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

Gene Report

Basic Info
Approved Symbol SLC6A3
Previous Symbol DAT1
Symbol Alias DAT
Approved Name solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
Name Alias dopamine transporter
Location 5p15.3
Position chr5:1392905-1445545, -
External Links HGNC: 11049
Entrez Gene: 6531
Ensembl: ENSG00000142319
UCSC: uc003jck.2
No. of Studies 68 (significant: 42; non-significant: 25; trend: 1)
Source Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 68)
Reference Statistical Values/Author Comments Result of Statistical Analysis
Holmes J, 2000 No evidence of association with the SLC6A3 polymorphism was found. Non-significant
Barr CL, 2001(a) haplotype '3' (VNTR 480-bp allele/intron 9 allele 2/exon 9 allele 2), TDT P-value=0.003, X2=9.135, significant evidence for biased transmission was detected; and there was also evidence that two of the haplotypes, haplotype '2' (VNTR 480bp allele/intron 9 allele 2/exon 9 allele 1) and haplotype '11' (VNTR 440-bp allele/intron 9 allele 2/exon 9 allele 2) were preferentially not transmitted to the ADHD children. In the TRANSMIT program, the transmission of haplotype '3' to the ADHD probands was significant (X2=7.301, P-value=0.007). There was also evidence for biased nontransmission of haplotype '2' (X2=3.624, P-value=0.057) and haplotype '11' (X2=6.042, P-value=0.014) to ADHD children. Significant
Gill M, 1997 Results in this study confirm the findings of Cook et al of an association between ADHD and the dopamine transporter gene by examining the 3' UTR VNTR polymorphism. Significant
Waldman ID, 1998 Results in this study replicated and extended previous findings of the association between the DAT1 gene and childhood ADHD by using 3'-UTR VNTR (480-bp) as marker. Significant
Chen CK, 2003 found evidence of increased transmission of the 10-repeat allele using TRANSMIT and supported the role of SLC6A3 in ADHD susceptibility among Asian populations Significant
Smith KM, 2003 no polymorphism was significantly associated with ADHD Non-significant
Hawi Z, 2003 2 markers within this gene showed significant association with ADHD; minimal 2-marker_haplotype 2.3 (VNTR-1981) P-value=0.0004, X2(1df)=12.37, global X2(13df)=21.3, P-value=0.067 which showed increased transmission to ADHD; minimal 3-marker_haplotype 4.2.3 (D5S2005-VNTR-D5S1981) P-value=0.0025, X2(1df)=9.1413, global X2(13df)=19.4, P-value=0.11 which showed a significant preferential transmission to ADHD cases Significant
Maher BS, 2002 for SLC6A3, no positive association was demostrated with ADHD in the meta-analysis and there was no support for hetergeneity between studies Non-significant
Kirley A, 2002 current study confirmed the previously reported association of SLC6A3 (480bp allele) with ADHD Significant
Todd RD, 2001(a) the results of the current study offer no support for association of the SLC6A3 gene with ADHD in a population-based sample of twins Non-significant
Roman T, 2001 no polymorphism was significantly associated with ADHD, and no main effects of SLC6A3 and ADHD by using dimensional Analyses Non-significant
Curran S, 2001 TDT analysis of 480bp repeat allele of SLC6A3 was associated with ADHD in the UK sample, but not in the Turkish sample and only a marginal change in overall significance was found in the combined analysis Significant
Feng Y, 2005(a) one haplotype of five markers, TRANSMIT P-value=0.005, X2=8.051; Global X2=38.449, 24 d.f., P-value=0.031; common haplotypes (those with frequencies>10%) X2=15.209, 3 d.f., P-value=0.002; SLC6A3 was associated with ADHD in this sample Significant
Langley K, 2005 no SNP showed significant association with ADHD; global transmit P-value=0.85 of 4-marker haplotype, yielded no evidence for association at a global level or for any specific single haplotype Non-significant
Simsek M, 2005 distribution of two common alleles (9R, 10R) and 5 rare ones (3R, 6R, 7R, 8R, 11R) had no significant differences between cases and controls Non-significant
Ouakil DP, 2005 the meta-analysis showed no significant association between ADHD and the SLC6A3 gene, but an important between-samples heterogeneity Non-significant
Bobb AJ, 2005 no polymorphism was associated with ADHD Non-significant
Bakker SC, 2005 haplotype SLC6A3, TDT P-value=0.21; SLC6A3 did not contribute substantially to ADHD in the Dutch population Non-significant
Qian Q, 2004 long repeat alleles (11-12 repeats) were associated with the disorder in the case-control analyses but not family-base analyses. Significant
Kustanovich V, 2004 No evidence for an association was found Non-significant
Gizer IR, 2009 The present study provides significant evidence suggesting an association between childhood ADHD and this gene. Significant
Doyle C, 2009 Association signal was identified in the 5' region of this gene. Significant
Gabriela ML, 2009 genotype analysis P-value=0.57, allelic analysis P-value=0.55, TDT P-value=0.8. No significant differences between groups of comparison. Non-significant
Xu X, 2009(b) For haplotype -67T/-839T: P-value=0.0004 in Tanwanese sample, P-value=0.004 in combined sample; for haplotype -67A/-839T: P-value=0.0003 in Tanwanese sample, P-value=0.001 in combined sample. 1 SNP in this gene shown association with ADHD in Taiwanese sample. Haplotype analysis shown the association between ADHD and certain haplotypes presented by these two SNPs. Significant
Aparecida da Silva M, 2011 allelic chi-square test P=0.75 (5df); genotypic chi-square test P=0.61 (9df). There is no association between adult ADHD and VNTR 3'UTR polymorphism. Non-significant
Shang CY, 2011 haplotype C/T of rs27048 and rs429699, FBAT P-value=0.008 for inattentive subtype, showing that variation in the SLC6A3 gene may primarily affect the inattentive subtype of ADHD Significant
Franke B, 2010 haplotype 9-6 formed by the 3'-UTR and Intron 8 VNTRs, logistic regression P-value<0.001, X2 =20.36, df=2; haplotype 9-6 meta-analysis, P-value=0.03, OR=1.39; P-value=0.04, OR=1.47 with ADHD hyperactivity subtypes; SLC6A3 has a modulatory rather than causative role in ADHD Significant
Silva MA, 2009 The present study provides evidence for the association between the 6-repeat allele of SLC6A3 intron 8 VNTR and ADHD in their Brazilian sample of adult patients. Significant
Das M, 2011 minimum UNPHASED P-value=0.002, X2=9.33 for 10R-6R haplotype frequencies in the case-control analysis, which showed that the 10R-6R haplotype was significantly higher in controls; minimum ETDT P-value=0.09 showed no significant over transmission of any haplotypes Significant
Sanchez-Mora C, 2011 P-value=3.04e-05, OR=1.66; P-value=2.66e-05, OR=1.74 of DRD4 L-4R and SLC6A3 9R-6R increased the risk for ADHD in both the ADHD sample as a whole and in the combined clinical subtype respectively which suggested additive effects of the DRD4 risk haplotype and the SLC6A3 gene Significant
Ilott NE, 2010 1 SNP showed modest, nominally significant association in the AT tests at ages 2 and 3 Significant
Bidwell LC, 2011 The current analysis replicated previously found associations with ADHD and 3' untranslated region of the SLC6A3 gene, with the 10-repeat allele conferring greater risk for ADHD symptoms. Significant
El-Tarras, A. E., 2012 These findings support the hypothesis that some of the MAOA and DAT1 polymorphisms have a causative role in the development of ADHD in the Saudi population. 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
Brown, A. B., 2011 These findings replicate the association of the 9R allele with adult ADHD. Significant
Hoogman, M., 2012 A higher prevalence of the risk haplotype was found in adults with ADHD compared with healthy controls, [X2= 10.04, P-value=0.002]. Significant
Kim YS, 2005 did not show preferential transmission of any allele or gene-gene interaction Non-significant
Mazei-Robison MS, 2005 multiple hSLC6A3 sequence variants were identified, including five novel variants, as well as one nonsynonymous single nucleotide polymorphism (SNP), converting Ala559 to Val (A559V). Trend
Todd RD, 2005 no significant associations were found for SLC6A3 polymorphisms using DSM-IV ADHD subtypes Non-significant
Carrasco X, 2006 SLC6A3 10-repeat alleles Fisher¡¯s exact test P-value>0.25, DRD4 7-repeat heterozygosity and SLC6A3 10 allele homozygosity Fisher¡¯s exact test P-value=0.0096; OR=12.71, suggested evidence of gene-gene interaction effects on the prevalence of ADHD in the Chilean population Significant
Kim JW, 2006 9/10 genotype chi-square P-value=0.02, OR=4.12, X2=13.45 in the ADHD probands, chi-square P-value=0.03, X2=11.60 in parents of probands; a possible association between SLC6A3 9-repeat allele and the impulsivity phenotype 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=0.013, X2=6.1 when SLC6A3 was removed in sensitivity analysis Significant
Brookes KJ, 2006(b) haplotype 10/3 of 3' UTR VNTR and intron 8 VNTR, P-value<0.001, OR=2.56, X2 =12.25 in the Taiwanese sample and P-value<0.001, OR=2.59, X2 =15.5 in the English sample, a novel association was identified Significant
Cheuk DK, 2006(b) Case-Control test: 10/10 repeat genotype P-value=0.46, OR=0.69; 9/10 repeat genotype P-value=0.26, OR=1.93. VNTR polymorphism of the SLC6A3 gene is not associated with ADHD in Chinese children Non-significant
Lim MH, 2006 10-repeat allele was preferentially transmitted to ADHD children, which supports the role of SLC6A3 in ADHD susceptibility among Asian populations Significant
Simsek M, 2006 indicated absence of any strong association between SLC6A3-VNTR polymorphism and ADHD cases in Oman Non-significant
Li D, 2006 SLC6A3 520-bp risk allele (P-value=0.05) showed a weak significant association Significant
Ohadi M, 2006 the findings provided tentative evidence of the contribution of the SLC6A3 gene core promoter polymorphism to the etiopathophysiology of ADHD at least in the Iranian population Significant
Brookes K, 2006 UNPHASED TDT P-value=0.0045, global P-value=0.109, WHAP TDT P_sum P-value=0.042; OR=1.26, one or more SNPs with nominal P-value<0.05 located in this gene Significant
Qian Q, 2007 Logistic Regression Analysis: P-value=0.038, OR=3.066, 95%CI=1.064-8.835. Result show that the effects of the risk alleles of SLC6A3 found in the univariate analyses remained significant after partialing out the effects of the other putative risk alleles. Significant
Genro JP, 2007 Results in this study suggest a role for the promoter region of SLC6A3 gene in ADHD susceptibility in the Brazilian sample. Significant
Asherson P, 2007 haplotype-specific P-value=0.002, OR=1.27. VNTR polymorphisms in its 3' UTR and intron 8 were associated with combined ADHD. Significant
Das M, 2007 SLC6A3 3'-UTR 9R allele was proved to be over-transmitted in ADHD subjects. Significant
Bruggemann D, 2007 no association was found, neither when testing single markers nor haplotypes Non-significant
Friedel S, 2007 nominal P-value=0.000034 for family-based association study of haplotypes of SNPs rs6350-rs403636-rs463379. solid association for a single SNP and a haplotype in this gene were shown. Significant
Yang B, 2007 Evidence of a small but significantly positive association between the SLC6A3 10 repeat allele and ADHD was shown. Significant
Nyman ES, 2007 Some evidence of association was found for a SNP (rs12516948) in the 3'-UTR of SLC6A3. Significant
Banoei MM, 2008 no association between the SLC6A3 10-repeat allele and ADHD Non-significant
Ouellet-Morin I, 2008 a significant association was found for the rs27072 polymorphism and symptoms of inattention and hyperactivity/ impulsivity Significant
Johansson S, 2008 no association between ADHD and the SLC6A3 polymorphism Non-significant
Langley K, 2009 SLC6A3 480 bp VNTR is not associated with persistent ADHD or baseline ADHD. Non-significant
Wohl M, 2008 The TDT for 10-R allele shows a perfect lack of transmission bias Non-significant
Wang Y, 2007 findings do not support the hypothesis that SLC6A3 gene variants contribute to the pathogenesis of ADHD in Chinese Han population Non-significant
Brookes KJ, 2008(a) two marker haplotype P-value=0.00002; four marker haplotype GGGC P-value=1.8E-6; the most significant finding occurred between rs2550946 and rs40184; a four-marker haplotype displays significant over transmission to ADHD probands Significant
Franke B, 2008 Haplo.score global P-value=0.01 showed global evidence for association of SLC6A3 with adult ADHD; score test P-value=0.001 of 9-6 SLC6A3-haplotype which was significantly more frequent in cases than in controls Significant
Genro JP, 2008 haplotype A/C/C/C/A derived from five SNPs (rs2550948, rs11564750, rs261759, rs2652511, rs2975223) in 5' region, TDT P-value=0.018 after correction Significant
Niederhofer H, 2008 they did not observe an association of ADHD with SLC6A3 polymorphism neither by the haplotype relative risk (HRR) method nor by the transmission disequilibrium test (TdT) method. Non-significant
Oades RD, 2008 1 SNP showed significant association Significant

Gene related SNPs (count: 80)

Literature-origin SNPs (count: 50)

LD-proxies (count: 30)

Gene related CNVs (count: 0)

Gene related other variant (count: 16)

Gene related regions (count: 0)

Gene related GO terms (count: 39)

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

GO terms by database search (count: 39)

Gene related KEGG pathways (count: 1)

Genes shared at least 5 GO terms with SLC6A3 (count: 67)

Genes shared at least 2 KEGG pathways with SLC6A3 (count: 0)

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Region: chr5:1392905..1445545 View in gBrowse
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