ArticleNature communications2018
Gene expression imputation identifies candidate genes and susceptibility loci associated with cutaneous squamous cell carcinoma.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 4 of them syntheses that pooled it.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 4 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- Genetic determinants of skin ageing: a systematic review and meta-analysis of genome-wide association studies and candidate genes.Journal of physiological anthropology · 2025Pooled it
- A systematic review of skin ageing genes: gene pleiotropy and genes on the chromosomal band 16q24.3 may drive skin ageing.Scientific reports · 2022Pooled it
- Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways.Communications biology · 2022Pooled it
- Combined analysis of keratinocyte cancers identifies novel genome-wide loci.Human molecular genetics · 2019Pooled it
- Beyond the Classics: The Synergy of AI and Genomics Reveals an Expanded Repertoire of Pigmentation Genes.Journal of experimental zoology. Part B, Molecular and developmental evolution · 2026Review
- UBD: incorporating uncertainty in cell type proportion estimates from bulk samples to infer cell-type-specific profiles.Briefings in bioinformatics · 2026Article
- Incorporating local ancestry information to predict genetically associated DNA methylation in admixed populations.Briefings in bioinformatics · 2025Observational
- Comparing feature selection and machine learning approaches for predictingFrontiers in neuroinformatics · 2023Article
- Investigating the prediction of CpG methylation levels from SNP genotype data to help elucidate relationships between methylation, gene expression and complex traits.Genetic epidemiology · 2022Article
- Skin Cancer-AssociatedCancers · 2022Article
- Emerging precision diagnostics in advanced cutaneous squamous cell carcinoma.NPJ precision oncology · 2022Review
- Identification of key genes in cutaneous squamous cell carcinoma: a transcriptome sequencing and bioinformatics profiling study.Annals of translational medicine · 2021Article
- The Meaning of "Cause" in Genetics.Cold Spring Harbor perspectives in medicine · 2021Article
- Transcriptome-wide association analysis of brain structures yields insights into pleiotropy with complex neuropsychiatric traits.Nature communications · 2021Article
- Genotype-Based Gene Expression in Colon Tissue-Prediction Accuracy and Relationship with the Prognosis of Colorectal Cancer Patients.International journal of molecular sciences · 2020Article
- Review
- Integration of transcriptome-wide association study and messenger RNA expression profile to identify genes associated with osteoarthritis.Bone & joint research · 2020Article
- Turning genome-wide association study findings into opportunities for drug repositioning.Computational and structural biotechnology journal · 2020Review
- Research Techniques Made Simple: Interpreting Measures of Association in Clinical Research.The Journal of investigative dermatology · 2019Review
- Successful in situ 5-aminolevulinic acid photodynamic therapy in a 53-year-old female with cutaneous squamous cell carcinoma.Journal of Zhejiang University. Science. BArticle
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
Cutaneous squamous cell carcinoma (cSCC) is a common skin cancer with genetic susceptibility loci identified in recent genome-wide association studies (GWAS). Transcriptome-wide association studies (TWAS) using imputed gene expression levels can identify additional gene-level associations. Here we impute gene expression levels in 6891 cSCC cases and 54,566 controls in the Kaiser Permanente Genetic Epidemiology Research in Adult Health and Aging (GERA) cohort and 25,558 self-reported cSCC cases and 673,788 controls from 23andMe. In a discovery-validation study, we identify 19 loci containing 33 genes whose imputed expression levels are associated with cSCC at false discovery rate < 10% in the GERA cohort and validate 15 of these candidate genes at Bonferroni significance in the 23andMe dataset, including eight genes in five novel susceptibility loci and seven genes in four previously associated loci. These results suggest genetic mechanisms contributing to cSCC risk and illustrate advantages and disadvantages of TWAS as a supplement to traditional GWAS analyses.
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Registered trials
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.