RGD Reference Report - DRD4 gene variants and sustained attention in attention deficit hyperactivity disorder (ADHD): effects of associated alleles at the VNTR and -521 SNP. - Rat Genome Database

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DRD4 gene variants and sustained attention in attention deficit hyperactivity disorder (ADHD): effects of associated alleles at the VNTR and -521 SNP.

Authors: Bellgrove, Mark A  Hawi, Ziarih  Lowe, Naomi  Kirley, Aiveen  Robertson, Ian H  Gill, Michael 
Citation: Bellgrove MA, etal., Am J Med Genet B Neuropsychiatr Genet. 2005 Jul 5;136B(1):81-6.
RGD ID: 13210511
Pubmed: PMID:15909295   (View Abstract at PubMed)
DOI: DOI:10.1002/ajmg.b.30193   (Journal Full-text)

Associations between attention deficit hyperactivity disorder (ADHD) and genetic variants within the dopamine D4 receptor gene have been much reported. Variants investigated include the 7-repeat allele of a VNTR within the third exon, and two SNPs (-521 and -616) located with the promoter region. We investigated the relationship between the VNTR, -521, and -616 SNPs and sustained attention performance in 54 ADHD probands, relative to a non-genotyped control group. Participants performed the Sustained Attention to Response Task (SART) in which the response to an unpredictably occurring target digit must be inhibited. This task, therefore, challenged sustained attention and included a response inhibition component. Consistent with previous reports, ADHD participants possessing the 7-repeat allele of the VNTR outperformed those children not possessing this allele, both in terms of errors and response variability. In family based analyses, better performance on the SART tended to predict biased transmission of the 7-repeat allele from heterozygous parents. For the -521 SNP, A allele homozygotes showed greater impairment than heterozygotes or those not possessing this allele, both in terms of total errors and response variability. Family based analysis showed that higher total errors on the SART predicted transmission of the A allele from heterozygous parents. There were no effects of the -616 SNP. Our results suggest dissociable effects of the "associated alleles" of DRD4 gene variants on sustained attention: while the 7-repeat allele of the VNTR is associated with relatively better performance, the A allele of the -521 SNP is associated with poorer performance.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
attention deficit hyperactivity disorder severityIAGP 13210511DNA:snp:promoter:g.-521G>A (human)RGD 
attention deficit hyperactivity disorder severityISODRD4 (Homo sapiens)13210511; 13210511DNA:snp:promoter:g.-521G>A (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Anxiety severityIAGP 13210511DNA:snp:promoter:g.-521G>ARGD 
Cognitive impairment severityIAGP 13210511DNA:snp:promoter:g.-521G>ARGD 
Hyperactivity severityIAGP 13210511DNA:snp:promoter:g.-521G>ARGD 
Oppositional defiant disorder severityIAGP 13210511DNA:snp:promoter:g.-521G>ARGD 
Objects Annotated

Genes (Rattus norvegicus)
Drd4  (dopamine receptor D4)

Genes (Mus musculus)
Drd4  (dopamine receptor D4)

Genes (Homo sapiens)
DRD4  (dopamine receptor D4)


Additional Information