Evidence map›Paper›PMID 21884617›Full record

ArticleBMC medical genetics2011

Association of COMT genotypes with S-COMT promoter methylation in growth-discordant monozygotic twins and healthy adults.

Felix Schreiner, Osman El-Maarri, Bettina Gohlke, Sonja Stutte, Nicole Nuesgen, Manuel Mattheisen, Rolf Fimmers, Peter Bartmann, Johannes Oldenburg, Joachim Woelfle

Open access · goldAbstract read
In one paragraph

Article in BMC medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
0.7field-weighted citation impact, top 32% of its field
1 · What the graph read from it

What it found

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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

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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

10 citing papers in PubMed, 15 citations in OpenAlex.

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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

10 authors at 3 institutions in 2 countries.

Felix SchreinerPediatric Endocrinology Division, Children's Hospital, University of Bonn, Adenauerallee 119, Bonn 53113, Germany.
Osman El-Maarri
Bettina Gohlke
Sonja Stutte
Nicole Nuesgen
Manuel Mattheisen
Rolf Fimmers
Peter Bartmann
Johannes Oldenburg
Joachim Woelfle
University of Bonn · DEBoston Children's Hospital · USInstitut für Medizinische Biometrie, Informatik und Epidemiologie · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCatechol-O-Methyltransferase (COMT) plays a key role in dopamine and estrogen metabolism. Recently, COMT haplotypes rather than the single polymorphism Val158Met have been reported to underlie differences in protein expression by modulating mRNA secondary structure. So far, studies investigating the epigenetic variability of the S-COMT (soluble COMT) promoter region mainly focused on phenotypical aspects, and results have been controversial.

methodsWe assessed S-COMT promoter methylation in saliva and blood derived DNA with regard to early pre- and postnatal growth as well as to genotype for polymorphisms rs6269, rs4633, and rs4680 (Val158Met) in 20 monozygotic twin pairs (mean age 4 years), who were discordant for intrauterine development due to severe feto-fetal-transfusion syndrome. Methylation levels of two previously reported partially methylated cytosines were determined by the quantitative SIRPH (SNuPE- IP RP HPLC) assay.

resultsOverall, we observed a high variability of S-COMT promoter methylation, which did not correlate with individual differences in the pre- or postnatal growth pattern. Within the twin pairs however we noted a distinct similarity that could be linked to underlying COMT genotypes. This association was subsequently confirmed in a cohort of 93 unrelated adult controls. Interestingly, 158Val-alleles were found at both ends of the epigenotypical range, which is in accordance with a recently proposed model of COMT haplotypes corresponding to a continuum of phenotypical variability.

conclusionThe strong heritable component of S-COMT promoter methylation found in our study needs to be considered in future approaches that focus on interactions between COMT epigenotype and phenotype.

Indexed as

DNA MethylationPromoter Regions, GeneticAdultAllelesCatechol O-MethyltransferaseChild, PreschoolCohort StudiesDiseases in TwinsFemaleFetofetal TransfusionGenotypeGestational AgeHaplotypesHumansMalePhenotypeCatechol O-Methyltransferase

Identifiers

PMID21884617
PMCPMC3270002
OpenAlexW2002289590

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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.