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Association between Ten-Eleven Methylcytosine Dioxygenase 2 Genetic Variation and Viral Load in People with HIV

Murray, Daniel D.
Grund, Birgit
MacPherson, Cameron R.
Ekenberg, Christina
Zucco, Adrian G.
Reekie, Joanne
Dominguez-Dominguez, Lourdes
Leung, Preston
Fusco, Dahlene
Gras, Julien
Gerstoft, Jan
Helleberg, Marie
Borges, Álvaro H.
Polizzotto, Mark N.
Lundgren, Jens D.
Table of Contents

Abstract
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Introduction:~ Identifying genetic factors that influence HIV-pathogenesis is critical for understanding disease pathways. Previous studies have suggested a role for the human gene ten-eleven methylcytosine dioxygenase 2 (TET2) in modulating HIV-pathogenesis. Methods:~ We assessed whether genetic variation in TET2 was associated with markers of HIV-pathogenesis using both gene level and single nucleotide polymorphism (SNP) level association in 8512 HIV-positive persons across five clinical trial cohorts. Results:~ Variation at both the gene and SNP-level of TET2 was found to be associated with levels of HIV viral load (HIV-VL) consistently in the two cohorts that recruited antiretroviral-naïve participants. The SNPs occurred in two clusters of high linkage disequilibrium (LD), one associated with high HIV-VL and the other low HIV-VL, and were predominantly found in Black participants. Conclusion:~ Genetic variation in TET2 was associated with HIV-VL in two large antiretroviral therapy (ART)-naive clinical trial cohorts. The role of TET2 in HIV-pathogenesis warrants further investigation.

To cite this publication, please use the following BibTeX entry:

@article{murrayAssociationTenelevenMethylcytosine2023,
  abstract = {Introduction:~         Identifying genetic factors that influence HIV-pathogenesis is critical for understanding disease pathways. Previous studies have suggested a role for the human gene ten-eleven methylcytosine dioxygenase 2 (TET2) in modulating HIV-pathogenesis.         Methods:~         We assessed whether genetic variation in TET2 was associated with markers of HIV-pathogenesis using both gene level and single nucleotide polymorphism (SNP) level association in 8512 HIV-positive persons across five clinical trial cohorts.         Results:~         Variation at both the gene and SNP-level of TET2 was found to be associated with levels of HIV viral load (HIV-VL) consistently in the two cohorts that recruited antiretroviral-naïve participants. The SNPs occurred in two clusters of high linkage disequilibrium (LD), one associated with high HIV-VL and the other low HIV-VL, and were predominantly found in Black participants.         Conclusion:~         Genetic variation in TET2 was associated with HIV-VL in two large antiretroviral therapy (ART)-naive clinical trial cohorts. The role of TET2 in HIV-pathogenesis warrants further investigation.},
  author = {Murray, Daniel D. and Grund, Birgit and MacPherson, Cameron R. and Ekenberg, Christina and Zucco, Adrian G. and Reekie, Joanne and Dominguez-Dominguez, Lourdes and Leung, Preston and Fusco, Dahlene and Gras, Julien and Gerstoft, Jan and Helleberg, Marie and Borges, Álvaro H. and Polizzotto, Mark N. and Lundgren, Jens D.},
  doi = {10.1097/QAD.0000000000003427},
  issn = {0269-9370},
  journal = {AIDS},
  langid = {american},
  month = {March},
  number = {3},
  pages = {379},
  title = {Association between Ten-Eleven Methylcytosine Dioxygenase 2 Genetic Variation and Viral Load in People with HIV},
  urldate = {2023-03-11},
  volume = {37},
  year = {2023}
}