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Peer-reviewedCC BY 4.0Infectious Agents and Cancer

Genome-wide association study of human papillomavirus infection and persistence in women living with HIV in Rwanda

  • Åsa Torinsson Naluai1
  • Schifra Uwamungu2,3
  • Maria Andersson4
  • Bethelehem Nigussie Zewdie5
  • Claude Mambo Muvunyi6,7
  • Emile Bienvenu8,9
  • Bengt Hasséus10
  • Daniel Giglio2,11,12
12 affiliations
  1. 1Department of Laboratory Medicine, Institute of Biomedicine and Core Facilities, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
  2. 2Department of Pharmacology, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
  3. 3Department of Biomedical Laboratory Sciences, School of Health Sciences, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda
  4. 4Department of Infectious Diseases, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
  5. 5Communicable and Non-communicable Diseases Research Directorate, Armauer Hansen Research Institute, Addis Ababa, P.O. Box 1005, Ethiopia
  6. 6Department of Clinical Biology, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda
  7. 7Rwanda Biomedical Centre, Kigali, Rwanda
  8. 8Rwanda Food and Drugs Authority, Kigali, Rwanda
  9. 9Department of Pharmacy, School of Medicine and Pharmacy, University of Rwanda, Kigali, Rwanda
  10. 10Department of Oral Medicine and Pathology, Institute of Odontology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
  11. 11Department of Medicine and Oncology, Southern Älvsborg Hospital, Borås, Sweden
  12. 12Department of Oncology, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Blå Stråket 2, Gothenburg, SE-41345 Sweden
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Abstract

Background: We conducted an explorative genome-wide association study (GWAS) in East Africa to identify host genetic variants associated with the acquisition and persistence of human papillomavirus (HPV) infection.

Methods: We genotyped 385 Rwandan women living with HIV and selected host biomarker assay signals from genital swab samples using qPCR. We compared women who cleared HPV over a two-year interval (operationally defined as persistent infection), with those who did not. Exploratory gene-based aggregation analyses of rare and low-frequency variants represented on the genotyping array were also performed.

Results: In the primary cluster-stratified Cochran–Mantel–Haenszel analysis, rs13158830 within PPARGC1B exceeded the conventional genome-wide significance threshold for persistent HPV infection. The nearby MIR378A gene-expression assay signal was higher in HPV-positive women but did not distinguish clearance from persistence.

Conclusions: We identified an exploratory host genetic association with persistent HPV infection and several additional candidate loci. The lead rs13158830 signal remained evident in Fisher exact testing and PC-adjusted Firth regression, but the small number of carriers produced substantial uncertainty. These findings require replication in independent cohorts.

Clinical trial registration: Not applicable.

Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1186/s13027-026-00815-x.

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Cite

BibTeXRIS
BibTeX
@article{naluai2026genomewide,
  title = {{Genome-wide association study of human papillomavirus infection and persistence in women living with HIV in Rwanda}},
  author = {Åsa Torinsson Naluai and Schifra Uwamungu and Maria Andersson and Bethelehem Nigussie Zewdie and Claude Mambo Muvunyi and Emile Bienvenu and Bengt Hasséus and Daniel Giglio},
  journal = {Infectious Agents and Cancer},
  year = {2026},
  month = oct,
  doi = {10.1186/s13027-026-00815-x},
  url = {https://doi.org/10.1186/s13027-026-00815-x},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Genome-wide association study of human papillomavirus infection and persistence in women living with HIV in Rwanda
AU  - Åsa Torinsson Naluai
AU  - Schifra Uwamungu
AU  - Maria Andersson
AU  - Bethelehem Nigussie Zewdie
AU  - Claude Mambo Muvunyi
AU  - Emile Bienvenu
AU  - Bengt Hasséus
AU  - Daniel Giglio
PY  - 2026
DA  - 2026/10/26
JO  - Infectious Agents and Cancer
DO  - 10.1186/s13027-026-00815-x
UR  - https://doi.org/10.1186/s13027-026-00815-x
AB  - Background: We conducted an explorative genome-wide association study (GWAS) in East Africa to identify host genetic variants associated with the acquisition and persistence of human papillomavirus (HPV) infection.  Methods: We genotyped 385 Rwandan women living with HIV and selected host biomarker assay signals from genital swab samples using qPCR. We compared women who cleared HPV over a two-year interval (operationally defined as persistent infection), with those who did not. Exploratory gene-based aggregation analyses of rare and low-frequency variants represented on the genotyping array were also performed.  Results: In the primary cluster-stratified Cochran–Mantel–Haenszel analysis, rs13158830 within PPARGC1B exceeded the conventional genome-wide significance threshold for persistent HPV infection. The nearby MIR378A gene-expression assay signal was higher in HPV-positive women but did not distinguish clearance from persistence.  Conclusions: We identified an exploratory host genetic association with persistent HPV infection and several additional candidate loci. The lead rs13158830 signal remained evident in Fisher exact testing and PC-adjusted Firth regression, but the small number of carriers produced substantial uncertainty. These findings require replication in independent cohorts.  Clinical trial registration: Not applicable.  Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1186/s13027-026-00815-x.
SN  - 1750-9378
ER  -