The Presence of Methylation Quantitative Trait Loci Indicates a Direct Genetic Influence on the Level of DNA Methylation in Adipose Tissue
作者： Alexander W Drong , George Nicholson , Åsa K Hedman , Eshwar Meduri , Elin Grundberg
DOI: 10.1371/JOURNAL.PONE.0055923
关键词: Epigenetics 、 Quantitative trait locus 、 Expression quantitative trait loci 、 Molecular biology 、 Genetics 、 Methylation 、 Illumina Methylation Assay 、 CpG site 、 Biology 、 Genome-wide association study 、 DNA methylation 、 General Biochemistry, Genetics and Molecular Biology 、 General Agricultural and Biological Sciences 、 General Medicine
摘要: Genetic variants that associate with DNA methylation at CpG sites (methylation quantitative trait loci, meQTLs) offer a potential biological mechanism of action for disease associated SNPs. We investigated whether meQTLs exist in abdominal subcutaneous adipose tissue (SAT) and if associates metabolic syndrome (MetSyn) phenotypes. profiled 27,718 genomic regions SAT samples 38 unrelated individuals using differential hybridization (DMH) together genotypes 5,227,243 SNPs expression 17,209 mRNA transcripts. Validation replication significant was pursued an independent cohort 181 female twins. find that, 5% false discovery rate, levels 149 DMH least one SNP ±500 kilobase cis-region our primary study. sought to validate 19 these the study five significantly corresponding meQTL from none top is locus data, but we observed association between two transcripts cis-methylation status. Our results indicate partly under genetic control. This provides starting point future investigations tissue.
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