Certain genetic variants can increase an individual’s risk for prevalent or persistent human papillomavirus (HPV) infections and the subsequent potential to develop cervical cancer, researchers reported in study findings published in the European Journal of Human Genetics. They identified three variants that increased an individual’s risk for HPV and one that lowered their risk.
Globally, HPV is the second most-common cancer-causing virus, “accounting for 31.4% of all infection-attributable cancers,” the researchers said. More than 80% of assigned females will be infected with HPV during their life, but the infection clears within two years for most individuals. In some cases, however, the immune system allows the infection to persist, possibly contributing to the development of cancer. The incidence and burden of HPV-related cervical cancers are particularly high in nations with limited resources.
For their investigation, the researchers conducted a genome-wide association study using data from 11,500 assigned females in the African Collaborative Center for Microbiome and Genomics Research cohort study in Nigeria. Of those, 903 had high-risk HPV infections at the start of the study period—224 that resolved and 679 that became persistent infections. Another 9,846 patients in the cohort were HPV-negative and served as controls.
After conducting several meta-analyses, they found that variants in TPTE2, SMAD2, and CDH12—genes already connected to the development of several other types of cancer—were associated with persistent HPV infections. Additionally, variants in LDB2 were associated with prevalent HPV infections.
“We found that certain genetic variants were associated with having high-risk HPV infections, while other variants and human leukocyte antigen genes were associated with persistent infections—which increase the risk of developing cervical cancer,” primary author Sally N. Adebamowo, MBBS, MSc, ScD, said in a subsequent interview. “This is a critical finding that suggests genetic underpinnings for cervical cancer risk.
“This is the first adequately powered genome-wide association study of prevalent and persistent HPV infection, and it revealed significant associations with genetic variants, gene sets and pathways, HLA alleles, haplotypes, and amino acids,” the researchers wrote. However, they recognized some limitations.
Learn more about the known biomarkers for cervical cancer and the associated targeted therapies in the ONS Biomarker Database, your go-to education tool and clinical decision support software as an oncology nurse or clinician.