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

Gene Report

Basic Info
Approved Symbol DRD4
Approved Name dopamine receptor D4
Location 11p15.5
Position chr11:637293-640706, 1
External Links HGNC: 3025
Entrez Gene: 1815
Ensembl: ENSG00000069696
UCSC: uc001lqp.2
No. of Studies 67 (significant: 49; non-significant: 18; trend: 0)
Source Literature-origin; Mapped by Literature SNP

Gene related studies (count: 67)
Reference Statistical Values/Author Comments Result of Statistical Analysis
Arcos-Burgos M, 2004 (b) PDT smallest P=0.0467 for haplotype 240bp/7R, the haplotype analysis shows a significant association/linkage of the 7R-240 bp haplotype with ADHD. Significant
Barr CL, 2000 (b) TDT of DRD4 haplotypes: smallest P=0.02; the current study of additional polymorphisms and haplotypes at the DRD4 locus further suggests that it is a susceptibility factor in ADHD. Significant
Barr CL, 2001(d) allele-wise TDT P-value>0.059, the result was not significant for any of the haplotypes of the 5' polymorphisms; the overall allele-wise TDT X2 and genotype-wise TDT X2 for the haplotypes of the 5' polymorphisms were not significant. Allele-wise TDT X2=3.903, d.f.=1, P-value=0.048 for haplotype composed of 2 repeats of the 120 bp polymorphism, allele 2 (T) of the FspI polymorphism, allele 1 (C) of the AvaII polymorphism and the 7-repeat allele of exon III (2-2-1-7) showed significant evidence for biased transmission; The overall genotype-wise TDT X2 for the haplotypes of the 5' polymorphisms and the exon III polymorphism was significant (TDT X2=68.282, 43 d.f., P=0.009) but the overall allele-wise TDT X2 was not Significant
Bhaduri N, 2006 (a) haplotype 1-1-1 of the 5' flanking 120-bp duplication, exon 1 12-bp duplication, and exon 3 48-bp VNTR, haplotype frequencies P-value=0.0009, X2 (1df)=10.93 in cases, P-value=0.0091, X2 (1df)=6.8 in controls Significant
Nikolaidis A, 2010 the Caucasian group showed a positive relationship between ADHD and the DRD4 7R allele; the Middle Eastern group showed a negative relationship between ADHD and the DRD4 7R allele; The South American group also demonstrated a positive relationship between ADHD and the DRD4 7R allele; The Asian group demonstrated a positive relationship between the DRD4 2R allele and ADHD, but the results were insignificant Significant
Oades RD, 2008 1 SNP and 1 polymorphism showed significant association Significant
Mill J, 2003 haplotype (2-C-C-142-4) P-value=0.04, X2=4.073, 1 df, showed marginal evidence for biased transmission to ADHD probands; of which haplotype (2-C-C) P-value=0.03, X2=4.68, 1 df, was over-transmitted to affected ADHD probands Significant
Muglia P, 2000 The results of this study suggest a role of the 7-repeat allele of DRD4 in adult subjects suffering from ADHD. Significant
McCracken JT, 2000 TDT of haplotype: P=0.04 for 120/-7; P=0.196 for 120/+7; P=0.297 for 240/-7; P=0.165 for 240/+7. Results in this study suggest that the 240-bp (long) allele of the 120-bp repeat polymorphism in the 5' untranslated region of DRD4 is preferentially transmitted from parents to their ADHD offspring. Significant
Mill J, 2001 there was evidence of association between 7 repeat allele of a 48 base-pair repeat in the dopamine D4 receptor gene in the case-control sample, but no evidence of linkage in the family-based UK sample Significant
Maher BS, 2002 for DRD4, positive association was demostrated with ADHD in the meta-analysis and there was no support for hetergeneity between studies Significant
Manor I, 2002 (a) preferential transmission of the short allele of DRD4 exon 3 VNTR was observed Significant
Li D, 2006 DRD4 4-repeat, 5-repeat, 7-repeat showed significant associations, there is a statistically significant association between ADHD and DRD4 Significant
Lowe N, 2004 (a) significant over transmission of SNP in DRD4 was observed. Significant
Lasky-Su J, 2007 One of the four SNPswas associatedwith the quantitative phenotypes generated fromthe ADHDsymptoms. Significant
Leung PW, 2005 chi-square analysis confirmed a significant increase in the frequency of the 2R allele of DRD4 in the Han Chinese ADHD probands compared to ethnically-matched controls from the five Han Chinese communities Significant
Kustanovich V, 2004 The DRD4 gene 120-bp insertion/deletion promoter polymorphism displayed a significant bias in transmission of the insertion. The seven repeat allele of the DRD4 48-bp repeat polymorphism was not significantly associated with ADHD. Significant
Langley K, 2009 significant association between the DRD4 48 bp VNTR 7-repeat allele and 'persistent ADHD'. Significant
Kereszturi E, 2007 haplotype frequency analysis: P-value=0.093 (df=9) under an unequal distribution; P-value=0.002 (OR=2.33) for 1-C-A-T haplotype. The 1-repeat form of the 120-bp dup in this gene was significantly higher in the ADHD group compared to controls. The 1-C-A-T haplotype was overrepresented in the cases. Significant
Kotler M, 2000 there was a significant excess of the long DRD4 repeat alleles in the HRR control group. Significant
Johnson KA, 2008 a significant association between possession of the 7-repeat allele and diagnosis Significant
Ilott NE, 2010 1 SNP showed modest, nominally significant association in the AT and AW tests at age 3 Significant
Holmes J, 2002 evidence of linkage and association between DRD4 and ADHD was found in this study Significant
Holmes J, 2000 A significant increase in the DRD4 7 repeat allele amongst ADHD probands and their parents was observed, compared to ethnically matched controls. However TDT analysis showed no preferential transmission of allele 7 to ADHD probands. 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=0.0011, X2=10.6 when DRD4 was removed in sensitivity analysis Significant
Gornick MC, 2007 The DRD4 7-repeat allele was significantly more frequent in ADHD cases than controls. Significant
Gizer IR, 2009 The present study provides significant evidence suggesting an association between childhood ADHD and this gene. Significant
Faraone SV, 2001 both the case-control and family-based studies supported for the association between ADHD and DRD4 Significant
Faraone SV, 1999 The results suggest that there may be an association between ADHD and the 7-repeat allele of the dopamine D4 gene in this sample Significant
Das M, 2011 minimum UNPHASED P-value=0.29 for haplotype frequencies in the case-control analysis showed no significant difference; minimum ETDT P-value=0.02, X2(1df)=5.54, RR=5.18e+008, which showed significant over transmission of the 7R-T haplotypes from parents Significant
Comings DE, 1999 48bp repeat polymorphism is significantly associated with ADHD Significant
Cheuk DK, 2006(a) 4/4 repeat genotype chi-square P-value=0.26, OR=1.52; 2/4 repeat genotype chi-square P-value=0.15, OR=0.55; the longer repeat genotypes chi-square P-value=0.01; P-value=0.013 in the male subgroup; P-value=0.005 in the inattentive subtype; a significant trend between the longer repeat alleles and ADHD Significant
Carrasco X, 2006 DRD4 7-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
Brookes KJ, 2008(c) DRD4 7-repeat allele is associated with ADHD Significant
Brookes K, 2006 UNPHASED TDT P-value=0.055, global P-value=0.182, WHAP TDT P_sum P-value=0.132; OR=1.7, one or more SNPs with nominal P-value<0.05 located in this gene Significant
Bidwell LC, 2011 In the current study, the DRD4 VNTR 4-repeat allele was associated with increased ADHD symptomatology. Significant
Brookes KJ, 2005 (a) two-marker haplotype, TDT P-value=0.45; HHRR P-value=0.45; did not find either global or haplotype-specific evidence for association Non-significant
Carpentier, P. J., 2012 No significant association was found. Non-significant
Bakker SC, 2005 haplotype DRD4, TDT P-value=0.65; DRD4 did not contribute substantially to ADHD in the Dutch population Non-significant
Bobb AJ, 2005 no polymorphism was associated with ADHD Non-significant
Kirley A, 2004 there was no association between the investigated variants and ADHD Non-significant
Yang JW, 2008 there was a significant association between the -521 C/T SNP and ADHD in Korean boys Significant
Kirley A, 2002 No preferential transmission of alleles to ADHD children was observed Non-significant
Kim YS, 2005 did not show preferential transmission of any allele or gene-gene interaction Non-significant
Johansson S, 2008 no association between ADHD and the DRD4 polymorphism Non-significant
Tahir E, 2000 (b) increased transmission of the DRD4 7-repeat allele was found Significant
Hawi Z, 2000 (a) no significant differences in the frequency of the DRD4 alleles transmitted or not transmitted to ADHD cases from their parents nor when comparing case allele frequencies to ethnically matched controls. Non-significant
Swanson JM, 1998 The HRR contingency statistic of allele 7 repeat was significant. This provides additional evidence that the DRD4 gene is associated with a refined phenotype of ADHD. Significant
Gabriela ML, 2009 genotype analysis P-value=0.19; allelic analysis P-value=0.18 | TDT P-value=0.59. No significant differences between groups of comparison. Non-significant
Tovo-Rodrigues L, 2011 Findings in this study suggest an association between ADHD and DRD4 rare variants. Significant
Eisenberg J, 2000 Current study failed to observe preferential transmission of the DRD4 exon III long 7 repeat allele (P<0.1). Nor was any preferential transmission observed when genotypes were compared (P>0.1) Non-significant
Todd RD, 2001(b) combined haplotype of 5' 120bp RP and exon3 48bp RP, ETDT P-value>0.08 in DSM-IV subtype; haplotype (1-7) ETDT P-value=0.04, corrected P-value=0.25 in DSM-IV any ADHD; there was suggestive evidence for biased transmission Significant
Castellanos FX, 1998 There were no significant differences between cases and controls in the frequency of any allele and genotype Non-significant
Smalley SL, 1998 In this study, they found evidence that the 7-repeat allele of DRD4 VNTR in exon 3 is transmitted to affected offspring more than non-7 repeat alleles suggesting that the 7-repeat allele is a susceptibility gene in ADHD. Significant
Sanchez-Mora C, 2011 chi-square test P-value>0.05 for haplotype frequencies, showed no association in any of the four separate cohorts; meta-analysis: P-value=0.01, OR=0.78 showed an under representation of the S-4R allelic combination in the ADHD sample; P-value=0.04, OR=0.73 in females; S-4R P-value=0.01, OR=0.75; L-4R P-value=0.02, OR=1.29, showed an increased frequency of carriers of the L-4R risk haplotype in addition to an under-representation of the S-4R allelic combination in this clinical dataset. 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
Sunohara GA, 2000 The results of this study further support the possibility of a role of the dopamine D4 receptor locus in ADHD Significant
Todd RD, 2005 no significant associations were found for DRD4 polymorphisms using DSM-IV ADHD subtypes Non-significant
Smith TF, 2010 consistent with previous meta-analytic work, the DRD4 7R allele was associated with AD/HD across studies. Combined type individuals within the AD/HD sample was associated with a significant increase in the magnitude of association between the DRD4 7R allele and AD/HD. 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
Qian Q, 2007 Logistic Regression Analysis: P-value=0.039, OR=2.805, 95%CI=1.056-7.452. Result show that the effects of the risk alleles of DRD4 found in the univariate analyses remained significant after partialing out the effects of the other putative risk alleles. Significant
Smith KM, 2003 no polymorphism was significantly associated with ADHD Non-significant
Qian Q, 2004 no evidence for association for either the entire sample or for DSM-IV subtypes of ADHD, but stratification by gender yielded intriguing results. Long repeat alleles were associated with ADHD in males but short repeats were associated with ADHD in females. Significant
Payton A, 2001 there was no evidence of preferential transmission of any marker allele for the polymorphism examined in this study Non-significant
Rowe DC, 1998 Findings in this study were most positive for the questionnaire-based diagnosis of ADHD-inattentive type. Significant
Nyman ES, 2007 No evidence of association was seen. Non-significant
Roman T, 2001 an excess of the 7-repeat allele was observed when both ADHD probands and their parents were compared with an ethnically matched control sample, no main effects of DRD4 and ADHD by using dimensional Analyses Significant
Niederhofer H, 2008 they did not observe an association of ADHD with DRD4 polymorphism neither by the haplotype relative risk (HRR) method nor by the transmission disequilibrium test (TdT) method. Non-significant

Gene related SNPs (count: 8)

Literature-origin SNPs (count: 8)

LD-proxies (count: 0)


Gene related CNVs (count: 0)

Gene related other variant (count: 9)

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: 1)

Genes shared at least 5 GO terms with DRD4 (count: 18)

Genes shared at least 2 KEGG pathways with DRD4 (count: 0)

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Region: chr11:637293..640706 View in gBrowse
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