MK4MDD

Gene Report

Basic Information
Approved Symbol SLC6A4
Approved Name solute carrier family 6 (neurotransmitter transporter), member 4
Previous Symbol HTT, OCD1
Previous Name "solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"
Symbol Alias 5-HTT, SERT1
Name Alias "serotonin transporter 1"
Location 17q11.2
Position chr17:28562631-28562986 (-)
External Links Entrez Gene: 6532
Ensembl: ENSG00000108576
UCSC: uc002hey.5
HGNC ID: 11050
No. of Studies (Positive/Negative) 56(44/12) Help
Type Literature-origin; Protein mapped

Positive relationships between SLC6A4 and MDD (count: 23)
Name in Literature Reference Research Type Statistical Result Relation Description Help
SLC6A4 Garriock, 2006 patients and normal controls P-value=0.004 A statistically significant difference in genotype frequency...... A statistically significant difference in genotype frequency for the SLC6A4 intron 2 VNTR was detected between the subjects with a history of depression and controls (p = 0.004). More...
serotonin transporter gene Sarosi, 2008 patients and normal controls We found a significantly higher frequency of the STin2.10/St...... We found a significantly higher frequency of the STin2.10/Stin2.10 homozygous genotype in the depressed group compared to controls. In the depressed group subjects with at least one copy of the 10-repeat allele showed decreased interference threshold in Stroop III compared to patients without the 10-repeat allele. More...
Huntingtin (HTT) erlis, 2010 patients and normal controls In clinical populations of individuals diagnosed with major ...... In clinical populations of individuals diagnosed with major depression, approximately 3 in 1,000 carried expanded HTT CAG alleles More...
5-HTTLPR Eker, 2011 patients and normal controls The 5-HTTLPR polymorphism has an effect on hippocampal volum...... The 5-HTTLPR polymorphism has an effect on hippocampal volumes of depressed patients, which is apparent only in S/S genotype. More...
serotonin transporter gene Alexopoulos, 2009 patients only Depressed elderly S-allele carriers also had lower FA (fract...... Depressed elderly S-allele carriers also had lower FA (fractional anisotropy) than L homozygotes in frontolimbic brain areas, More...
serotonin transporter gene Battersby, 1996 patients and normal controls There was a significant difference between patients with aff...... There was a significant difference between patients with affective disorder and controls in the proportion of individuals carrying the STin2.9 allele More...
5-HTT Nellissery, 2003 patients and normal controls The frequency of the short allele in the patient group was i...... The frequency of the short allele in the patient group was in the range of those previously reported for samples with unipolar depression but was significantly more common than among controls (short allele frequency of cases, 45.8%; controls, 39.8%; chi(2)(1) = 4.02; p = 0.045). More...
5-HTTLPR Hoefgen, 2005 patients and normal controls P-value=0.006; odds ratio = 1.26 The short allele of 5-HTTLPR was significantly more frequent...... The short allele of 5-HTTLPR was significantly more frequent in patients than in control subjects (45.5% vs. 39.9%; p = .006; odds ratio = 1.26). More...
5-HTT Kendler KS, 2005 nomal people Individuals with 2 short (S) alleles at the 5-HTT locus wer...... Individuals with 2 short (S) alleles at the 5-HTT locus were more sensitive to the depressogenic effects of all SLEs than were those with 1 or 2 long (L) alleles. When level of SLE-associated threat was examined, the interaction between genotype and SLE resulted from an increased sensitivity of SS individuals to the depressogenic effects of common low-threat events. These events had little impact on risk for those possessing the SL and LL genotypes. The 5-HTT genotype did not modify the effects of SLEs on risk for generalized anxiety syndrome. More...
5-HTTLPR Lenze, 2005 patients and normal controls Survival analysis showed that genotype significantly predict...... Survival analysis showed that genotype significantly predicted time-to-major depressive episode. Subjects with an s allele (genotype s/l or s/s) had significantly higher Ham-D scores over 14 weeks of follow-up than those with the l/l genotype. More...
Serotonin transporter Lima, 2005 patients and normal controls There was a significant reduction in mRNA in depressed patie...... There was a significant reduction in mRNA in depressed patients expressing the long allele. More...
5HTT Munafo, 2006 patients and normal controls P-value=0.04 5HTT-LPR genotype was significantly associated with both neu...... 5HTT-LPR genotype was significantly associated with both neuroticism (p=0.02) and lifetime major depression (p=0.04), and neuroticism with lifetime major depression (p<0.001) More...
serotonin transporter gene (SERTPR) Mandelli L, 2007 Patients and nomal controls chi2=6.70, d.f.=2, p=0.035 COMT was associated with depression following exposure to s...... COMT was associated with depression following exposure to stressors (chi2=13.05, d.f.=2, p=0.0015) and SERTPR also showed a positive association (chi2=6.70, d.f.=2, p=0.035), mainly among women and among major depressives. The interaction between COMT and SERTPR was also significant (p=0.0005). More...
SERT Bozina, 2006 patients and normal controls P-value=0.04 The proportion of SERT-in2 short (s) alleles was significant...... The proportion of SERT-in2 short (s) alleles was significantly higher among MDD patients in comparison to healthy subjects (p = 0.04). More...
5-HTTLPR Neumeister, 2006 patients and normal controls A direct effect of 5-HTTLPR on the regulation of regional ce...... A direct effect of 5-HTTLPR on the regulation of regional cerebral metabolic rates for glucose was identified in patients with rMDD for the amygdala, hippocampus, and subgenual anterior cingulate cortex. More...
5-HTTLPR Dorado, 2007 patients and normal controls P-value<0.05 The frequency of subjects carrying the 5-HTTLPR-S allele was...... The frequency of subjects carrying the 5-HTTLPR-S allele was higher (P < 0.05) among MDD than in HV. More...
SLC6A4 Domotor, 2007 patients and normal controls chi2 = 6,01, df = 2, P-value < 0.05 We found a significantly higher frequency of the STin2 10/10...... We found a significantly higher frequency of the STin2 10/10 homozygous genotype in the MDD patients' group compared to controls (chi2 = 6,01, df = 2, p < 0.05) More...
5HTTLPR Philibert, 2008 patients and normal controls P-value < 0.0001 We confirmed prior findings that the short (s) 5HTTLPR allel...... We confirmed prior findings that the short (s) 5HTTLPR allele is associated with lower amounts of mRNA transcription, but there was no significant effect of the Long G allele on mRNA transcription. We also found that CpG methylation was higher (P < 0.0008) and mRNA production (P < 0.0001) was lower in females as compared to males. More...
5-HTTLPR Contreras J, 2009 Patients and nomal controls P < 0.02; odds ratio= 2.18; 95% CI= 1.10-4.20 We found that persons carrying at least one short allele had...... We found that persons carrying at least one short allele had a statistically significant increased lifetime risk for depressive syndromes (P < 0.02, odds ratio 2.18, 95% CI 1.10-4.20). More...
SLC6A4 Wray NR, 2009 Patients and nomal controls p = 0.0062 We found evidence for association (p = .0062, after accounti...... We found evidence for association (p = .0062, after accounting for multiple testing) for SLC6A4 SNPs rs6354 and rs2020936 (positioned in a different linkage disequilibrium [LD] block about 15.5 kb from 5HTTLPR) with anxiety and/or depression and neuroticism, with the strongest association for recurrent depression with onset in young adulthood (odds ratio = 1.55, 95% confidence interval = 1.16-2.06). More...
SLC6A4 Noskova, 2009 patients and normal controls The results of the study suggest that genotype 10/10 of the ...... The results of the study suggest that genotype 10/10 of the SLC6A4 gene as well as genotype G/G and allele G of the HTR2A gene can predispose for increased risk of unipolar depression development in ethnic Russians. More...
SLC6A4 Belzeaux, 2010 patients and normal controls We also observed that variations in other mRNA expression we...... We also observed that variations in other mRNA expression were associated with treatment efficacy or clinical improvement (CREB1, HDAC5, HSPA2, HTR1B, HTR2A, and SLC6A4/5HTT). More...
serotonin transporter gene Sarosi, 2011 patients and normal controls We found a significantly higher frequency of the STin2 10/10...... We found a significantly higher frequency of the STin2 10/10 genotype in the MDD patient group compared to controls. More...

Positive relationships between SLC6A4 and other components at different levels (count: 47) Help
Genetic/epigenetic locus   Protein and other molecule   Cell and molecular pathway   Neural system   Cognition and behavior   Symptoms and signs   Environment
SNP Gene Region Epigenetic site Protein Molecule Pathway Cell Neurobiological system Brain morphology and function Cognition and behavior Symptoms Signs Environment


Positive relationship network of SLC6A4 in MK4MDD
Network loading ...

Note:
1. The different color of the nodes denotes the level of the nodes.
Genetic/Epigenetic Locus Protein and Other Molecule Cell and Molecular Pathway Neural System Cognition and Behavior Symptoms and Signs Environment MDD
Genetic/Epigenetic Locus Protein and Other Molecule Cell and Molecular Pathway Neural System Cognition and Behavior Symptoms and Signs Environment MDD
2. Besides the component related relationships from literature, gene mapped protein and protein mapped gene are also shown in the network. If the mapped gene or protein is not from literature, square node would be used instead of Circle node. Accordingly, the relationship is marked with dot line.
2. User can drag the nodes to rearrange the layout of the network. Click the node will enter the report page of the node. Right-click will show also the menus to link to the report page of the node and remove the node and related edges. Hover the node will show the level of the node and hover the edge will show the evidence/description of the edge.
3. The network is generated using Cytoscape Web Cytoscape Web
Negative relationships between SLC6A4 and MDD (count: 9)
Name in Literature Reference Research Type Statistical Result Relation Description
5-HTTLPR Minov C, 2001 Patients and nomal controls No statistical significant differences between patients and ...... No statistical significant differences between patients and controls were found for any of the three investigated polymorphisms, neither in the distribution of the genotypes nor in allele frequencies. However, concerning the 5-HTTLPR polymorphism, the frequency of S/S (short allele) homozygotes was higher (23.1%) than in the control group (14.0%), but this failed to reach significance. More...
5-HTTLPR Rujescu D, 2001 Patients and nomal controls There was no significant difference in allele or genotype f...... There was no significant difference in allele or genotype frequency between patients and control subjects. There were also no differences when the patients were divided into several subgroups (suicide attempters with a violent method, and suicide attempters with a lifetime history of mood disorders, unipolar depression, personality disorders). More...
5-HTT Yen FC, 2003 Patients and nomal controls we investigated the prevalence of this polymorphism in an i...... we investigated the prevalence of this polymorphism in an independent Chinese population (83 bipolar disorder patients, 77 major depressive disorder patients and 169 controls), demonstrating no significant association between the 5-HTTVNTR polymorphism and mood disorders or age at onset. More...
SLC6A4 Willis-Owen SA, 2005 nomal people No statistically significant effects of genotype could be id...... No statistically significant effects of genotype could be identified on either N or MD phenotypes (in all cases, p > or = .26), independently of the genetic mode of action applied. More...
5-HTTLPR Middeldorp CM, 2007 nomal people No additive effect of the s allele was found for DSM-IV depr...... No additive effect of the s allele was found for DSM-IV depression More...
5-HTT Zaboli G, 2008 Patients and nomal controls Haplotype-based analyses showed significant associations bet...... Haplotype-based analyses showed significant associations between 5-HTT and SCZ but not MDD. More...
5-HTT Fisher HL, 2012 Patients and nomal controls There was no main effect of 5-HTTLPR on depression and no e...... There was no main effect of 5-HTTLPR on depression and no evidence of interaction between total SLEs and any of the 5-HTTLPR genetic models More...
5-HTTLPR Gutierrez, 2015 patients only 5-HTTLPR triallelic polymorphism(¦Ö2=2.46, P=0.29);5-HTTLPR biallelic polymorphism(¦Ö2=0.27,P=0.87) Genotype frequencies were found to be in Hardy¨CWeinberg equ...... Genotype frequencies were found to be in Hardy¨CWeinberg equilibrium in the whole sample (5-HTTLPR triallelic poly-morphism: ¦Ö2=2.46, P=0.29,5-HTTLPR biallelic polymorphism: ¦Ö2=0.27,P=0.87;BDNF Val66Met polymorphism: ¦Ö2=0.02, P=0.99)and separately in participants with MD at any point over the follow-up period and participants without this condition.Table 2 shows crude and adjusted main effects of SERT, BDNF and childhood maltreatment variables on MD. In brief, variation at the SERT 5-HTTLPR triallelic polymorphism was not found to be associated with MD. The analysis of the 5- HTTLPR biallelic polymorphism did not yield significant results either. However, the risk for MD was significantly increased among Val/Val BDNF homozygous participants (OR 1.250, 95% CI 1.034¨C1.512, p = 0.019). More...
SLC6A4 Cruz-Fuentes, 2014 Patients and nomal controls ¦Ö2 = 0.4, P > 0.05 Table 1 also shows the observed genotype frequencies for the...... Table 1 also shows the observed genotype frequencies for the SLC6A4 promoter VNTR and the BDNF Val66Met polymorphisms in cases and controls; no deviation from HWE was detected in both cases: SLC6A4, ¦Ö2 = 0.4, P > 0.05; BDNF, ¦Ö2 = 0.3, P > 0.05. Moreover, no significant genotype or allele differences were observed between groups of comparison. However, when hierarchical diagnostic criteria for depression was used as the output variable, the SS SLC6A4 genotype (but not BDNF) was a predictor of major depression (Wald¡¯s statistic 5.8, P = 0.016, CI = 1.1¨C2.7). No significant gene 9 gene interaction was detected (Wald 0.54, P = 0.461). More...

Negative relationships between SLC6A4 and other components at different levels (count: 11) Help
Genetic/epigenetic locus   Protein and other molecule   Cell and molecular pathway   Neural system   Cognition and behavior   Symptoms and signs   Environment
SNP Gene Region Epigenetic site Protein Molecule Pathway Cell Neurobiological system Brain morphology and function Cognition and behavior Symptoms Signs Environment


SLC6A4 related SNPs in MK4MDD (count: 0)
SLC6A4 related proteins in MK4MDD (count: 1)
SLC6A4 related GO terms (count: 47)
SLC6A4 related KEGG pathways (count: 0)
SLC6A4 related BioCarta pathways (count: 0)
SLC6A4 related Reactome pathways (count: 0)
SLC6A4 related interactors from protein-protein interaction data in HPRD (count: 3)