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

作者: Alicia K Smith , Varun Kilaru , Mehmet Kocak , Lynn M Almli , Kristina B Mercer

DOI: 10.1186/1471-2164-15-145

关键词: Genome-wide association studyPopulationBiologySNPNonsynonymous substitutionQuantitative trait locusSingle-nucleotide polymorphismCpG siteDNA methylationGenetics

摘要: Individual genotypes at specific loci can result in different patterns of DNA methylation. These methylation quantitative trait (meQTLs) influence across extended genomic regions and may underlie direct SNP associations or gene-environment interactions. We hypothesized that the detection meQTLs varies with ancestral population, developmental stage, tissue type. explored this by analyzing seven datasets varied ancestry (African American vs. Caucasian), stage (neonate adult), type (blood four postmortem brain) genome-wide data. tested for constructing linear regression models levels each CpG site on within 50 kb under an additive model controlling multiple tests. Most mapped to intronic regions, although a limited number appeared occur synonymous nonsynonymous coding SNPs. saw significant overlap between groups, stages, types, highest rates brain regions. Compared random group SNPs comparable frequencies, were more likely be 1) represented among most associated WTCCC bipolar disorder results 2) located microRNA binding sites. data give us insight into how impact gene regulation support notion peripheral blood reliable correlate physiological processes other tissues.

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