ArticleCarcinogenesis2012
Pathway analysis of genome-wide association study data highlights pancreatic development genes as susceptibility factors for pancreatic cancer.
Article in Carcinogenesis, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 4 of them syntheses that pooled it.
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Who cites it
67 citing papers in PubMed, 4 syntheses or guidelines pooled it, 115 citations in OpenAlex.
- Effect of metabolic genetic variants on long-term disease comorbidity in patients with type 2 diabetes.Scientific reports · 2021Pooled it
- Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer.Nature communications · 2020Pooled it
- Association of ABO polymorphisms and pancreatic Cancer/ Cardiocerebrovascular disease: a meta-analysis.BMC medical genetics · 2020Pooled it
- Agnostic Pathway/Gene Set Analysis of Genome-Wide Association Data Identifies Associations for Pancreatic Cancer.Journal of the National Cancer Institute · 2019Pooled it
- Pancreatic cancer risk prediction using deep sequential modeling of longitudinal diagnostic and medication records.Cell reports. Medicine · 2025Article
- ROR2 Regulates Cellular Plasticity in Pancreatic Neoplasia and Adenocarcinoma.Cancer discovery · 2024Article
- Genetic and other risk factors for pancreatic ductal adenocarcinoma (PDAC).Familial cancer · 2024Review
- ROR2 regulates cellular plasticity in pancreatic neoplasia and adenocarcinoma.bioRxiv : the preprint server for biology · 2024Article
- Birthweight, genetic risk, and gastrointestinal cancer incidence: a prospective cohort study.Annals of medicine · 2023Article
- A deep learning algorithm to predict risk of pancreatic cancer from disease trajectories.Nature medicine · 2023Article
- HNF1A regulates oxaliplatin resistance in pancreatic cancer by targeting 53BP1.International journal of oncology · 2023Article
- Mitochondria-RelatedGenes · 2023Article
- Context-Specific Determinants of the Immunosuppressive Tumor Microenvironment in Pancreatic Cancer.Cancer discovery · 2023Review
- Tumor cell heterogeneity and its transcriptional bases in pancreatic cancer: a tale of two cell types and their many variants.The EMBO journal · 2021Review
- Insights into the etiology and physiopathology of MODY5/HNF1B pancreatic phenotype with a mouse model of the human disease.The Journal of pathology · 2021Article
- Article
- Susceptibility loci for pancreatic cancer in the Brazilian population.BMC medical genomics · 2021Article
- Hepatocyte nuclear factor 1 beta: A perspective in cancer.Cancer medicine · 2021Review
- Metformin inhibits pancreatic cancer metastasis caused by SMAD4 deficiency and consequent HNF4G upregulation.Protein & cell · 2021Article
- A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer.Genome medicine · 2021Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
63 authors at 20 institutions in 12 countries.
Funding
Abstract
Four loci have been associated with pancreatic cancer through genome-wide association studies (GWAS). Pathway-based analysis of GWAS data is a complementary approach to identify groups of genes or biological pathways enriched with disease-associated single-nucleotide polymorphisms (SNPs) whose individual effect sizes may be too small to be detected by standard single-locus methods. We used the adaptive rank truncated product method in a pathway-based analysis of GWAS data from 3851 pancreatic cancer cases and 3934 control participants pooled from 12 cohort studies and 8 case-control studies (PanScan). We compiled 23 biological pathways hypothesized to be relevant to pancreatic cancer and observed a nominal association between pancreatic cancer and five pathways (P < 0.05), i.e. pancreatic development, Helicobacter pylori lacto/neolacto, hedgehog, Th1/Th2 immune response and apoptosis (P = 2.0 × 10(-6), 1.6 × 10(-5), 0.0019, 0.019 and 0.023, respectively). After excluding previously identified genes from the original GWAS in three pathways (NR5A2, ABO and SHH), the pancreatic development pathway remained significant (P = 8.3 × 10(-5)), whereas the others did not. The most significant genes (P < 0.01) in the five pathways were NR5A2, HNF1A, HNF4G and PDX1 for pancreatic development; ABO for H.pylori lacto/neolacto; SHH for hedgehog; TGFBR2 and CCL18 for Th1/Th2 immune response and MAPK8 and BCL2L11 for apoptosis. Our results provide a link between inherited variation in genes important for pancreatic development and cancer and show that pathway-based approaches to analysis of GWAS data can yield important insights into the collective role of genetic risk variants in cancer.
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