Evidence map›Paper›PMID 12660802›Full record

ArticleMolecular psychiatry2003

Linkage disequilibrium mapping at DAT1, DRD5 and DBH narrows the search for ADHD susceptibility alleles at these loci.

Z Hawi, N Lowe, A Kirley, F Gruenhage, M Nöthen, T Greenwood, J Kelsoe, M Fitzgerald, M Gill

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Article in Molecular psychiatry, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 2 pooled it
8.1field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 123 citations in OpenAlex.

  1. Pooled it
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  4. Trial
  5. Article
  6. Article
  7. Article
  8. Article
  9. Association of dopamine transporter gene variants with childhood ADHD features in bipolar disorder.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2013
    Article
  10. Epistasis between neurochemical gene polymorphisms and risk for ADHD.European journal of human genetics : EJHG · 2011
    Article
  11. Article
  12. Molecular genetics of attention deficit hyperactivity disorder.The Psychiatric clinics of North America · 2010
    Review
  13. Article
  14. Article
  15. Article
  16. Genetic aspects in attention-deficit/hyperactivity disorder.Journal of neural transmission (Vienna, Austria : 1996) · 2008
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 4 institutions in 4 countries.

Z HawiDepartment of Genetics and Psychiatry, Trinity College, Dublin, Ireland. zhhawi@tcd.ie
N Lowe
A Kirley
F Gruenhage
M Nöthen
T Greenwood
J Kelsoe
M Fitzgerald
M Gill
Trinity College Dublin · IEUniversity of California, San Diego · USUniversity of Antwerp · BEUniversity of Bonn · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Abnormalities in dopaminergic neurotransmission are now accepted as factors in predisposing to ADHD. Evidence of associations between dopamine transporter gene polymorphism and ADHD was first reported by Cook et al. We confirmed the DAT1 association and also identified two additional susceptibility loci at the DRD5 and DBH. Notably, none of the associated variants at these three genes are known to be expressed. Other variants within or closely mapped to the associated alleles are likely to be relevant. In this investigation, we analyse additional markers creating a high-density map across and flanking these genes, and measure intermarker linkage disequilibrium (LD). None of the newly examined markers were more strongly associated with ADHD. At DAT1, the pattern of intermarker LD and haplotype association with the phenotype between exon 9 and the 3' of the gene suggests that the functional variant at DAT1 may be located to this region. For DRD5, three markers, covering a region of approximately 68 kb including the single DRD5 exon are all associated with disease, and thus do not provide localizing information. However, the data for DBH point to a region close to the centre of the gene. Correlation between D' and physical distance was observed between markers at DAT1 and DRD5 for distances less than 50 kb. This was not the case for DBH, where LD breakdown was observed between the intron 5 and intron 9 polymorphisms although they are only 9 kb apart. Further genetic analysis is unlikely to refine the location of susceptibility variants and functional assessment of variants within associated regions is required.

Indexed as

Linkage DisequilibriumMembrane GlycoproteinsNerve Tissue ProteinsAdolescentAllelesAttention Deficit Disorder with HyperactivityChildChild, PreschoolDopamine beta-HydroxylaseDopamine Plasma Membrane Transport ProteinsGenetic MarkersGenetic Predisposition to DiseaseHaplotypesHumansMembrane Transport ProteinsReceptors, Dopamine D1Dopamine beta-HydroxylaseDopamine Plasma Membrane Transport ProteinsDRD5 protein, humanGenetic MarkersMembrane GlycoproteinsMembrane Transport ProteinsNerve Tissue ProteinsReceptors, Dopamine D1Receptors, Dopamine D5SLC6A3 protein, human

Identifiers

PMID12660802
OpenAlexW2060021324

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.