Recent work has highlighted a lack of diversity in genomic studies. However, less attention has been given to epigenomics. Here, we show that epigenomic studies are lacking in diversity and propose several solutions to address this problem.
References
Popejoy, A. B. & Fullerton, S. M. Nature 538, 161–164 (2016).
Sirugo, G., Williams, S. M. & Tishkoff, S. A. Cell 177, 26–31 (2019).
The ENCODE Project Consortium. Nature 489, 57–74 (2012).
Maurano, M. T. et al. Science 337, 1190–1195 (2012).
Claussnitzer, M. et al. N. Engl. J. Med. 373, 895–907 (2015).
Bravo González-Blas, C. et al. Nat. Methods 16, 397–400 (2019).
Grafodatskaya, D., Chung, B., Szatmari, P. & Weksberg, R. J. Am. Acad. Child Adolesc. Psychiatry 49, 794–809 (2010).
Husquin, L. T. et al. Genome Biol. 19, 222 (2018).
Breeze, C. E. et al. Genome Med. 13, 74 (2021).
Fraser, H. B., Lam, L. L., Neumann, S. M. & Kobor, M. S. Genome Biol. 13, R8 (2012).
Tsai, P.-C. et al. Clin. Epigenetics 10, 126 (2018).
Philibert, R. et al. Front. Psychol. 6, 656, https://doi.org/10.3389/fpsyg.2015.00656 (2015).
Lu, A. T. et al. Aging (Albany NY) 11, 303–327 (2019).
Birney, E., Smith, G. D. & Greally, J. M. PLoS Genet. 12, e1006105 (2016).
van Dongen, J. et al. Nat. Commun. 7, 11115 (2016).
Min, J. L. et al. Nat. Genet. 53, 1311–1321 (2021).
Bell, J. T. et al. Genome Biol. 12, R10 (2011).
Heyn, H. et al. Genome Res. 23, 1363–1372 (2013).
Visscher, P. M. et al. Am. J. Hum. Genet. 101, 5–22 (2017).
Visscher, P. M., Brown, M. A., McCarthy, M. I. & Yang, J. Am. J. Hum. Genet. 90, 7–24 (2012).
Welter, D. et al. Nucleic Acids Res. 42, D1001–D1006 (2014).
Edwards, S. L., Beesley, J., French, J. D. & Dunning, A. M. Am. J. Hum. Genet. 93, 779–797 (2013).
Trynka, G. et al. Nat Genet. 45, 124–130 (2013).
Tehranchi, A. et al. Elife 8, e39595 (2019).
Taitt, H. E. Am. J. Mens Health 12, 1807 (2018).
Mills, K. T. et al. Circulation 134, 441–450 (2016).
GBD Chronic Kidney Disease Collaboration. Lancet 395, 709–733 (2020).
Acknowledgements
This project was supported in part by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (C.E.B. and S.I.B.) and National Institutes of Health R01 MD012765, HL163972, DK117445 (grants to N.F.).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no competing interests.
Supplementary information
Supplementary Table
Experiment-specific information from publicly available IHEC data (downloaded 20 July 2021). Information includes ethnicity, experiment ID, assay, target of assay, biosample summary, biosample term name, lab, project status, and date of release of the experiment.
Rights and permissions
About this article
Cite this article
Breeze, C.E., Beck, S., Berndt, S.I. et al. The missing diversity in human epigenomic studies. Nat Genet 54, 737–739 (2022). https://doi.org/10.1038/s41588-022-01081-4
Published:
Issue Date:
DOI: https://doi.org/10.1038/s41588-022-01081-4
- Springer Nature America, Inc.
This article is cited by
-
African ancestry-derived APOL1 risk genotypes show proximal epigenetic associations
BMC Genomics (2024)
-
Epigenomic insights into common human disease pathology
Cellular and Molecular Life Sciences (2024)
-
Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference
Nature Genetics (2024)
-
New genetic and epigenetic insights into the chemokine system: the latest discoveries aiding progression toward precision medicine
Cellular & Molecular Immunology (2023)
-
An integrative framework and recommendations for the study of DNA methylation in the context of race and ethnicity
Discover Social Science and Health (2023)