Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Over the last 12 months, a series of major articles have reported associations with schizophrenia of copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 22q12, and Neurexin 1 loci.
|
18990708 |
2009 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
GWASCAT |
Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
|
31374203 |
2019 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
All of them affect multiple genes (apart from NRXN1) and cause substantial increases in risk to develop schizophrenia (odds ratios of 2 to over 50).
|
26130694 |
2015 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous copy-number and missense variants in CNTNAP2 and NRXN1 have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such as developmental language and autism spectrum disorders, epilepsy and schizophrenia.
|
21827697 |
2011 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
However, we did not find any association with age-at-onset of schizophrenia with NRXN1 polymorphisms.
|
21477380 |
2011 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
CNVs spanning the 2p16.3 (NRXN1) and the 15q11.2 gene rich region have been associated with severe neuropsychiatric disorders including schizophrenia.
|
26563496 |
2015 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We provide support for three previous findings in schizophrenia, as we identified one deletion in a case at 1q21.1, one deletion within NRXN1, and four duplications in cases and one in a control subject at 16p13.1, a locus first implicated in autism and later in schizophrenia.
|
19880096 |
2010 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The putative functional rs1045881 marker of neurexin-1 in schizophrenia and clozapine response.
|
21890328 |
2011 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The overall frequency of CNVs in regions with reported associations with schizophrenia (chromosomes 1q21.1, 15q13.3, 16p11.2, and 22q11.2 and the neurexin-1 gene [NRXN1]) was similar to previous case-control studies.
|
22885689 |
2012 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, NRXN1 deletions have been reported in schizophrenia, whereas CNTNAP2 variants are associated with several neuropsychiatric phenotypes.
|
20421335 |
2010 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
However, the manner in which NRXN1 gene variation may be related to brain morphology to confer risk for ASD or schizophrenia is unknown.
|
21687627 |
2011 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study examined five NRXN1 single-nucleotide polymorphisms (SNPs) for possible association with the occurrence and severity of TD in 178 schizophrenia patients of European ancestry.
|
28120489 |
2017 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
NRXN1 copy number variation is a rare genetic factor commonly shared among autism spectrum disorder (ASD), schizophrenia, intellectual disability, epilepsy and developmental delay.
|
31759289 |
2019 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thus we have added to the evidence that NRXN1 deletions are more frequent in patients with schizophrenia than in healthy individuals.
|
24680031 |
2014 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The data strongly confirm the association of schizophrenia with 1q21.1, 15q13.3, and 22q11.21 deletions, 16p11.2 duplications, and exonic NRXN1 deletions.
|
21285140 |
2011 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results provide confirmatory evidence of genetically determined differences in drug response in patients with schizophrenia related to NRXN1 variation.
|
24633560 |
2014 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Large NRXN1 deletions have also been associated with schizophrenia.
|
20860064 |
2010 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Rare NRXN1 promoter variants in patients with schizophrenia.
|
20347009 |
2010 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These data suggest a role of rare missense variants at NRXN1 and AKAP9 in schizophrenia susceptibility, probably related to alteration of the excitatory/inhibitory synaptic balance, deserving further investigation.
|
25943950 |
2016 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features.
|
23495017 |
2013 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We conclude that NRXN1 deletions affecting exons confer risk of schizophrenia.
|
18945720 |
2009 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Chromosomal deletions of 1q21.1, 3q29, 15q13.3, 22q11.2, and NRXN1 and duplications of 15q11-q13 (maternal), 16p11, and 16p13.3 have the strongest association with schizophrenia.
|
22118685 |
2011 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A number of genes that undergo radical changes in expression during this transition include candidates for schizophrenia (SZ), bipolar disorder (BD) and autism spectrum disorders (ASD) that function as transcription factors and chromatin modifiers, such as POU3F2 and ZNF804A, and genes coding for cell adhesion proteins implicated in these conditions including NRXN1 and NLGN1.
|
21915259 |
2011 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Since this represents one of the core symptom domains affected in autism spectrum disorders and schizophrenia in humans, our findings suggest that deletions within NRXN1 found in patients may be responsible for the impairments seen in social behaviours, and that the Nrxn1α KO mice are a useful model of human neurodevelopmental disorder.
|
23840597 |
2013 |
Schizophrenia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Overall, however, the results do not suggest the existence of rare, highly penetrant NRXN1 mutations in patients with schizophrenia.
|
21288692 |
2011 |