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Table 1 Summary of DNAm EWAS in cohorts of PWH

From: Epigenome-wide epidemiologic studies of human immunodeficiency virus infection, treatment, and disease progression

Outcomes

Study design and characteristics of the study population

Platform

Key findings

DNAm in HIV+ individuals with viremia [27]

Case–control study

viremic HIV+ individuals compared to HIV-negative controls

US veterans, predominantly male

N = 186

450 K

20 differentially methylated sites identified in the HIV+ cohort compared to the HIV− controls

Hypomethylation of CpGs in promoter of NLRC5 gene associated with HIV infection

DNAm of HIV 5’ LTR in HIV+ individuals on suppressive ART [28]

Cross-sectional study

aviremic HIV+ individuals on suppressive ART

N = 11

Targeted

Low levels of methylated CpGs within the HIV 5’ LTR

DNAm of HIV 5’ LTR of HIV+ individuals on suppressive ART [29]

Case control study

aviremic individuals on ART compared to control group of viremic patients

N = 6

Targeted

High levels of DNAm in aviremic patients compared to < 0.1% of CpGs pf HIV-1 promoters in viremic patients

DNAm profile HIV+ children with suppressed viral load [26]

Case control study

HIV+ children on ART with undetectable VL and matched HIV- controls

N = 180

450 K

1309 differentially methylates CpGs in HIV+ children compared to age-matched HIV- controls

Strong differential methylation in the region of NLRC5 gene as seen in adult cohorts

Association between blood DNAm and lung function in HIV+ [22]

Cohort study

HIV+ adults, detectable VL, not on ART and CD4 counts > 500, > 40 years old

N = 161

850 K

Airflow obstruction defined by FEV1/FVC < 0.7 associated with differential DNAm

Association between DNAm changes and eGFR in HIV+ individuals [31]

Case control study

All male participants

HIV + individuals and HIV- controls

450 K

15 differentially methylated CpG sites associated with eGFR in HIV + individuals

DNAm of PBMCs in HIV+ individuals with cognitive impairment [33]

Case control study

HIV+ individuals and HIV− controls

N = 31

450 K

1032 differentially methylated CpG sites associated with CI in HIV+ individuals compared to HIV− controls

Epigenetic association with T2DM by HIV status and interaction effects [36]

Case control study

HIV+ individuals and HIV− controls

N = 681

450 K

Identification of several CpG sites in HIV+ individuals associated with T2DM

Association between EWAS of smoking and HIV prognosis and mortality [45]

Retrospective cohort

1137 HIV+ individuals

450 K and 850 K

Identification of 137 CpGs associated with smoking in PWH. DNAm CpGs also shown to be predictive of prognosis and mortality in PWH

Mediation role of DNAm sites on the effect of cocaine use on HIV severity [48]

Longitudinal cohort study

HIV+ veterans

N = 1081

450 K

Identification of 12 differentially methylated CpG sites with significant mediation effects

Interacting epigenetic factors in HIV+ individuals with HCV co-infection and IVDU [53]

Case control study

HIV+ individuals with HCV and IVDU and HCV−/IVDU− controls

N = 798

450 K

Significant methylation differences in genomes of HIV+/IVDU+/HCV+ individuals compared to controls

Patterns of DNAm associated with progression of HIV infection [55]

Case control study

HIV+ elite controllers, HIV+ individuals on ART with detectable VL, aviremic HIV+ individuals on ART, HIV- controls

N = 85 samples from 64 individuals

850 K

Differential methylation in CpG sites in viremic HIV+ individuals compared to HIV- controls, between viremic and aviremic individuals on ART and viremic individuals and elite controllers. No differences in DNAm in elite controllers compared to HIV− individuals

Association between DNAm and mortality in HIV+ individuals [56]

Cohort study

HIV+ veterans form the VACS cohort

N = 1081

450 K

393 CpG sites identified with excellent performance for predicting mortality risk in HIV+ individuals with high VACS score

  1. LTR long terminal repeat, HIV human immunodeficiency virus, VACS Veterans Aging Cohort Study, DNA deoxyribonucleic acid, m-DNAm DNA methylation, T2DM type 2 diabetes mellitus, VL viral load, HCV hepatitis C virus, CI cognitive impairment, IVDU intravenous drug use, PWH people with HIV, FEV forced expiratory volume, FVC forced vital capacity, ART antiretroviral therapy, EWAS epigenome-wide association study