Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This suggests a deficit in 5-HTT within the ACC in individuals with autism, while decreases in 5-HT₂ density are age-dependent.
|
31325179 |
2019 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A systematic literature search was performed to identify transmission disequilibrium tests on the short/long (S/L) 5-HTTLPR polymorphism in relation to autism.
|
31618836 |
2019 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Although there was a significant association between 5-HTTLPR polymorphism and autism risk under the dominant model after removing the studies causing heterogeneity, the significance did not exist after Bonferroni's correction.
|
30814960 |
2019 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The 5-HT transporter (SERT; SLC6A4) is a key regulator of 5-HT signaling, and genetic variations in SERT are associated with various disorders including depression, anxiety, and autism.
|
28406285 |
2017 |
Autistic Disorder
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
SLC6A4 markers modulate platelet 5-HT level and specific behaviors of autism: a study from an Indian population.
|
25261775 |
2015 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Third, we review our identification and functional characterization of multiple, hyperactive SERT coding variants in subjects with autism.
|
21893166 |
2011 |
Autistic Disorder
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Therefore, factors that regulate 5-HTT expression might be implicated in autism.
|
21118708 |
2011 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants.
|
21183371 |
2011 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In order to further elucidate the relationship between the 5-HTTLPR variant and autism risk, we undertook a thorough study of parent-of-origin effects, maternal genotype effects, and offspring genotype effects in a sample of affected offspring from the Autism Genetic Resource Exchange (AGRE).
|
21302342 |
2011 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
The case-control association analysis showed neither SLC6A4 nor DBH to be statistically significantly associated with AU or ASD.
|
21538940 |
2011 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The serotonin transporter promoter length polymorphism (5-hydroxytryptamine transporter length polymorphism; 5-HTTLPR) has long been implicated in autism and other psychiatric disorders.
|
20649385 |
2010 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
CTD_human |
This is the first South African study of autistic individuals of different ethnic backgrounds that shows significant differences in allele and genotype frequencies of 5-HTTLPR.
|
20649385 |
2010 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
Studies point to possible links between autism and two serotonin related genes: SLC6A4 and ITGB3 with a sex-specific genetic effect and interaction between the genes.
|
19588468 |
2010 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Within autism, rare hSERT coding variants associate with rigid-compulsive traits, suggesting both phenotypic overlap with OCD and a shared relationship with disrupted 5-HT signalling.
|
18957375 |
2009 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
Rare, functional, non-synonymous variants in the human serotonin (5-hydroxytryptamine, 5-HT) transporter (hSERT) gene (SLC6A4) have been identified in both autism and obsessive-compulsive disorder (OCD).
|
18957375 |
2009 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
However, the interesting finding of strong linkage disequilibrium (LD) between the markers and significant disease-specific distortion in the distribution of HTT-3'UTR-SNP genotypes (T1chi(2)=5.19, P=0.02; OR=2.89, 95% CI=1.13-7.41) and the specific haplotypes of the two markers (LRS=11.85, p(c)=0.02), with higher frequencies of T/T genotype and 10-T haplotype in autistic cases suggests that either these markers or nearby markers of SLC6A4 that are in LD, may pose a risk towards autism in the Eastern Indian population.
|
18804097 |
2008 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Evidence implicates the serotonin transporter gene (SLC6A4) and the 15q11-q13 genes as candidates for autism as well as restricted repetitive behavior (RRB).
|
18361419 |
2008 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The meta-analysis failed to find a significant overall association between either of the 5-HTT polymorphisms examined and autism.
|
18286633 |
2008 |
Autistic Disorder
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Therefore, factors that regulate 5-HTT expression might be implicated in autism.
|
18593506 |
2008 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In the current study we explored the hypothesis that rare variants in SLC6A4 contribute to autism susceptibility and to rigid-compulsive behaviors in autism.
|
19360675 |
2008 |
Autistic Disorder
|
0.400 |
AlteredExpression
|
disease |
LHGDN |
We report a significant main effect of the HTR5A gene in autism (P = 0.0088), and a significant three-locus model comprising a synergistic interaction between the ITGB3 and SLC6A4 genes with an additive effect of HTR5A (P < 0.0010).
|
17203304 |
2007 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report a significant main effect of the HTR5A gene in autism (P = 0.0088), and a significant three-locus model comprising a synergistic interaction between the ITGB3 and SLC6A4 genes with an additive effect of HTR5A (P < 0.0010).
|
17203304 |
2007 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
CTD_human |
We report a significant main effect of the HTR5A gene in autism (P = 0.0088), and a significant three-locus model comprising a synergistic interaction between the ITGB3 and SLC6A4 genes with an additive effect of HTR5A (P < 0.0010).
|
17203304 |
2007 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
CTD_human |
Family-based association study of 5-HTTLPR and the 5-HT2A receptor gene polymorphisms with autism spectrum disorder in Korean trios.
|
17280648 |
2007 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Analyzing four markers in SLC6A4 and four markers in ITGB3 in 117 white family triads with autism and using sex of the proband as a PC, we found significant interaction between two markers--rs1042173 in SLC6A4 and rs3809865 in ITGB3.
|
17999363 |
2007 |