2021
A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer
López de Maturana E, Rodríguez JA, Alonso L, Lao O, Molina-Montes E, Martín-Antoniano IA, Gómez-Rubio P, Lawlor R, Carrato A, Hidalgo M, Iglesias M, Molero X, Löhr M, Michalski C, Perea J, O’Rorke M, Barberà VM, Tardón A, Farré A, Muñoz-Bellvís L, Crnogorac-Jurcevic T, Domínguez-Muñoz E, Gress T, Greenhalf W, Sharp L, Arnes L, Cecchini L, Balsells J, Costello E, Ilzarbe L, Kleeff J, Kong B, Márquez M, Mora J, O’Driscoll D, Scarpa A, Ye W, Yu J, García-Closas M, Kogevinas M, Rothman N, Silverman D, Albanes D, Arslan A, Beane-Freeman L, Bracci P, Brennan P, Bueno-de-Mesquita B, Buring J, Canzian F, Du M, Gallinger S, Gaziano J, Goodman P, Gunter M, LeMarchand L, Li D, Neale R, Peters U, Petersen G, Risch H, Sánchez M, Shu X, Thornquist M, Visvanathan K, Zheng W, Chanock S, Easton D, Wolpin B, Stolzenberg-Solomon R, Klein A, Amundadottir L, Marti-Renom M, Real F, Malats N. A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer. Genome Medicine 2021, 13: 15. PMID: 33517887, PMCID: PMC7849104, DOI: 10.1186/s13073-020-00816-4.Peer-Reviewed Original ResearchConceptsSilico functional analysisFunctional analysisPublic genomic informationUnfolded protein responseMeta-analysis p-valueLow-frequency variantsPc locusGWAS hitsGenomic informationPhenotypic varianceProtein responseSpatial autocorrelation analysisER stressMajor regulatorFrequency variantsPancreatic acinar cellsGenetic susceptibilityCandidate variantsFactor interplayComplex diseasesIndependent variantsGWASInherited basisLow p-valuesAcinar cells
2019
Analysis of Heritability and Genetic Architecture of Pancreatic Cancer: A PanC4 Study
Chen F, Childs EJ, Mocci E, Bracci P, Gallinger S, Li D, Neale RE, Olson SH, Scelo G, Bamlet WR, Blackford AL, Borges M, Brennan P, Chaffee KG, Duggal P, Hassan MJ, Holly EA, Hung RJ, Goggins MG, Kurtz RC, Oberg AL, Orlow I, Yu H, Petersen GM, Risch H, Klein AP. Analysis of Heritability and Genetic Architecture of Pancreatic Cancer: A PanC4 Study. Cancer Epidemiology Biomarkers & Prevention 2019, 28: 1238-1245. PMID: 31015203, PMCID: PMC6606380, DOI: 10.1158/1055-9965.epi-18-1235.Peer-Reviewed Original ResearchConceptsGWAS dataOverall heritabilityGenome-wide association study dataTotal phenotypic variationAssociation study dataPancreatic cancer susceptibility genesTotal phenotypic varianceAnalysis of heritabilityGWAS lociGenetic architectureFunctional annotationCancer susceptibility genesPhenotypic variationLoci accountPhenotypic varianceLinkage disequilibriumSusceptibility genesHeritabilityCommon variantsIntronic variantsEuropean ancestryGenesRare variants