title: Discordance of DNA methylation variance between two accessible human tissues.
abstract: Population epigenetic studies have been seeking to identify differences in DNA methylation between specific exposures, demographic factors, or diseases in accessible tissues, but relatively little is known about how inter-individual variability differs between these tissues. This study presents an analysis of DNA methylation differences between matched peripheral blood mononuclear cells (PMBCs) and buccal epithelial cells (BECs), the two most accessible tissues for population studies, in 998 promoter-located CpG sites. Specifically we compared probe-wise DNA methylation variance, and how this variance related to demographic factors across the two tissues. PBMCs had overall higher DNA methylation than BECs, and the two tissues tended to differ most at genomic regions of low CpG density. Furthermore, although both tissues showed appreciable probe-wise variability, the specific regions and magnitude of variability differed strongly between tissues. Lastly, through exploratory association analysis, we found indication of differential association of BEC and PBMC with demographic variables. The work presented here offers insight into variability of DNA methylation between individuals and across tissues and helps guide decisions on the suitability of buccal epithelial or peripheral mononuclear cells for the biological questions explored by epigenetic studies in human populations.
authors: Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada.
authors: Ruiwei
authors: R
authors: Jiang
authors: Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada.
authors: Meaghan J
authors: MJ
authors: Jones
authors: Department of Psychology and Institute for Policy Research, Northwestern University, Evanston, IL 60208, United States.
authors: Edith
authors: E
authors: Chen
authors: Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada.
authors: Sarah M
authors: SM
authors: Neumann
authors: Department of Biology, Stanford University, Stanford, CA 94305, United States.
authors: Hunter B
authors: HB
authors: Fraser
authors: Department of Psychology and Institute for Policy Research, Northwestern University, Evanston, IL 60208, United States.
authors: Gregory E
authors: GE
authors: Miller
authors: 1] Centre for Molecular Medicine and Therapeutics, Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada [2] Human Early Learning Partnership, School of Population and Public Health, University of British Columbia, Vancouver, BC, V6T 1Z8, Canada.
authors: Michael S
authors: MS
authors: Kobor
mesh_terms: D000328:Adult; D018899:CpG Islands; D019175:DNA Methylation; D057890:Epigenomics; D004847:Epithelial Cells / Q000378:metabolism; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009061:Mouth Mucosa / Q000378:metabolism; D009928:Organ Specificity / Q000235:genetics; D012307:Risk Factors