The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
Differential DNA Methylation in Purified Human Blood Cells: Implications for Cell Lineage and Studies on Disease Susceptibility
Open accessAbstract
Methylation of cytosines at CpG sites is a common epigenetic DNA modification that can be measured by a large number of methods, now even in a genome-wide manner for hundreds of thousands of sites. The application of DNA methylation analysis is becoming widely popular in complex disorders, for example, to understand part of the "missing heritability". The DNA samples most readily available for methylation studies are derived from whole blood. However, blood consists of many functionally and developmentally distinct cell populations in varying proportions. We studied whether such variation might affect the interpretation of methylation studies based on whole blood DNA. We found in healthy male blood donors there is important variation in the methylation profiles of whole blood, mononuclear cells, granulocytes, and cells from seven selected purified lineages. CpG methylation between mononuclear cells and granulocytes differed for 22% of the 8252 probes covering the selected 343 genes implicated in immune-related disorders by genome-wide association studies, and at least one probe was differentially methylated for 85% of the genes, indicating that whole blood methylation results might be unintelligible. For individual genes, even if the overall methylation patterns might appear similar, a few CpG sites in the regulatory regions may have opposite methylation patterns (i.e., hypo/hyper) in the main blood cell types. We conclude that interpretation of whole blood methylation profiles should be performed with great caution and for any differences implicated in a disorder, the differences resulting from varying proportions of white blood cell types should be considered.
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Citations
Cites
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MethodTobacco-smoking-related differential DNA methylation: 27K discovery and replication
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“polymorphisms depending on parent-of-origin [14], DNA methylation differences in disease-discordant monozygotic twins [15,16,17], differences in DNA methylation related to environmental exposures [18,19], and DNA methylation differences in affected versus non-affected tissues [20,21].”
BackgroundDempster, E. L., Pidsley, R., Schalkwyk, L. C., Owens, S., Georgiades, A., Kane, F., Kalidindi, S., Picchioni, M., Kravariti, E., Toulopoulou, T., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr416 · Cited by 460
Cited by
DNA methylation age of human tissues and cell types
Horvath, S. (2013) · Genome Biology · doi:10.1186/gb-2013-14-10-r115 · Cited by 7,075
Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas
Abeshouse, A., Adebamowo, C., Adebamowo, S. N., Akbani, R., Akeredolu, T., Ally, A., Anderson, M. L., Anur, P., Appelbaum, E. L., Armenia, J., et al. (2017) · Cell · doi:10.1016/j.cell.2017.10.014 · Cited by 1,069
Accounting for cellular heterogeneity is critical in epigenome-wide association studies
Jaffe, A. E., & Irizarry, R. A. (2014) · Genome Biology · doi:10.1186/gb-2014-15-2-r31 · Cited by 1,067
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DNA methylation in newborns and maternal smoking in pregnancy: genome-wide consortium meta-analysis
Joubert, B. R., Felix, J. F., Yousefi, P., Bakulski, K. M., Just, A. C., Breton, C., Reese, S. E., Markunas, C. A., Richmond, R. C., Xu, C.-J., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.02.019 · Cited by 886
Self-citation
Metadata
- Authors
- Reinius, L. E., Acevedo, N., Joerink, M., Pershagen, G., Dahlén, S.-E., Greco, D., Söderhäll, C., Scheynius, A., & Kere, J.
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2012-07-25
- Volume
- 7
- Issue
- 7
- Pages
- e41361
- ISSN
- 1932-6203 (ISSN-L)
- OpenAlex
- W2011988545
- Cited by
- 1,035
- References
- 11
- FWCI
- 23.82
- Type
- journal article
- Language
- en
- Open access
- gold
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- Reinius, L. E., Acevedo, N., Joerink, M., Pershagen, G., Dahlén, S.-E., Greco, D., Söderhäll, C., Scheynius, A., & Kere, J. (2012). Differential DNA Methylation in Purified Human Blood Cells: Implications for Cell Lineage and Studies on Disease Susceptibility. PLoS ONE. https://doi.org/10.1371/journal.pone.0041361
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