|
rs4332347
|
DISC1;TSNAX-DISC1
|
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
|
0.700 |
GeneticVariation |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
rs4332347
|
DISC1;TSNAX-DISC1
|
Adolescent idiopathic scoliosis
|
|
0.700 |
GeneticVariation |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
Meta-analyses results suggested that DISC1 polymorphisms (rs821616 and rs821597) increased SCZ risk in overall populations.
|
29031911 |
2018 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
We found that SNP rs821597 is significantly associated with schizophrenia risk in terms of both allelic and genotypic distribution, while SNP rs821616 is associated with schizophrenia in terms of genotypic distribution, especially in cases above 40 years old.
|
30286368 |
2018 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
Both rs3738401 and rs821616 showed not significantly association with schizophrenia in the Caucasian, Asian, Japanese or Han Chinese populations.
|
29410289 |
2018 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
Our previous study confirmed that the 'AA' genotype carriers of DISC1 single nucleotide polymorphism (SNP) rs821616 had a significantly increased risk for schizophrenia (SCZ) in comparison with noncarriers.
|
26945459 |
2016 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
The interaction of DISC1 rs821616 T allele with the NRG1 rs3924999 A allele or that of DISC1 rs821597 A allele with NRG1 rs3924999 A allele had synergic effects on the development of sc</span>hizophrenia.
|
27236031 |
2016 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
The Disrupted-in-Schizophrenia-1 Ser704Cys polymorphism and brain neurodevelopmental markers in schizophrenia and healthy subjects.
|
25092219 |
2015 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
No significant relationship was found between the -274G>C, c.791G>A, and c.2110A>T haplotypes and development of different acute symptoms of schizophrenia.
|
23347445 |
2013 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
In this study, we investigated the brain anatomical networks of 278 healthy volunteers with different genotypes in the common missense variant (Ser704Cys) of the Disrupted-in-Schizophrenia-1 (DISC1) gene, which is one of the main susceptibility genes of schizophrenia and other psychiatric disorders.
|
22693340 |
2013 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
We performed a meta-analysis of the Ser704Cys variant in schizophrenia using data from the present study and five previous Japanese population studies, and found no association with schizophrenia.
|
24013095 |
2013 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
Two-locus analysis showed C-C (rs766288-rs2812393) as a risk combination in BPAD, and G-T (rs2812393-rs821616) as a protective combination in SCZ and combined cases of BPAD or SCZ.
|
22673686 |
2012 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
The schizophrenia risk variant S704C affects the formation of octamers of DISC1 and exhibits higher-order self-oligomerization.
|
21998303 |
2011 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
In contrast to the significant effect on prefrontal activation we had previously found in healthy subjects, no significant effect of Cys704Ser was detected in this or any other region in either the schizophrenia or bipolar groups.
|
21091867 |
2011 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
Three common missense variants of the Disrupted in Schizophrenia 1 (DISC1) gene, rs3738401 (Q264R), rs6675281 (L607F) and rs821616 (S704C), have been variably associated with the risk of schizophrenia.
|
20531374 |
2011 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
These different genotype effects of the DISC1 Ser704Cys polymorphism on the brain morphology in schizophrenia patients and healthy comparison subjects suggest that variation in the DISC1 gene might be, at least partly, involved in the neurobiology of schizophrenia.
|
19304459 |
2009 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
Schizophrenia risk-associated polymorphisms [non-synonymous SNPs rs821616 (Cys704Ser) and rs6675281 (Leu607Phe), and rs821597] were associated with the expression of Delta3 and Delta7Delta8.
|
19805229 |
2009 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
In addition, we confirm that two common structural variants (Q264R and S704C) elevate the risk for schizophrenia slightly (odds ratio 1.3, 95% CI: 1.0-1.7).
|
18164685 |
2008 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
Secondary analyses revealed no direct relationship between NDE1 genotype and SZ; however, there was an opposite pattern of risk for NDE1 genotype when conditioned on DISC1 Ser704Cys, with NDE1 rs3784859 imparting a significant effect but only in the context of a Cys-carrying background.
|
18469341 |
2008 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
In further endophenotype stratification, however, we found a significant association between rs821616 and the poor concentration subgroup of SCZ, determined using the Operational Criteria Checklist (codominant model, p=0.015).
|
17997036 |
2008 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
A common nonsynonymous single nucleotide polymorphism leading to a serine-to-cysteine substitution at amino acid 704 (Ser(704)Cys) in the DISC1 protein sequence has been recently associated with schizophrenia and with specific hippocampal abnormalities.
|
19046394 |
2008 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
We detected significant associations between a DISC1 haplotype containing Ser704Cys and Ser704Cys genotype and lifetime severity of delusions in SZ.
|
17054920 |
2007 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
When haplotypes were constructed with two, three, and four markers, a number of haplotype combinations, especially those including rs821616 and rs821597, were significantly associated with schizophrenia.
|
17286247 |
2007 |
|
rs821616
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.100 |
GeneticVariation |
BEFREE |
These convergent data suggest that allelic variation within DISC1, either at Ser704Cys or haplotypes monitored by it, increases the risk for schizophrenia and that the mechanism of this effect involves structural and functional alterations in the hippocampal formation.
|
15939883 |
2005 |
|
rs821597
|
DISC1;TSNAX-DISC1
|
Schizophrenia
|
|
0.080 |
GeneticVariation |
BEFREE |
Meta-analyses results suggested that DISC1 polymorphisms (rs821616 and rs821597) increased SCZ risk in overall populations.
|
29031911 |
2018 |