SLC6A4, solute carrier family 6 member 4, 6532

N. diseases: 440; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 AlteredExpression disease BEFREE Therefore, factors that regulate 5-HTT expression might be implicated in autism. 21118708 2011
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 AlteredExpression disease BEFREE Therefore, factors that regulate 5-HTT expression might be implicated in autism. 18593506 2008
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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
CUI: C0004352
Disease: Autistic Disorder
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