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. 2020 Feb 28;11:60. doi: 10.3389/fgene.2020.00060

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Copyright © 2020 Yu, Qiu, Xu, Tian, Zhao, Wu, Deng and Shen

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Four possible models for an observed association between a trait and genetic variants through DNA methylation. (A) The genetic variant has an effect on the phenotype, mediated through DNA methylation. (B) The genetic variant that influences DNA methylation and the variant that influences the associated trait are in LD with each other. (C) The genetic variant influences both DNA methylation and phenotype by two independent biological pathways. (D) The genetic variant has an effect on the phenotype which then has a downstream effect on DNA methylation at this locus.