Racial and ethnic representation in epigenomic studies of preterm birth: a systematic review

Epigenomics. 2021 Nov;13(21):1735-1746. doi: 10.2217/epi-2020-0007. Epub 2020 Dec 2.


Aim: We conducted a systematic review evaluating race/ethnicity representation in DNA methylomic studies of preterm birth. Data sources: PubMed, EMBASE, CINHAL, Scopus and relevant citations from 1 January 2000 to 30 June 2019. Study appraisal & synthesis methods: Two authors independently identified abstracts comparing DNA methylomic differences between term and preterm births that included race/ethnicity data. Results: 16 studies were included. Black and non-Hispanic Black deliveries were well represented (28%). However, large studies originating from more than 95% White populations were excluded due to unreported race/ethnicity data. Most studies were cross-sectional, allowing for reverse causation. Most studies were also racially/ethnically homogeneous, preventing direct comparison of DNA methylomic differences across race/ethnicities. Conclusion: In DNA methylomic studies, Black women and infants were well represented. However, the literature has limitations and precludes drawing definitive conclusions.

Keywords: DNA methylation; epigenetics; epigenomics; gestational age; health disparities; methylomics; pregnancy; preterm birth; race and ethnicity; systematic review.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Systematic Review

MeSH terms

  • Epigenomics
  • Ethnicity / genetics
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Premature Birth* / genetics