DisGeNET - a database of gene-disease associations

SLC6A4, solute carrier family 6 member 4, 6532

N. diseases: 440; N. variants: 28

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs25531

Entrez Id:	6532;105371720
Gene Symbol:	SLC6A4;LOC105371720

SLC6A4;LOC105371720

CUI:	C0233514
Disease:

Abnormal behavior

0.050

GeneticVariation

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

dbSNP:

rs25531

Entrez Id:	6532;105371720
Gene Symbol:	SLC6A4;LOC105371720

SLC6A4;LOC105371720

CUI:	C0233514
Disease:

Abnormal behavior

0.050

GeneticVariation

BEFREE

Comparing the genotypic and allelic frequencies of AD without and with BPSD, we did not find a difference for the 5-HTTLPR or the rs25531, even after stratification according to single SBI-BP item.

19625753

2009

dbSNP:

rs25531

Entrez Id:	6532;105371720
Gene Symbol:	SLC6A4;LOC105371720

SLC6A4;LOC105371720

CUI:	C0233514
Disease:

Abnormal behavior

0.050

GeneticVariation

BEFREE

SLC6A4 polymorphisms are not associated with the risk of developing major psychiatric disorders (SCZ and BPD); however some signals were detected in ALC (HTTLPR pd = 9.25 × 10-03, pr = 7.24 × 10-03; rs2066713 pd = 6.35 × 10-08; rs25531 pd = 2.95 × 10-02; rs4251417 pd = 2.46 × 10-03), and ALZ (rs6354 pr = 1.22 × 10-02; rs7224199 pd = 1.00 × 10-08, pr = 2.65 × 10-02) cohorts.

31595439

2020

dbSNP:

rs25531

Entrez Id:	6532;105371720
Gene Symbol:	SLC6A4;LOC105371720

SLC6A4;LOC105371720

CUI:	C0233514
Disease:

Abnormal behavior

0.050

GeneticVariation

BEFREE

Subgroups based on the age of OCD onset, gender, familiality, factor analysis-derived symptom dimensions, or comorbidity with other psychiatric disorders failed to identify SLC6A4- or BDNF-associated phenotypes, with one exception of overall number of comorbid anxiety disorders being significantly associated with 5-HTTLPR/rs25531.

17375136

2007

dbSNP:

rs25531

Entrez Id:	6532;105371720
Gene Symbol:	SLC6A4;LOC105371720

SLC6A4;LOC105371720

CUI:	C0233514
Disease:

Abnormal behavior

0.050

GeneticVariation

BEFREE

Rs25532 CC genotype showed significant association with OCD in men and were detected more in the patients reported positive family history of psychiatric disorders but the other single loci (5-HTTLPR and rs25531) did not associate with OCD.

28691545

2018

dbSNP:

rs2066713

Entrez Id:	6532
Gene Symbol:	SLC6A4

SLC6A4

CUI:	C0233514
Disease:

Abnormal behavior

0.010

GeneticVariation

BEFREE

31595439

2020

dbSNP:

rs3813034

Entrez Id:	6532
Gene Symbol:	SLC6A4

SLC6A4

CUI:	C0233514
Disease:

Abnormal behavior

0.010

GeneticVariation

BEFREE

rs3813034 is a functional polymorphism in the serotonin transporter that alters the balance of the two polyadenylation forms of the serotonin transporter. rs3813034 is a putative risk factor for PD and other behavioral disorders that involve dysregulation of serotonergic neurotransmission.

19969287

2010

dbSNP:

rs4251417

Entrez Id:	6532
Gene Symbol:	SLC6A4

SLC6A4

CUI:	C0233514
Disease:

Abnormal behavior

0.010

GeneticVariation

BEFREE

31595439

2020

dbSNP:

rs6354

Entrez Id:	6532
Gene Symbol:	SLC6A4

SLC6A4

CUI:	C0233514
Disease:

Abnormal behavior

0.010

GeneticVariation

BEFREE

31595439

2020

dbSNP:

rs7224199

Entrez Id:	6532
Gene Symbol:	SLC6A4

SLC6A4

CUI:	C0233514
Disease:

Abnormal behavior

0.010

GeneticVariation

BEFREE

31595439

2020

dbSNP:

rs25531

Entrez Id:	6532;105371720
Gene Symbol:	SLC6A4;LOC105371720

SLC6A4;LOC105371720

CUI:	C0001723
Disease:

Affective Disorders, Psychotic

0.010

GeneticVariation

BEFREE

Two polymorphisms in the 5-HTT gene (a 44 bp insertion/deletion in the promoter region and the functional polymorphism rs25531) were genotyped in a sample of 147 drug-naïve patients experiencing a first episode of a non-affective psychosis.

20031235

2010

dbSNP:

rs25531

Entrez Id:	6532;105371720
Gene Symbol:	SLC6A4;LOC105371720

SLC6A4;LOC105371720

CUI:	C0001973
Disease:

Alcoholic Intoxication, Chronic

0.020

GeneticVariation

BEFREE

31595439

2020

dbSNP:

rs25531

Entrez Id:	6532;105371720
Gene Symbol:	SLC6A4;LOC105371720

SLC6A4;LOC105371720

CUI:	C0001973
Disease:

Alcoholic Intoxication, Chronic

0.020

GeneticVariation

BEFREE

Comparing AD and control populations and taking into account statistical correction for multiple testing, we found no statistically significant differences for 5-HTTLPR (L/S) and rs25531 polymorphisms in terms of either genotypes or alleles frequencies.

25770138

2015

dbSNP:

rs1042173

Entrez Id:	6532
Gene Symbol:	SLC6A4

SLC6A4

CUI:	C0001973
Disease:

Alcoholic Intoxication, Chronic

0.010

GeneticVariation

BEFREE

Subsequent analysis of these two interaction models revealed an OR of 2.71 and 2.80, respectively, for AD (P < 0.001) in carriers of genotype combinations 5'-HTTLPR:LL/LS(SLC6A4)-rs1042173:TT/TG(SLC6A4)-rs1176744:AC(HTR3B)-rs3782025:AG(HTR3B) and 5'-HTTLPR:LL/LS(SLC6A4)-rs10160548:GT/TT(HTR3A)-rs1176744:AC(HTR3B)-rs3782025:AG(HTR3B).

23757001

2013

dbSNP:

rs2066713

Entrez Id:	6532
Gene Symbol:	SLC6A4

SLC6A4

CUI:	C0001973
Disease:

Alcoholic Intoxication, Chronic

0.010

GeneticVariation

BEFREE

31595439

2020

dbSNP:

rs4251417

Entrez Id:	6532
Gene Symbol:	SLC6A4

SLC6A4

CUI:	C0001973
Disease:

Alcoholic Intoxication, Chronic

0.010

GeneticVariation

BEFREE

31595439

2020

dbSNP:

rs25531

Entrez Id:	6532;105371720
Gene Symbol:	SLC6A4;LOC105371720

SLC6A4;LOC105371720

CUI:	C0002395
Disease:

Alzheimer's Disease

0.030

GeneticVariation

BEFREE

The distributions of 5-HTT-LPR and rs25531 polymorphisms in AD subjects were not different from those of controls.

27414430

2016

dbSNP:

rs25531

Entrez Id:	6532;105371720
Gene Symbol:	SLC6A4;LOC105371720

SLC6A4;LOC105371720

CUI:	C0002395
Disease:

Alzheimer's Disease

0.030

GeneticVariation

BEFREE

We conclude that 5-HTTLPR and rs25531 are not major genetic modulators of BPSD development in AD.

19625753

2009

dbSNP:

rs25531

Entrez Id:	6532;105371720
Gene Symbol:	SLC6A4;LOC105371720

SLC6A4;LOC105371720

CUI:	C0002395
Disease:

Alzheimer's Disease

0.030

GeneticVariation

BEFREE

31595439

2020

dbSNP:

rs2066713

Entrez Id:	6532
Gene Symbol:	SLC6A4

SLC6A4

CUI:	C0002395
Disease:

Alzheimer's Disease

0.010

GeneticVariation

BEFREE

31595439

2020

dbSNP:

rs4251417

Entrez Id:	6532
Gene Symbol:	SLC6A4

SLC6A4

CUI:	C0002395
Disease:

Alzheimer's Disease

0.010

GeneticVariation

BEFREE

31595439

2020

dbSNP:

rs6354

Entrez Id:	6532
Gene Symbol:	SLC6A4

SLC6A4

CUI:	C0002395
Disease:

Alzheimer's Disease

0.010

GeneticVariation

BEFREE

31595439

2020

dbSNP:

rs7224199

Entrez Id:	6532
Gene Symbol:	SLC6A4

SLC6A4

CUI:	C0002395
Disease:

Alzheimer's Disease

0.010

GeneticVariation

BEFREE

31595439

2020

dbSNP:

rs1042173

Entrez Id:	6532
Gene Symbol:	SLC6A4

SLC6A4

CUI:	C0522254
Disease:

Analgesic Overuse Headache

0.010

GeneticVariation

BEFREE

Although a minor contribution of SLC6A4 variants in the genetic liability of MOH cannot be excluded, haplotype-based analysis of STin2 VNTR and rs1042173T>G polymorphisms allowed to identify a subgroup of MOH patients with a higher number of monthly headache and, possibly, with a more severe disease.

21585624

2012

dbSNP:

rs25531

Entrez Id:	6532;105371720
Gene Symbol:	SLC6A4;LOC105371720

SLC6A4;LOC105371720

CUI:	C0178417
Disease:

Anhedonia

0.010

GeneticVariation

BEFREE

Although preliminary, these findings identify anhedonia as a promising mechanism linking 5-HTTLPR/rs25531 genotype and stress to depression.

22094432

2012