Aims & methods: The aim of this study was to characterize the methylation level of a polymorphically imprinted gene, VTRNA2-1/nc886, in human populations and somatic tissues.48 datasets, consisting of more than 30 tissues and >30,000 individuals, were used. Results:nc886 methylation status is associated with twin status and ethnic background, but the variation between populations is limited. Monozygotic twin pairs present concordant methylation, whereas ∼30% of dizygotic twin pairs present discordant methylation in the nc886 locus. The methylation levels of nc886 are uniform across somatic tissues, except in cerebellum and skeletal muscle. Conclusion: The nc886 imprint may be established in the oocyte, and, after implantation, the methylation status is stable, excluding a few specific tissues.
GrantsJuho Vainio Foundation Paivikki and Sakari Sohlberg Foundation Laboratoriolääketieteen edistämissäätiö sr Signe ja Ane Gyllenbergin Säätiö the Sigrid Juselius Foundation Pirkanmaa Regional Fund of Finnish Cultural Foundation Karolinska Institutet Strategic Research Program in Epidemiology