Genome-Wide Association Study on the Risk of Contracting Human Papillomavirus and Developing Chronic Infections in Women Living with HIV in Rwanda

Abstract We conducted the first genome-wide association study (GWAS) in Africa to identify single nucleotide polymorphisms (SNPs) and validate biomarkers linked to the acquisition and chronicity of human papillomavirus (HPV) infection. Genotyping of blood samples and qPCR on genital swab samples from 385 Rwandan women living with HIV were performed to assess the expression of HPVs, genes associated with the detected SNPs and previously identified biomarkers for chronic HPV infection. We identified previously known and novel SNPs and biological pathways linked to HPV infection and cervical cancer. The most significant SNP associated with HPV chronicity was rs13158830 located in PPARGC1B intron 1. The MIR378A gene, embedded in the same intron, and EIF1 were significantly overexpressed in HPV-positive participants. In conclusion, we report novel SNPs linked to HPV acquisition and chronic infection. These findings suggest potential for genetic screening to identify women at elevated cervical cancer risk enabling improved monitoring and follow-up.