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 …

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 …

Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain

JR Gibbs, MP Van Der Brug, DG Hernandez… - PLoS …, 2010 - journals.plos.org
A fundamental challenge in the post-genome era is to understand and annotate the
consequences of genetic variation, particularly within the context of human tissues. We …

meQTL mapping in the GENOA study reveals genetic determinants of DNA methylation in African Americans

L Shang, W Zhao, YZ Wang, Z Li, JJ Choi… - Nature …, 2023 - nature.com
Identifying genetic variants that are associated with variation in DNA methylation, an
analysis commonly referred to as methylation quantitative trait locus (meQTL) mapping, is an …

Functional annotation of the human brain methylome identifies tissue-specific epigenetic variation across brain and blood

MN Davies, M Volta, R Pidsley, K Lunnon, A Dixit… - Genome biology, 2012 - Springer
Background Dynamic changes to the epigenome play a critical role in establishing and
maintaining cellular phenotype during differentiation, but little is known about the normal …

[HTML][HTML] 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 …

[PDF][PDF] Pleiotropic effects of trait-associated genetic variation on DNA methylation: utility for refining GWAS loci

E Hannon, M Weedon, N Bray, M O'Donovan… - The American Journal of …, 2017 - cell.com
Most genetic variants identified in genome-wide association studies (GWASs) of complex
traits are thought to act by affecting gene regulation rather than directly altering the protein …

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 …

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 …

Identification of 55,000 replicated DNA methylation QTL

AF McRae, RE Marioni, S Shah, J Yang, JE Powell… - Scientific reports, 2018 - nature.com
DNA methylation plays an important role in the regulation of transcription. Genetic control of
DNA methylation is a potential candidate for explaining the many identified SNP …