ...

Also Ranks for: Bipolar Affective Disorder |  association analysis |  chromosome 4p |  bpad scz |  single nucleotide receptors
KOL Index score: 7370

The complement cascade plays a role in synaptic pruning and synaptic plasticity, which seem to be involved in cognitive functions and psychiatric disorders. Genetic variants in the closely related CSMD1 and CSMD2 genes, which are implicated in complement regulation, are associated with schizophrenia. Since patients with schizophrenia often show cognitive impairments, we tested whether variants in CSMD1 and CSMD2 are also associated with cognitive functions per se. We took a ...

Also Ranks for: Cognitive Function |  genetic association |  psychiatric disorders |  complement cascade |  synaptic pruning
KOL Index score: 7334

Differences in general cognitive ability (intelligence) account for approximately half of the variation in any large battery of cognitive tests and are predictive of important life events including health. Genome-wide analyses of common single-nucleotide polymorphisms indicate that they jointly tag between a quarter and a half of the variance in intelligence. However, no single polymorphism has been reliably associated with variation in intelligence. It remains possible that these many ...

Also Ranks for: Genetic Variation |  cognitive ability |  maguk proteins |  postsynaptic density |  genome wide
KOL Index score: 7127

BACKGROUND: Despite its estimated high heritability, the genetic architecture leading to differences in cognitive performance remains poorly understood. Different cortical regions play important roles in normal cognitive functioning and impairment. Recently, we reported on sets of regionally enriched genes in three different cortical areas (frontomedial, temporal and occipital cortices) of the adult rat brain. It has been suggested that genes preferentially, or specifically, expressed in ...

Also Ranks for: Cognitive Traits |  psychiatric disorders |  gwas data |  based analysis |  genetic architecture

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Andrea Nikie Christoforou:Expert Impact

Concepts for whichAndrea Nikie Christoforouhas direct influence:Bipolar disorder,  General cognitive function,  Schizophrenia bipolar disorder,  Cognitive traits,  Psychiatric genetics,  Association analysis,  General cognitive ability,  Enigma consortium.

Andrea Nikie Christoforou:KOL impact

Concepts related to the work of other authors for whichfor which Andrea Nikie Christoforou has influence:Bipolar disorder,  Educational attainment,  Cognitive ability,  Genetic variants,  Genome wide,  White matter,  Uk biobank.



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Dr. Einar Martens Research Group for Biological Psychiatry, Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway | Spaulding Rehabilitation Hospital Boston, Charlestown, MA USA | Stroke Biological Recovery Laboratory, Spauldi