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: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.010 GeneticVariation phenotype BEFREE The frequency of SLC6A4-polymorphism and higher levels of 5-HT were significantly associated with IBS, particularly in patients with diarrhea and abdominal pain, suggesting that SLC6A4 is a potential candidate gene involved in the pathogenesis of IBS. 22457857 2012
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype BEFREE Nevertheless, research preliminarily indicates a methylation-driven increased vulnerability of carriers of the short allele of 5-HTTLPR to psychiatric disorders when exposed to early stress or soon after exposure to stress. 27880876 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 Biomarker phenotype BEFREE Though these analogs are not superior than D22 in discriminating among OCTs/PMAT, our findings point to development of compounds with combined ability to inhibit both low-affinity/high-capacity transporters, such as OCT3, and high-affinity/low-capacity transporters, such as SERT, as therapeutics with potentially improved efficacy for treatment of psychiatric disorders. 30473490 2019
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 Biomarker phenotype BEFREE Since the 5-HT transporter plays an important role in regulation of 5-HT transmission, its gene can be considered as a candidate for vulnerability to psychiatric disorders. 10673774 2000
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 Biomarker phenotype BEFREE Previous studies have showed associations of serotonin transporter (5-HTT) and monoamine oxidase A (MAOA) with behavioral and psychiatric disorders. 30126429 2018
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 Biomarker phenotype BEFREE We have recently described a polymorphism in the 5-HTT gene promoter (5-HTTLPR) which influences the function of the 5-HTT and is associated with several psychiatric disorders. 10676853 2000
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype 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: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype BEFREE It was demonstrated that polymorphisms in the promoter region (5-HTTLPR) and in the second intron (VNTR) have functional consequences and are for this reason of particular interest in relation to various psychiatric disorders. 16969272 2006
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype BEFREE The most common of these variants, SERT Ala56, located in the transporter's cytosolic N-terminus, has been found to confer in transgenic mice hyperserotonemia, an ASD-associated biochemical trait, an elevated brain 5-HT clearance rate, and ASD-aligned behavioral changes. 30668912 2019
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype BEFREE A functional polymorphism (5-HTTLPR) in the upstream regulatory region of the gene (SLC6A4) has been associated with a number of psychiatric disturbances, but conflicting replication followed. 11803453 2002
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype BEFREE There is abundant evidence that the serotonin (5-HT) system is modulating mood and several behavioural traits and that disturbances in the regulation of this system can be associated with severe behavioural malfunctions, as aggressive implusive and suicidal behaviour.1 Recently a functional polymorphism in the promoter region of the serotonin transporter gene (5-HTTLPR) was identified2 and the presence of one or two short alleles was associated with anxiety-related personality traits3 and several psychiatric disturbances, such as affective disorder4 or severe alcohol dependence.5 With respect to the importance of the 5-HT transporter in serotonergic transmission, we have genotyped the DNA of 58 Caucasian suicide victims (with unknown psychiatric diagnoses) and 110 healthy controls for the biallelic functional polymorphism in the 5-HTTLPR. 10822348 2000
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 Biomarker phenotype BEFREE The S allele has been associated with a variety of psychiatric disorders and symptoms including alcohol dependence, but it is unknown whether 5-HTTLPR increases the risk for co-morbid sociopathy among those with alcohol dependence. 20192950 2011
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype BEFREE We investigated, in a large cohort of 5,608 controls and subjects suffering from various psychiatric disorders, the frequency of haplotypes and corresponding genotypes combining the 5-HTTLPR and the other serotonin transporter promoter functional variant (rs25531). 20862697 2010
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype BEFREE We have demonstrated in both the human serotonin transporter gene (5HTT) and the dopamine transporter gene (DAT1) that specific polymorphic variants termed Variable Number Tandem Repeats (VNTRs), which correlate with predisposition to a number of neurological and psychiatric disorders, act as transcriptional regulatory domains. 17960477 2008
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 Biomarker phenotype BEFREE The genetic variations in norepinephrine transporter (NET) and serotonin transporter (SERT) genes have been associated with personality traits, several psychiatric disorders and the efficacy of antidepressant treatment. 25739526 2015
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype BEFREE Variation in the promoter region of the serotonin transporter gene (serotonin transporter-linked polymorphic region [5-HTTLPR]) is a particularly promising candidate in this context, which has been linked to psychiatric disorders as well as to limbic and prefrontal reactivity. 29760654 2018
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 Biomarker phenotype BEFREE Serotonin transporter gene (SLC6A4) is one of the most promising candidate genes for psychiatric disorders such as schizophrenia (SCZ) and bipolar disorder (BP). 16082508 2006
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 Biomarker phenotype BEFREE Our results thus yield further insight into the role of the 5-HTTLPR in the background of neuroticism and neuroticism-related psychiatric disorders. 18806915 2009
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 AlteredExpression phenotype BEFREE In humans, the short (S) allele in the 5-HTT gene-linked polymorphic region, which decreases 5-HTT expression, has been shown to be associated with behavioral changes including an increased level of anxiety. 28465138 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 Biomarker phenotype BEFREE Alterations in 5-HT transmission have been linked to pathological symptoms in both intestinal and psychiatric disorders and selective 5-HT transporter (5-HTT) inhibitors, affecting the 5-HT system by blocking the 5-HT transporter (5-HTT) have been successfully used to treat CNS- and intestinal disorders. 28824378 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 Biomarker phenotype BEFREE The serotonin transporter (5-HTT) and tryptophan hydroxylase (TPH) gene are important candidate genes for the psychiatric disorders. 15722951 2005
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 Biomarker phenotype BEFREE The serotonin transporter gene (SLC6A4), which plays a key role in the serotonergic pathway in the brain, is a candidate for mediating genetic susceptibility to various psychiatric disorders. 11324943 2000
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype BEFREE A length polymorphism repeat in the 5-HTT promoter region, termed 5-HTTLPR, has been commonly investigated for an association with psychiatric disorders. 22921522 2013
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 Biomarker phenotype BEFREE Both serotonin transporter (SLC6A4) and brain-derived neurotrophic factor (BDNF) genes have shown positive associations with obsessive-compulsive disorder (OCD) and some other psychiatric disorders, but these results have not been consistently replicated. 17375136 2007
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.100 GeneticVariation phenotype BEFREE The newly derived 5-HTTLPR Phenotype Scale shows strong association with 5-HTTLPR genotype and phenotype, therefore this scale should be further investigated in relation to psychiatric disorders, as well as psychological traits and temperaments. 18455241 2009