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

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dc.contributor.author El Maarri, Osman
dc.contributor.author Schreiner, Felix
dc.contributor.author Gohlke, Bettina
dc.contributor.author Stutte, Sonja
dc.contributor.author Nuesgen, Nicole
dc.contributor.author Mattheisen, Manuel
dc.contributor.author Fimmers, Rolf
dc.contributor.author Bartmann, Peter
dc.contributor.author Oldenburg, Johannes
dc.contributor.author Waoelfle, Joachim
dc.date.accessioned 2017-09-14T09:18:09Z
dc.date.available 2017-09-14T09:18:09Z
dc.date.copyright 2011 en_US
dc.date.issued 2017-09-14
dc.identifier.issn 1471-2350 en_US
dc.identifier.uri http://hdl.handle.net/10725/6187
dc.description.abstract Background Catechol-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. Methods We 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. Results Overall, 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. Conclusion The 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. en_US
dc.language.iso en en_US
dc.title Association of COMT genotypes with S-COMT promoter methylation in growth-discordant monozygotic twins and healthy adults en_US
dc.type Article en_US
dc.description.version Published en_US
dc.author.school SAS en_US
dc.author.idnumber 201508713 en_US
dc.author.department Natural Sciences en_US
dc.description.embargo N/A en_US
dc.relation.journal BMC Medical Genetics en_US
dc.journal.volume 12 en_US
dc.journal.issue 1 en_US
dc.article.pages 115 en_US
dc.identifier.doi https://doi.org/10.1186/1471-2350-12-115 en_US
dc.identifier.ctation Schreiner, F., El-Maarri, O., Gohlke, B., Stutte, S., Nuesgen, N., Mattheisen, M., ... & Woelfle, J. (2011). Association of COMT genotypes with S-COMT promoter methylation in growth-discordant monozygotic twins and healthy adults. BMC medical genetics, 12(1), 115. en_US
dc.author.email osman.elmaarri@lau.edu.lb en_US
dc.identifier.tou http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php en_US
dc.identifier.url https://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-12-115 en_US
dc.author.affiliation Lebanese American University en_US

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