Genetic impacts on DNA methylation: research findings and future perspectives

S Villicaña, JT Bell - Genome biology, 2021 - Springer
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 …

Systematic identification of genetic influences on methylation across the human life course

TR Gaunt, HA Shihab, G Hemani, JL Min, G Woodward… - Genome biology, 2016 - Springer
Background The influence of genetic variation on complex diseases is potentially mediated
through a range of highly dynamic epigenetic processes exhibiting temporal variation during …

Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome

WA Cheung, X Shao, A Morin, V Siroux, T Kwan, B Ge… - Genome biology, 2017 - Springer
Background The functional impact of genetic variation has been extensively surveyed,
revealing that genetic changes correlated to phenotypes lie mostly in non-coding genomic …

Methylation QTLs are associated with coordinated changes in transcription factor binding, histone modifications, and gene expression levels

NE Banovich, X Lan, G McVicker, B Van de Geijn… - PLoS …, 2014 - journals.plos.org
DNA methylation is an important epigenetic regulator of gene expression. Recent studies
have revealed widespread associations between genetic variation and methylation levels …

DNA methylation QTL mapping across diverse human tissues provides molecular links between genetic variation and complex traits

M Oliva, K Demanelis, Y Lu, M Chernoff, F Jasmine… - Nature …, 2023 - nature.com
Studies of DNA methylation (DNAm) in solid human tissues are relatively scarce; tissue-
specific characterization of DNAm is needed to understand its role in gene regulation and its …

Leveraging DNA-methylation quantitative-trait loci to characterize the relationship between methylomic variation, gene expression, and complex traits

E Hannon, TJ Gorrie-Stone, MC Smart… - The American Journal of …, 2018 - cell.com
Characterizing the complex relationship between genetic, epigenetic, and transcriptomic
variation has the potential to increase understanding about the mechanisms underpinning …

Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function

JS Hawe, R Wilson, KT Schmid, L Zhou… - Nature …, 2022 - nature.com
We determined the relationships between DNA sequence variation and DNA methylation
using blood samples from 3,799 Europeans and 3,195 South Asians. We identify …

DNA methylation-based variation between human populations

F Kader, M Ghai - Molecular genetics and genomics, 2017 - Springer
Several studies have proved that DNA methylation affects regulation of gene expression and
development. Epigenome-wide studies have reported variation in methylation patterns …

High density methylation QTL analysis in human blood via next-generation sequencing of the methylated genomic DNA fraction

JL McClay, AA Shabalin, MG Dozmorov, DE Adkins… - Genome biology, 2015 - Springer
Background Genetic influence on DNA methylation is potentially an important mechanism
affecting individual differences in humans. We use next-generation sequencing to assay …

Methylation quantitative trait loci (meQTLs) are consistently detected across ancestry, developmental stage, and tissue type

AK Smith, V Kilaru, M Kocak, LM Almli, KB Mercer… - BMC genomics, 2014 - Springer
Background Individual genotypes at specific loci can result in different patterns of DNA
methylation. These methylation quantitative trait loci (meQTLs) influence methylation across …