ADHDgene Database
  • Published Variant
  • Published Gene: 359
  • Published Region: 128
  • Pathway by PBA: 8
  • Study: 361

Gene Report

Basic Info
Approved Symbol SLC6A4
Previous Symbol HTT, OCD1
Symbol Alias 5-HTT, SERT1
Approved Name solute carrier family 6 (neurotransmitter transporter), member 4
Previous Name "solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"
Name Alias "serotonin transporter 1"
Location 17q11.2
Position chr17:28521337-28563020, -1
External Links HGNC: 11050
Entrez Gene: 6532
Ensembl: ENSG00000108576
UCSC: uc002hey.5
No. of Studies 26 (significant: 13; non-significant: 13; trend: 0)
Source Literature-origin; Mapped by Literature SNP

Gene related studies (count: 26)
Reference Statistical Values/Author Comments Result of Statistical Analysis
Zoroglu SS, 2002 The lack of an S/S variant of 5-HTTLPR polymorphism of the STin2.12/12 variant of VNTR polymorphism appears to be associated with an increased risk of ADHD. Significant
Xu X, 2005(b) a three-marker haplotype, long-allele/9-repeat-allele/T-allele, ETDT: X2=4.5, P-value=0.034; HHRR: X2=3.6, P-value=0.058; TRANSMIT: X2=1.9, P-value=0.167; there was some evidence for preferential transmission in the UK sample, but no evidence in the Taiwanese sample or for association with other haplotypes Significant
Grevet EH, 2007 The 5-HTTLPR polymorphism was not associated with ADHD Non-significant
Brookes K, 2006 UNPHASED TDT P-value=0.194, global P-value=0.832, WHAP TDT P_sum P-value=0.295, no SNP with nominal P-value<0.05 located in this gene Non-significant
Heiser P, 2007 2 polymorphisms and 1 SNP showed no association to ADHD in their sample Non-significant
Guimaraes AP, 2007 No evidences for biased transmission of the allele for SLC6A4 polymorphism to the ADHD probands were observed. Non-significant
Langley K, 2003 TRANSMIT P-value=0.981 (simulated), X2=0.204, degrees of freedom=3; HAPMAX P-value=0.708 (simulated), X2=1.488, degrees of freedom=3; haplotype analysis using both HAPMAX and TRANSMIT showed no evidence of association Non-significant
Kim SJ, 2005 haplotype (5-HTTLPR/intron2 VNTR) global P-value=0.2 for ADHD pooled together, global P-value=0.07 for ADHD without ADHD NOS Subtype; failed to detect transmission disequilibrium Non-significant
Spencer, T. J., 2012 the gene frequencies of each of the gene polymorphisms assessed did not differ between the ADHD and control groups. Non-significant
Martinez-Levy, G. A.,2013 No significant association was found for SLC6A3 and SLC6A4 genes. Non-significant
Xu X, 2008(a) TDT P-value>0.05 of the haplotypes for 5-HTTLPR and STin2-VNTR Polymorphisms, not significantly associated with ADHD Non-significant
Wigg KG, 2006 no evidence of biased transmission of any of the polymorphisms and haplotypes was observed Non-significant
Zhao AL, 2005 no significant associations were seen between 5-HTTLPR and ADHD Non-significant
Li J, 2007 Haplotype TRANSMIT Analysis: global P-value=0.10 for ADHD, P-value=0.12 for ADHD-C, P-value=0.31 for ADHD-I; in ADHD, P-value=0.013 for haplotype L/10, P-value=0.027 for L/12; in ADHD-C, P-value=0.033 for L/12; in ADHD-I, P-value=0.110 for L/10. Preferential transmission of the S allele of the 5-HTTLPR polymorphism to probands with ADHD was found. L/10 haplotype was over-transmitted, while L/12 was under-transmitted to probands with ADHD. Significant
Manor I, 2001 the results showed an association between the 5-HTTLPR polymorphism and ADHD Significant
Nyman ES, 2007 Four SNPs in 5-HTT are nominally associated, including an SNP in the 3' flanking region (rs1979572) and three intronic SNPs. Significant
Oades RD, 2008 1 polymorphism showed significant association Significant
Hawi Z, 2005 one marker showed significant overtransmission of paternal alleles; paternal versus maternal transmissions, combined TDT P-value=0.0019, X2=9.6 (1df), OR=1.56; TDT P-value=0.0085, X2=6.9 when SERT was removed in sensitivity analysis Significant
Ilott NE, 2010 2 SNPs showed modest, nominally significant association in the AW tests at age 3 Significant
Kent L, 2002 ETDT haplotype analysis: P=0.004 for Promoter/3'UTR, P=0.03 for VNTR/3'UTR. Current study demonstrated preferential transmission of the T allele of the 3' UTR polymorphism in the serotonin transporter in a sample of 113 ADHD trios in addition to preferential transmission of haplotypes containing the T allele of the 3' UTR, as well as the long allele of the promoter polymorphism (a finding also supported by the pooled analysis). Significant
Landaas ET, 2010 rs140700 was significantly associated in the Norwegian sample; 4 SNPs had significant associations with the Norwegian females; but meta-analysis refuted a strong effect Significant
Banerjee E, 2006 Pair-wise combination of alleles comprising the 5-HTTLPR and STin2 polymorphic, X2 =14.74, df=1; P-value=0.0001 Significant
Beitchman JH, 2003 5HTT VNTR polymorphism was significantly associated with aggressive behavior and 5HTTLPR was significantly associate with ADHD Significant
Gizer IR, 2009 The present study provides significant evidence of an association between ADHD and the 5HTTLPR, but failed to detect an association with the STin2 and rs3813034 polymorphisms. Significant
Bidwell LC, 2011 The current study did not replicate previous associations with ADHD and the 5HTT gene. Non-significant
Biederman J, 2008 no SNP showed evidence of association Non-significant

Gene related SNPs (count: 27)

Literature-origin SNPs (count: 15)

LD-proxies (count: 12)


Gene related CNVs (count: 0)

Gene related other variant (count: 5)

Gene related regions (count: 0)

Gene related GO terms (count: 43)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 43)


Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with SLC6A4 (count: 32)

Genes shared at least 2 KEGG pathways with SLC6A4 (count: 0)

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Region: chr17:28521337..28563020 View in gBrowse
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