rs10012307 - TERF1P3 - LINC02511

Magnitude 2.0 · 1 study on file

Reported associations

• GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. - Twin research and human genetics : the official journal of the International Society for Twin Studies (2013) · Rentería ME, Coolen MW, Statham AL, Choi RS, Qu W, Campbell MJ, Smith S, Henders AK, Montgomery GW, Clark SJ, Martin NG, Medland SE · PubMed 23725790

  Imprinting control regions (ICRs) play a fundamental role in establishing and maintaining the non-random monoallelic expression of certain genes, via common regulatory elements such as non-coding RNAs and differentially methylated regions (DMRs) of DNA. We recently surveyed DNA methylation levels within four ICRs (H19-ICR, IGF2-DMR, KvDMR, and NESPAS-ICR) in whole-blood genomic DNA from 128 monozygotic (MZ) and 128 dizygotic (DZ) human twin pairs. Our analyses revealed high individual variation and intra-domain covariation in methylation levels across CpGs and emphasized the interaction between epigenetic variation and the underlying genetic sequence in a parent-of-origin fashion. Here, we extend our analysis to conduct two genome-wide screenings of single nucleotide polymorphisms (SNPs) u

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.