Genome-wide identification of DNA methylation QTLs in whole blood highlights pathways for cardiovascular disease

T Huan, R Joehanes, CI Song, F Peng, Y Guo… - Nature …, 2019 - nature.com
Identifying methylation quantitative trait loci (meQTLs) and integrating them with disease-
associated variants from genome-wide association studies (GWAS) may illuminate …

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 …

Co-occurring expression and methylation QTLs allow detection of common causal variants and shared biological mechanisms

BL Pierce, L Tong, M Argos, K Demanelis… - Nature …, 2018 - nature.com
Inherited genetic variation affects local gene expression and DNA methylation in humans.
Most expression quantitative trait loci (cis-eQTLs) occur at the same genomic location as a …

SNPs located at CpG sites modulate genome-epigenome interaction

D Zhi, S Aslibekyan, MR Irvin, SA Claas, IB Borecki… - Epigenetics, 2013 - Taylor & Francis
DNA methylation is an important molecular-level phenotype that links genotypes and
complex disease traits. Previous studies have found local correlation between genetic …

Systemic interindividual epigenetic variation in humans is associated with transposable elements and under strong genetic control

CJ Gunasekara, H MacKay, CA Scott, S Li, E Laritsky… - Genome biology, 2023 - Springer
Background Genetic variants can modulate phenotypic outcomes via epigenetic
intermediates, for example at methylation quantitative trait loci (mQTL). We present the first …

DNA methylation modules associate with incident cardiovascular disease and cumulative risk factor exposure

K Westerman, P Sebastiani, P Jacques, S Liu… - Clinical …, 2019 - Springer
Background Epigenome-wide association studies using DNA methylation have the potential
to uncover novel biomarkers and mechanisms of cardiovascular disease (CVD) risk …

A genome-wide mQTL analysis in human adipose tissue identifies genetic variants associated with DNA methylation, gene expression and metabolic traits

P Volkov, AH Olsson, L Gillberg, SW Jørgensen… - PloS one, 2016 - journals.plos.org
Little is known about the extent to which interactions between genetics and epigenetics may
affect the risk of complex metabolic diseases and/or their intermediary phenotypes. We …

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 …

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 …

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 …