Epigenetic Association with Estimated Glomerular Filtration Rate (eGFR) among HIV-infected Individuals Open Access

Junyu Chen (Spring 2018)

Permanent URL: https://etd.library.emory.edu/concern/etds/3197xm11z?locale=en


People living with human immunodeficiency virus (HIV) infection have higher risk for chronic kidney disease (CKD), defined by reduced estimated glomerular filtration rate (eGFR). Previous studies have implicated epigenetic changes contributing to CKD, however, mechanism of HIV-related CKD has not been thoroughly investigated. We conducted an epigenome-wide association studies of eGFR among 567 HIV-infected and 117 HIV-uninfected Veterans Aging Cohort Study (VACS) participants to identify epigenetic signatures of kidney function. By surveying over 400,000 CpG sites measured on peripheral blood, we identified 15 and 16 sites significantly associated with eGFR (false discovery rate q-value < 0.05) among the HIV-infected and total study population, respectively. The most significant CpG sites, located at MAD1L1, TSNARE1/BAI1, and LTV1, were all negatively associated with eGFR (cg06329547: p-value of 5.25´10-9; cg23281907: p-value of 1.37´10-8; cg18368637: p-value of 5.17´10-8). These identified associations were not significant among HIV-uninfected participants. We also replicated previously reported eGFR-associated CpG sites including cg17944885 located between ZNF788 and ZNF20 on chromosome 19 (p-value of 2.5´10-5). Our findings highlighted novel epigenetic associations with kidney function among people living with HIV, and suggested potential epigenetic mechanism linked with HIV-related CKD risk.


Table of Contents

Literature Review 1-2

Introduction 3-5

Methods 6-10

Results 10-13

Discussion 13-20

Tables 21-24

Figures 25-26

Reference 27-37

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