SLC6A4, solute carrier family 6 member 4, 6532

N. diseases: 440; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28914832
rs28914832
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
CUI: C4016373
Disease:
OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO
C 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs774676466
rs774676466
Entrez Id: 6532;105371720
Gene Symbol: SLC6A4;LOC105371720
SLC6A4;LOC105371720
CUI: C4016375
Disease:
SEROTONIN TRANSPORTER ACTIVITY, INCREASED/DECREASED
A 0.700 CausalMutation CLINVAR
dbSNP: rs6352
rs6352
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
CUI: C0005586
Disease:
Bipolar Disorder
0.010 GeneticVariation BEFREE We conducted, 1) a mutation search of SLC6A4, 2) LD mapping to select 'tagging' markers (10 SNPs and 5HTTVNTR, while 5HTTLPR was treated as an independent marker because of its allelic form), and 3) association analysis of these 'tagging' markers and independent markers (5HTTLPR and Asn605Lys) with SCZ and BP in Japanese patients. 16082508 2006
dbSNP: rs6352
rs6352
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE We conducted, 1) a mutation search of SLC6A4, 2) LD mapping to select 'tagging' markers (10 SNPs and 5HTTVNTR, while 5HTTLPR was treated as an independent marker because of its allelic form), and 3) association analysis of these 'tagging' markers and independent markers (5HTTLPR and Asn605Lys) with SCZ and BP in Japanese patients. 16082508 2006
dbSNP: rs25531
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
rs25531
Entrez Id: 6532;105371720
Gene Symbol: SLC6A4;LOC105371720
SLC6A4;LOC105371720
CUI: C0028768
Disease:
Obsessive-Compulsive Disorder
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
rs25531
Entrez Id: 6532;105371720
Gene Symbol: SLC6A4;LOC105371720
SLC6A4;LOC105371720
CUI: C0004936
Disease:
Mental disorders
0.040 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
rs25531
Entrez Id: 6532;105371720
Gene Symbol: SLC6A4;LOC105371720
SLC6A4;LOC105371720
CUI: C0011570
Disease:
Mental Depression
0.100 GeneticVariation BEFREE To further delineate the impact of 5-HTT gene variation on psychopathology in depression, in this analysis the influence of the 5-HTTLPR and the functionally closely related 5-HTT rs25531 was investigated in 340 Caucasian patients with a major depressive episode (DSM-IV) with particular attention to the subtype of depression (melancholic depression versus atypical depression) applying logistic regression models adjusted for age and gender. 18050262 2008
dbSNP: rs25531
rs25531
Entrez Id: 6532;105371720
Gene Symbol: SLC6A4;LOC105371720
SLC6A4;LOC105371720
CUI: C0344315
Disease:
Depressed mood
0.100 GeneticVariation BEFREE To further delineate the impact of 5-HTT gene variation on psychopathology in depression, in this analysis the influence of the 5-HTTLPR and the functionally closely related 5-HTT rs25531 was investigated in 340 Caucasian patients with a major depressive episode (DSM-IV) with particular attention to the subtype of depression (melancholic depression versus atypical depression) applying logistic regression models adjusted for age and gender. 18050262 2008
dbSNP: rs25531
rs25531
Entrez Id: 6532;105371720
Gene Symbol: SLC6A4;LOC105371720
SLC6A4;LOC105371720
CUI: C0011581
Disease:
Depressive disorder
0.100 GeneticVariation BEFREE To further delineate the impact of 5-HTT gene variation on psychopathology in depression, in this analysis the influence of the 5-HTTLPR and the functionally closely related 5-HTT rs25531 was investigated in 340 Caucasian patients with a major depressive episode (DSM-IV) with particular attention to the subtype of depression (melancholic depression versus atypical depression) applying logistic regression models adjusted for age and gender. 18050262 2008
dbSNP: rs25531
rs25531
Entrez Id: 6532;105371720
Gene Symbol: SLC6A4;LOC105371720
SLC6A4;LOC105371720
CUI: C0154437
Disease:
Atypical depressive disorder
0.010 GeneticVariation BEFREE To further delineate the impact of 5-HTT gene variation on psychopathology in depression, in this analysis the influence of the 5-HTTLPR and the functionally closely related 5-HTT rs25531 was investigated in 340 Caucasian patients with a major depressive episode (DSM-IV) with particular attention to the subtype of depression (melancholic depression versus atypical depression) applying logistic regression models adjusted for age and gender. 18050262 2008
dbSNP: rs25531
rs25531
Entrez Id: 6532;105371720
Gene Symbol: SLC6A4;LOC105371720
SLC6A4;LOC105371720
CUI: C0024517
Disease:
Major depression, single episode
0.010 GeneticVariation BEFREE To further delineate the impact of 5-HTT gene variation on psychopathology in depression, in this analysis the influence of the 5-HTTLPR and the functionally closely related 5-HTT rs25531 was investigated in 340 Caucasian patients with a major depressive episode (DSM-IV) with particular attention to the subtype of depression (melancholic depression versus atypical depression) applying logistic regression models adjusted for age and gender. 18050262 2008
dbSNP: rs25531
rs25531
Entrez Id: 6532;105371720
Gene Symbol: SLC6A4;LOC105371720
SLC6A4;LOC105371720
CUI: C0025193
Disease:
Melancholia
0.010 GeneticVariation BEFREE Also, the more active 5-HTTLPR/5-HTT rs25531 haplotype L(A)L(A) conveyed a significant risk for melancholic depression (OR 2.0; 95%CI 1.3-3.1; P=0.001), again only in the female subsample of patients (OR 2.1; 95%CI 1.1-4.1; P=0.02). 18050262 2008
dbSNP: rs25532
rs25532
Entrez Id: 6532;105371720
Gene Symbol: SLC6A4;LOC105371720
SLC6A4;LOC105371720
CUI: C0028768
Disease:
Obsessive-Compulsive Disorder
0.030 GeneticVariation BEFREE Haplotype-based testing of rs25532 and all other known non-coding functional SLC6A4 variants revealed a highly significant omnibus association with OCD in a large case-control sample. 18055562 2008
dbSNP: rs25531
rs25531
Entrez Id: 6532;105371720
Gene Symbol: SLC6A4;LOC105371720
SLC6A4;LOC105371720
CUI: C0038454
Disease:
Cerebrovascular accident
0.010 GeneticVariation BEFREE There were significant intergroup differences in the allelic frequencies of 5-HTTLPR/rs25531 (SA, LA, and LG) (P < 0.05) and in the combined frequencies of lower-expressing alleles (SA and LG) and higher-expressing alleles (LA) (P < 0.025) between subjects with PSD and nondepressed stroke. 18441666 2008
dbSNP: rs25531
rs25531
Entrez Id: 6532;105371720
Gene Symbol: SLC6A4;LOC105371720
SLC6A4;LOC105371720
CUI: C0005874
Disease:
Blushing
0.010 GeneticVariation BEFREE The less active 5-HTTLPR genotypes were nominally significantly associated with increased blushing propensity in patients with social anxiety disorder as compared to controls with an equidirectional trend for the less active 5-HTTLPR/rs25531 haplotypes. 18629430 2009
dbSNP: rs25531
rs25531
Entrez Id: 6532;105371720
Gene Symbol: SLC6A4;LOC105371720
SLC6A4;LOC105371720
CUI: C0031572
Disease:
Phobia, Social
0.010 GeneticVariation BEFREE Therefore, in the present study 62 patients with social anxiety disorder and 62 age- and sex-matched healthy controls were investigated for the influence of serotonin transporter (5-HTT) gene variation (5-HTTLPR, rs25531) on blushing propensity as measured by the blushing propensity scale (BPS). 18629430 2009
dbSNP: rs140701
rs140701
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
CUI: C0085159
Disease:
Seasonal Affective Disorder
0.010 GeneticVariation BEFREE SLC6A4 provided strong and consistent evidence of association with the PD and PD+SAD groups, with the most significant association in both groups being at rs140701 (chi(2)=10.72, P=0.001 with PD and chi(2)=8.59, P=0.003 in the PD+SAD group). 18663369 2010
dbSNP: rs140701
rs140701
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
CUI: C0030319
Disease:
Panic Disorder
0.010 GeneticVariation BEFREE SLC6A4 provided strong and consistent evidence of association with the PD and PD+SAD groups, with the most significant association in both groups being at rs140701 (chi(2)=10.72, P=0.001 with PD and chi(2)=8.59, P=0.003 in the PD+SAD group). 18663369 2010
dbSNP: rs4583306
rs4583306
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
CUI: C0030319
Disease:
Panic Disorder
0.010 GeneticVariation BEFREE Those carrying at least one copy of the haplotype A-A-G constructed from rs3794808, rs140701 and rs4583306 have 1.7 times the odds of PD than those without the haplotype (95% confidence interval: 1.2-2.3). 18663369 2010
dbSNP: rs4795541
rs4795541
Entrez Id: 6532;105371720
Gene Symbol: SLC6A4;LOC105371720
SLC6A4;LOC105371720
CUI: C0751072
Disease:
Frontotemporal Lobar Degeneration
0.010 GeneticVariation BEFREE In summary, the rs4795541 might be important for FTLD susceptibility in the Italian population. 19020798 2008
dbSNP: rs25531
rs25531
Entrez Id: 6532;105371720
Gene Symbol: SLC6A4;LOC105371720
SLC6A4;LOC105371720
CUI: C0022104
Disease:
Irritable Bowel Syndrome
0.010 GeneticVariation BEFREE Carriers of the rare G allele of rs25531 had approximately threefold increased odds of irritable bowel syndrome compared with healthy controls (OR 3.3, 95% CI 1.1-9.6). 19125330 2009
dbSNP: rs3794808
rs3794808
Entrez Id: 6532
Gene Symbol: SLC6A4
SLC6A4
CUI: C0525045
Disease:
Mood Disorders
0.010 GeneticVariation BEFREE Three genes contributed exclusively to mood disorders, one through a main effect (HTR5A (rs1657268)) and two through gene-environment interactions with CPA (HTR1A (rs878567) and SLC6A4 (rs3794808)). 19381154 2010
dbSNP: rs25531
rs25531
Entrez Id: 6532;105371720
Gene Symbol: SLC6A4;LOC105371720
SLC6A4;LOC105371720
CUI: C0086132
Disease:
Depressive Symptoms
0.040 GeneticVariation BEFREE We found no evidence for an association between variants of 5-HTTLPR and rs25531 alleles, and depressive symptoms in Chinese PD patients. 19429111 2009
dbSNP: rs25531
rs25531
Entrez Id: 6532;105371720
Gene Symbol: SLC6A4;LOC105371720
SLC6A4;LOC105371720
CUI: C0030567
Disease:
Parkinson Disease
0.030 GeneticVariation BEFREE The present study is to investigate the association between the polymorphisms in the promoter of the 5-HTT gene (including 5-HTTLPR and rs25531), which determine either a higher or lower 5-HT uptake, and risk for depression of PD. 19429111 2009