Evidence map›Paper›PMID 18574484›Full record

ArticleMolecular psychiatry2010

The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase.

N Mukherjee, K K Kidd, A J Pakstis, W C Speed, H Li, Z Tarnok, C Barta, S L B Kajuna, J R Kidd

Open access · greenAbstract read
In one paragraph

Article in Molecular psychiatry, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 1 pooled it
4.3field-weighted citation impact, top 5% 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

20 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.

  1. Pooled it
  2. The functional Val158Met polymorphism of COMT predicts interindividual differences in brain alpha oscillations in young men.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2009
    Trial
  3. Article
  4. Polymorphisms inGenes · 2022
    Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Schooling and variation in the COMT gene: the devil is in the details.Journal of child psychology and psychiatry, and allied disciplines · 2013
    Article
  11. Review
  12. Review
  13. Article
  14. Review
  15. Prefrontal-related functional connectivities within the default network are modulated by COMT val158met in healthy young adults.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2010
    Article
  16. 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 3 countries.

N MukherjeeDepartment of Genetics, Yale University School of Medicine, New Haven, CT 06520-8005, USA.
K K Kidd
A J Pakstis
W C Speed
H Li
Z Tarnok
C Barta
S L B Kajuna
J R Kidd
Yale University · USHubert Kairuki Memorial University · TZSemmelweis University · HUVadaskert Alapítvány a Gyermekek Lelki Egészségéért · HU

Funding

Theoretical Studies of Linkage DisequilibriumP01GM057672 · NIGMS · YALE UNIVERSITY · PI KIDD, JUDITH R · 1998 to 2008
$11.0M
CONTROLS FOR ASSOCIATION STUDIES OF ALCOHOLISMR01AA009379 · NIAAA · YALE UNIVERSITY · PI KIDD, KENNETH K. · 1992 to 2009
$2.7M
NIAAA NIH HHS AA009379NIAAA NIH HHS R01 AA009379NIGMS NIH HHS GM057672NIGMS NIH HHS P01 GM057672
6 · The paper itself

Abstract

Genetic variation at the catechol-O-methyltransferase (COMT) gene has been significantly associated with risk for various neuropsychiatric conditions such as schizophrenia, panic disorder, bipolar disorders, anorexia nervosa and others. It has also been associated with nicotine dependence, sensitivity to pain and cognitive dysfunctions especially in schizophrenia. The non-synonymous single nucleotide polymorphism (SNP) in exon 4--Val108/158Met--is the most studied SNP at COMT and is the basis for most associations. It is not, however, the only variation in the gene; several haplotypes exist across the gene. Some studies indicate that the haplotypic combinations of alleles at the Val108/158Met SNP with those in the promoter region and in the 3'-untranslated region are responsible for the associations with disorders and not the non-synonymous SNP by itself. We have now studied DNA samples from 45 populations for 63 SNPs in a region of 172 kb across the region of 22q11.2 encompassing the COMT gene. We focused on 28 SNPs spanning the COMT-coding region and immediately flanking DNA, and found that the haplotypes are from diverse evolutionary lineages that could harbor as yet undetected variants with functional consequences. Future association studies should be based on SNPs that define the common haplotypes in the population(s) being studied.

Indexed as

Genetic Predisposition to DiseaseLinkage DisequilibriumAnimalsCatechol O-MethyltransferaseDatabases, GeneticGene FrequencyGenotypeHumansPolymorphism, Single NucleotidePopulation GroupsCatechol O-Methyltransferase

Identifiers

PMID18574484
PMCPMC2811226
OpenAlexW2140703131

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

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.