Fig. 2

Association of nc886-3p blood RNA levels and epigenetic and genetic regulators using the YFS cohort. A Having the nc886 locus non-methylated in both alleles (white circle) or being a carrier of the minor allele (C allele) of rs1799962 is associated with elevated nc886-3p levels, when compared to imprinted major allele homozygotes (Ref.). In imprinted heterozygotes, the expression of nc886-3p shows a bimodal distribution, whereas the expression in other groups shows a unimodal distribution. The black and white circle represents imprinted individuals, while the grey and white is for intermediately methylated individuals. B and C A detailed analysis of individuals presenting an imprinted nc886 locus and a heterozygotic (T/C) rs1799962 genotype reveals that the presence of the minor allele does not have a major effect on the nc886-3p RNA levels when it has been inherited from the mother (located in the silenced maternal allele), while it associates with more than twofold upregulation in the RNA levels when the minor allele is inherited from the father (locates in the transcriptively active paternal allele). This supports the idea that the effect of rs1799962 on nc886-3p levels is cis-acting. The same reference group (ref.) is utilised in both figures A and B