Effect of HIV infection and antiretroviral therapy initiation on genome-wide DNA methylation patternsResearch in context
Andrés Esteban-Cantos,
Javier Rodríguez-Centeno,
Juan C. Silla,
Pilar Barruz,
Fátima Sánchez-Cabo,
Gabriel Saiz-Medrano,
Julián Nevado,
Beatriz Mena-Garay,
María Jiménez-González,
Rosa de Miguel,
Jose I. Bernardino,
Rocío Montejano,
Julen Cadiñanos,
Cristina Marcelo,
Lucía Gutiérrez-García,
Patricia Martínez-Martín,
Cédrick Wallet,
François Raffi,
Berta Rodés,
José R. Arribas
Affiliations
Andrés Esteban-Cantos
CIBER of Infectious Diseases (CIBERINFEC), Madrid, Spain; HIV/AIDS and Infectious Diseases Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain
Javier Rodríguez-Centeno
CIBER of Infectious Diseases (CIBERINFEC), Madrid, Spain; HIV/AIDS and Infectious Diseases Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain
Juan C. Silla
Bioinformatics Unit, Spanish National Centre for Cardiovascular Research (CNIC), Madrid, Spain
Pilar Barruz
Genomics Laboratory, Institute of Medical and Molecular Genetics, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain
Fátima Sánchez-Cabo
Bioinformatics Unit, Spanish National Centre for Cardiovascular Research (CNIC), Madrid, Spain
Gabriel Saiz-Medrano
HIV/AIDS and Infectious Diseases Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain
Julián Nevado
Genomics Laboratory, Institute of Medical and Molecular Genetics, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain
Beatriz Mena-Garay
HIV/AIDS and Infectious Diseases Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain
María Jiménez-González
HIV/AIDS and Infectious Diseases Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain
Rosa de Miguel
CIBER of Infectious Diseases (CIBERINFEC), Madrid, Spain; Department of Internal Medicine, Infectious Diseases Unit, La Paz University Hospital, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain
Jose I. Bernardino
CIBER of Infectious Diseases (CIBERINFEC), Madrid, Spain; Department of Internal Medicine, Infectious Diseases Unit, La Paz University Hospital, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain
Rocío Montejano
CIBER of Infectious Diseases (CIBERINFEC), Madrid, Spain; Department of Internal Medicine, Infectious Diseases Unit, La Paz University Hospital, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain
Julen Cadiñanos
CIBER of Infectious Diseases (CIBERINFEC), Madrid, Spain; Department of Internal Medicine, Infectious Diseases Unit, La Paz University Hospital, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain
Cristina Marcelo
Department of Internal Medicine, Infectious Diseases Unit, La Paz University Hospital, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain
Lucía Gutiérrez-García
HIV/AIDS and Infectious Diseases Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain
Patricia Martínez-Martín
Department of Internal Medicine, Infectious Diseases Unit, La Paz University Hospital, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain
Cédrick Wallet
University of Bordeaux, INSERM, Bordeaux Population Health Research Centre, CHU de Bordeaux, Bordeaux, France
François Raffi
Centre Hospitalier Universitaire de Nantes and CIC 1413 INSERM, Nantes, France
Berta Rodés
CIBER of Infectious Diseases (CIBERINFEC), Madrid, Spain; HIV/AIDS and Infectious Diseases Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain; Corresponding author. HIV/AIDS and Infectious Diseases Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), CIBER of Infectious Diseases (CIBERINFEC), Paseo de La Castellana 261, 28046, Madrid, Spain.
José R. Arribas
CIBER of Infectious Diseases (CIBERINFEC), Madrid, Spain; Department of Internal Medicine, Infectious Diseases Unit, La Paz University Hospital, Hospital La Paz Institute for Health Research (IdiPAZ), Madrid, Spain; Corresponding author. Department of Internal Medicine, Infectious Diseases Unit, La Paz University Hospital, Hospital La Paz Institute for Health Research (IdiPAZ), CIBER of Infectious Diseases (CIBERINFEC), Paseo de La Castellana 261, 28046, Madrid, Spain.
Summary: Background: Previous epigenome-wide association studies have shown that HIV infection can disrupt the host DNA methylation landscape. However, it remains unclear how antiretroviral therapy (ART) affects the HIV-induced epigenetic modifications. Methods: 184 individuals with HIV from the NEAT001/ANRS143 clinical trial (with pre-ART and post-ART samples [96 weeks of follow-up]) and 44 age-and-sex matched individuals without HIV were included. We compared genome-wide DNA methylation profiles in whole blood between groups adjusting for age, sex, batch effects, and DNA methylation-based estimates of leucocyte composition. Findings: We identified 430 differentially methylated positions (DMPs) between HIV+ pre-ART individuals and HIV-uninfected controls. In participants with HIV, ART initiation modified the DNA methylation levels at 845 CpG positions and restored 49.3% of the changes found between HIV+ pre-ART and HIV-uninfected individuals. We only found 15 DMPs when comparing DNA methylation profiles between HIV+ post-ART individuals and participants without HIV. The Gene Ontology enrichment analysis of DMPs associated with untreated HIV infection revealed an enrichment in biological processes regulating the immune system and antiviral responses. In participants with untreated HIV infection, DNA methylation levels at top HIV-related DMPs were associated with CD4/CD8 ratios and viral loads. Changes in DNA methylation levels after ART initiation were weakly correlated with changes in CD4+ cell counts and the CD4/CD8 ratio. Interpretation: Control of HIV viraemia after 96 weeks of ART initiation partly restores the host DNA methylation changes that occurred before antiretroviral treatment of HIV infection. Funding: NEAT-ID Foundation and Instituto de Salud Carlos III, co-funded by European Union.