Epigenome-wide association scan identifies methylation sites associated with HIV infection

Chang Shu, Andrew E. Jaffe, Sarven Sabunciyan, Hongkai Ji, Jacquie Astemborski, Jing Sun, Kelly M. Bakulski, Shruti H. Mehta, Gregory D. Kirk, Brion S. Maher

Research output: Contribution to journalArticlepeer-review


Aim: To investigate the role of epigenetics in HIV pathophysiology. Materials & methods: We conducted an epigenome-wide association scan on HIV infection status among people who inject drugs in the AIDS Linked to the IntraVenous Experience study with primary (n = 397) and validation samples (n = 390). DNA methylation from blood was measured by the Illumina EPIC BeadChip. We controlled for cell type heterogeneity by HIV status. Results: HIV infection status was associated (p < 10-8) with DNA methylation at 49 CpG sites. Sites were enriched in response to virus, interferon signaling pathway, etc. Among these sites, discovery and validation t-statistics were highly correlated (r = 0.96). Conclusion: In a cohort of people who inject drugs, HIV status was associated with differential DNA methylation at biologically meaningful sites.

Original languageEnglish (US)
Pages (from-to)1917-1927
Number of pages11
Issue number21
StatePublished - Nov 2020


  • DNA methylation
  • HIV
  • epigenetics
  • epigenome-wide association
  • people who inject drugs

ASJC Scopus subject areas

  • Genetics
  • Cancer Research


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