ArticleThe Lancet. Oncology2021
Genetic variation in cervical preinvasive and invasive disease: a genome-wide association study.
Article in The Lancet. Oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 5 of them syntheses that pooled it.
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Who cites it
68 citing papers in PubMed, 5 syntheses or guidelines pooled it, 130 citations in OpenAlex.
- Association of EGFR and EGF gene polymorphisms with cervical cancer in a case-control study and cross-cancer meta-analysis.Scientific reports · 2026Pooled it
- Mendelian Randomization Studies of Major Depressive Disorder, Schizophrenia, Bipolar Disorder, and Cancers: A PRISMA Review and Meta-Analysis.Endocrine, metabolic & immune disorders drug targets · 2026Pooled it
- Risk factors for breast cancer: an umbrella review of observational cohort studies and causal relationship analysis.Frontiers in oncology · 2025Pooled it
- Risk factors for human papillomavirus infection, cervical intraepithelial neoplasia and cervical cancer: an umbrella review and follow-up Mendelian randomisation studies.BMC medicine · 2023Pooled it
- Human papillomavirus vaccination in women undergoing excisional treatment for cervical intraepithelial neoplasia and subsequent risk of recurrence: A systematic review and meta-analysis.Acta obstetricia et gynecologica Scandinavica · 2022Pooled it
- Polygenic risk scores and plasma proteomics identify cancer-related proteins and trans-regulated protein networks.Cell genomics · 2026Article
- MiR-4327 targets TP53 to promote cervical cancer cell proliferation.Functional & integrative genomics · 2026Article
- HPV16 genetic variation provides evidence of positive natural selection driven by HLA class I.Nature communications · 2026Article
- [Risk factors for cervical intraepithelial lesions among beneficiaries of second-level care].Revista medica del Instituto Mexicano del Seguro Social · 2026Observational
- Major histocompatibility complex class I chain-related A and B molecules and their potential role in virus-associated cancers.World journal of virology · 2026Review
- Human Papillomavirus in Reproductive Health and Pregnancy: Clinical Implications, Outcomes, and a Comprehensive Review of Vaccination.Vaccines · 2026Review
- Cervical Cancer Epidemiology: Global Incidence, Mortality, Survival, Risk Factors, and Equity in HPV Screening and Vaccination.Journal of clinical medicine · 2026Review
- HPV-Driven Cervical Carcinogenesis: Genetic and Epigenetic Mechanisms and Diagnostic Approaches.International journal of molecular sciences · 2026Review
- Signaling pathways and targeted interventions for precancers.Signal transduction and targeted therapy · 2026Review
- Review
- Proteome-wide curation of experimentally validated HPV T-cell epitopes identifies key gaps in our understanding of cellular immunity to HPV and informs vaccine design.Frontiers in immunology · 2026Article
- Genetically Predicted Gene Expression and Circulating Metabolites Associated with Cervical High-Grade Squamous Intraepithelial Lesion: A Mendelian Randomization Study.International journal of women's health · 2026Article
- Leveraging and partitioning polygenic risk scores to identify cancer-related proteins.medRxiv : the preprint server for health sciences · 2025Article
- Unveiling the expression and mechanistic role of SYCP2 in cervical lesions.Discover oncology · 2025Article
- RNA sequencing and bioinformatics analysis have identifiedTranslational cancer research · 2025Article
8 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 4 institutions in 3 countries.
Funding
Abstract
backgroundMost uterine cervical high-risk human papillomavirus (HPV) infections are transient, with only a small fraction developing into cervical cancer. Family aggregation studies and heritability estimates suggest a significant inherited genetic component. Candidate gene studies and previous genome-wide association studies (GWASs) report associations between the HLA region and cervical cancer. Adopting a genome-wide approach, we aimed to compare genetic variation in women with invasive cervical cancer and cervical intraepithelial neoplasia (CIN) grade 3 with that in healthy controls.
methodsWe did a GWAS in a cohort of unrelated European individuals using data from UK Biobank, a population-based cohort including 273 377 women aged 40-69 years at recruitment between March 13, 2006, and Oct 1, 2010. We used an additive univariate logistic regression model to analyse genetic variants associated with invasive cervical cancer or CIN3. We sought replication of candidate associations in FinnGen, a large independent dataset of 128 123 individuals. We also did a two-sample mendelian randomisation approach to explore the role of risk factors in the genetic risk of cervical cancer.
findingsWe included 4769 CIN3 and invasive cervical cancer case samples and 145 545 control samples in the GWAS. Of 9 600 464 assayed and imputed single-nucleotide polymorphisms (SNPs), six independent variants were associated with CIN3 and invasive cervical cancer. These included novel loci rs10175462 (PAX8; odds ratio [OR] 0·87, 95% CI 0·84-0·91; p=1·07 × 10
interpretationOur results provide new evidence for the genetic susceptibility to cervical cancer, specifically the PAX8, CLPTM1L, and HLA genes, suggesting disruption in apoptotic and immune function pathways. Future studies integrating host and viral, genetic, and epigenetic variation, could further elucidate complex host-viral interactions.
fundingNIHR Imperial BRC Wellcome 4i Clinician Scientist Training Programme.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.