ArticleHuman molecular genetics2023
GWAS meta-analyses clarify the genetics of cervical phenotypes and inform risk stratification for cervical cancer.
Article in Human molecular genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 3 of them syntheses that pooled it.
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Who cites it
22 citing papers in PubMed, 3 syntheses or guidelines pooled it, 26 citations in OpenAlex.
- Multi-ancestry genome-wide association study of severe pregnancy nausea and vomiting.Nature genetics · 2026Pooled it
- Genome-wide association meta-analysis identifies five loci associated with postpartum hemorrhage.Nature genetics · 2024Pooled it
- Genome-wide association study meta-analysis supports association between MUC1 and ectopic pregnancy.Human reproduction (Oxford, England) · 2023Pooled it
- Absence of causal association between CD40-CD40L signaling and cervical cancer risk: A Mendelian randomization study.Medicine · 2026Article
- eQTL analysis: A bridge from genome to mechanism.Genes & diseases · 2026Review
- Role of human papillomavirus (HPV) variants and host genetic susceptibility in cervical carcinogenesis.Archives of microbiology · 2026Review
- HPV-Driven Cervical Carcinogenesis: Genetic and Epigenetic Mechanisms and Diagnostic Approaches.International journal of molecular sciences · 2026Review
- Investigating the relationship between taste perception of artificial sweeteners and cancer risk.Public health nutrition · 2026Article
- Insights into the tripartite relationship between cervical cancer, human papillomavirus, and the vaginal microbiome: a mega-analysis.Human genomics · 2025Article
- Targeting GPX4 to Induce Ferroptosis Overcomes Chemoresistance Mediated by the PAX8-AS1/GPX4 Axis in Intrahepatic Cholangiocarcinoma.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- CLPTM1L interacts with ERLIN2 to stabilize SREBP1 and drive tumorigenesis in nasopharyngeal carcinoma.Cell death & disease · 2025Article
- Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.Nature medicine · 2025Article
- The Estonian Biobank's journey from biobanking to personalized medicine.Nature communications · 2025Review
- Genome-Wide Association Analyses of HPV16 and HPV18 Seropositivity Identify Susceptibility Loci for Cervical Cancer.Journal of medical virology · 2025Article
- Multi-ancestry GWAS of severe pregnancy nausea and vomiting identifies risk loci associated with appetite, insulin signaling, and brain plasticity.Research square · 2024Article
- Multi-ancestry GWAS of severe pregnancy nausea and vomiting identifies risk loci associated with appetite, insulin signaling, and brain plasticity.medRxiv : the preprint server for health sciences · 2024Article
- Germline Variants in Proto-Oncogenes and Tumor Suppressor Genes in Women with Cervical Cancer.Biomedicines · 2024Article
- A genetic variant in the TAPBP gene enhances cervical cancer susceptibility by increasing mArchives of toxicology · 2024Article
- Role of rs2366152 single-nucleotide variant located in the long noncoding RNA HOTAIR gene in the cervical cancer susceptibility in a Polish population.Journal of applied genetics · 2024Article
- Cleft lip and palate transmembrane protein 1-like is a putative regulator of tumorigenesis and sensitization of cervical cancer cells to cisplatin.Frontiers in oncology · 2024Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association studies (GWAS) have successfully identified associations for cervical cancer, but the underlying mechanisms of cervical biology and pathology remain uncharacterised. Our GWAS meta-analyses fill this gap, as we characterise the genetic architecture of cervical phenotypes, including cervical ectropion, cervicitis, cervical dysplasia, as well as up to 9229 cases and 490 304 controls for cervical cancer from diverse ancestries. Leveraging the latest computational methods and gene expression data, we refine the association signals for cervical cancer and propose potential causal variants and genes at each locus. We prioritise PAX8/PAX8-AS1, LINC00339, CDC42, CLPTM1L, HLA-DRB1 and GSDMB as the most likely candidate genes for cervical cancer signals, providing insights into cervical cancer pathogenesis and supporting the involvement of reproductive tract development, immune response and cellular proliferation/apoptosis. We construct a genetic risk score (GRS) that is associated with cervical cancer [hazard ratios (HR) = 3.1 (1.7-5.6) for the top 15% vs lowest 15% of individuals], and with other HPV- and immune-system-related diagnoses in a phenome-wide association study analysis. Our results propose valuable leads for further functional studies and present a GRS for cervical cancer that allows additional risk stratification and could potentially be used to personalise the conventional screening strategies for groups more susceptible to cervical cancer.
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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.