ArticleGenome medicine2021
Genetic and functional interaction network analysis reveals global enrichment of regulatory T cell genes influencing basal cell carcinoma susceptibility.
Article in Genome medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.Communications biology · 2024Pooled it
- Adolescents at the crossroads: genetic associations between psychotic symptoms and antisocial traits.European child & adolescent psychiatry · 2026Article
- Integrative machine learning reveals hidden and emerging co-regulatory gene networks for multi-phase glioblastoma outcome prediction.European journal of cancer (Oxford, England : 1990) · 2026Article
- Article
- Multi-trait association analysis reveals shared genetic architecture between lung cancer and cardiometabolic diseases.iScience · 2025Article
- Association of immune cells with the risk of basal cell carcinoma: A bidirectional Mendelian randomized study.Medicine · 2025Article
- The significance of DNA methylation pattern in the etiology of basal cell carcinoma.Archives of dermatological research · 2025Article
- Novel genetic loci and functional properties of immune-related genes for colorectal cancer survival in Korea.BMC cancer · 2025Article
- Unveiling novel susceptibility genes and drug targets for basal cell carcinoma by a cross-tissue transcriptome-wide association study.Discover oncology · 2025Article
- Mendelian Randomization Analysis Supports a Causal Relationship Between Circulating Inflammatory Proteins and Basal Cell Carcinoma.Clinical, cosmetic and investigational dermatology · 2025Article
- No genetic causal links detected between antihypertensive medications and bladder cancer: insights from a trans-ancestry, drug-target Mendelian randomization analysis.Archives of medical science : AMS · 2025Article
- Systematic proteome-wide Mendelian randomization to prioritize causal plasma proteins for skin cancers.Communications biology · 2024Article
- Interactions between hedgehog signaling pathway and the complex tumor microenvironment in breast cancer: current knowledge and therapeutic promises.Cell communication and signaling : CCS · 2024Review
- Skin Development and Disease: A Molecular Perspective.Current issues in molecular biology · 2024Review
- Causal association between skin cancer and immune cells: mendelian randomization (MR) study.BMC cancer · 2024Article
- CoPheScan: phenome-wide association studies accounting for linkage disequilibrium.Nature communications · 2024Article
- Oral and non-oral lichen planus show genetic heterogeneity and differential risk for autoimmune disease and oral cancer.American journal of human genetics · 2024Article
- Common and novel haplotype structures between different types of cancer.Cancer reports (Hoboken, N.J.) · 2024Article
- Genetic causal relationship between gut microbiota and basal cell carcinoma: A two-sample mendelian randomization study.Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) · 2024Article
- rs2736098, a synonymous polymorphism, is associated with carcinogenesis and cell count in multiple tissue types by regulatingHeliyon · 2024Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBasal cell carcinoma (BCC) of the skin is the most common form of human cancer, with more than 90% of tumours presenting with clear genetic activation of the Hedgehog pathway. However, polygenic risk factors affecting mechanisms such as DNA repair and cell cycle checkpoints or which modulate the tumour microenvironment or host immune system play significant roles in determining whether genetic mutations culminate in BCC development. We set out to define background genetic factors that play a role in influencing BCC susceptibility via promoting or suppressing the effects of oncogenic drivers of BCC.
methodsWe performed genome-wide association studies (GWAS) on 17,416 cases and 375,455 controls. We subsequently performed statistical analysis by integrating data from population-based genetic studies of multi-omics data, including blood- and skin-specific expression quantitative trait loci and methylation quantitative trait loci, thereby defining a list of functionally relevant candidate BCC susceptibility genes from our GWAS loci. We also constructed a local GWAS functional interaction network (consisting of GWAS nearest genes) and another functional interaction network, consisting specifically of candidate BCC susceptibility genes.
resultsA total of 71 GWAS loci and 46 functional candidate BCC susceptibility genes were identified. Increased risk of BCC was associated with the decreased expression of 26 susceptibility genes and increased expression of 20 susceptibility genes. Pathway analysis of the functional candidate gene regulatory network revealed strong enrichment for cell cycle, cell death, and immune regulation processes, with a global enrichment of genes and proteins linked to T
conclusionsOur genome-wide association analyses and functional interaction network analysis reveal an enrichment of risk variants that function in an immunosuppressive regulatory network, likely hindering cancer immune surveillance and effective antitumour immunity.
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