Genetic impacts on DNA methylation: research findings and future perspectives

Genome Biology

Sergio Villicaña¹  Jordana T. Bell¹ 

[1] Department of Twin Research and Genetic Epidemiology, St. Thomas’ Hospital, King’s College London, 3rd Floor, South Wing, Block D, SE1 7EH, London, UK;

关键词: DNA methylation;    Heritability;    GWAS;    Methylation quantitative trait loci;    meQTL;   

DOI  :  10.1186/s13059-021-02347-6

来源: Springer

【 摘 要 】

Multiple recent studies highlight that genetic variants can have strong impacts on a significant proportion of the human DNA methylome. Methylation quantitative trait loci, or meQTLs, allow for the exploration of biological mechanisms that underlie complex human phenotypes, with potential insights for human disease onset and progression. In this review, we summarize recent milestones in characterizing the human genetic basis of DNA methylation variation over the last decade, including heritability findings and genome-wide identification of meQTLs. We also discuss challenges in this field and future areas of research geared to generate insights into molecular processes underlying human complex traits.

【 授权许可】

CC BY