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
2020
Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer
Lin Y, Nakatochi M, Hosono Y, Ito H, Kamatani Y, Inoko A, Sakamoto H, Kinoshita F, Kobayashi Y, Ishii H, Ozaka M, Sasaki T, Matsuyama M, Sasahira N, Morimoto M, Kobayashi S, Fukushima T, Ueno M, Ohkawa S, Egawa N, Kuruma S, Mori M, Nakao H, Adachi Y, Okuda M, Osaki T, Kamiya S, Wang C, Hara K, Shimizu Y, Miyamoto T, Hayashi Y, Ebi H, Kohmoto T, Imoto I, Kasugai Y, Murakami Y, Akiyama M, Ishigaki K, Matsuda K, Hirata M, Shimada K, Okusaka T, Kawaguchi T, Takahashi M, Watanabe Y, Kuriki K, Kadota A, Okada R, Mikami H, Takezaki T, Suzuki S, Yamaji T, Iwasaki M, Sawada N, Goto A, Kinoshita K, Fuse N, Katsuoka F, Shimizu A, Nishizuka SS, Tanno K, Suzuki K, Okada Y, Horikoshi M, Yamauchi T, Kadowaki T, Yu H, Zhong J, Amundadottir LT, Doki Y, Ishii H, Eguchi H, Bogumil D, Haiman CA, Le Marchand L, Mori M, Risch H, Setiawan VW, Tsugane S, Wakai K, Yoshida T, Matsuda F, Kubo M, Kikuchi S, Matsuo K. Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer. Nature Communications 2020, 11: 3175. PMID: 32581250, PMCID: PMC7314803, DOI: 10.1038/s41467-020-16711-w.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsGenome-wide significant lociLead single nucleotide polymorphismsGenome-wide association studiesGene variantsMeta-analysis identifiesEast Asian ancestryEast Asian originSignificant lociRisk lociFunctional analysisAssociation studiesPancreatic cancer susceptibilityRisk variantsNucleotide polymorphismsCell linesGene risk variantsCancer susceptibilityLociAsian ancestryKRAS activityAsian originVariantsPancreatic cancerPopulation
2019
Functional analysis and fine mapping of the 9p22.2 ovarian cancer susceptibility locus
Buckley MA, Woods NT, Tyrer JP, Mendoza-Fandiño G, Lawrenson K, Hazelett DJ, Najafabadi HS, Gjyshi A, Carvalho RS, Lyra PC, Coetzee SG, Shen HC, Yang AW, Earp MA, Yoder S, Risch H, Chenevix-Trench G, Ramus SJ, Phelan CM, Coetzee GA, Noushmehr H, Hughes TR, Sellers TA, Goode EL, Pharoah P, Gayther SA, Monteiro A. Functional analysis and fine mapping of the 9p22.2 ovarian cancer susceptibility locus. Cancer Research 2019, 79: canres.3864.2017. PMID: 30487138, PMCID: PMC6359979, DOI: 10.1158/0008-5472.can-17-3864.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceCarcinoma, Ovarian EpithelialCell Cycle ProteinsCell Line, TumorChromosome MappingChromosomes, Human, Pair 9Cystadenocarcinoma, SerousDNA, NeoplasmDNA-Binding ProteinsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHEK293 CellsHumansLinkage DisequilibriumOvarian NeoplasmsPolymorphism, Single NucleotideConceptsScaffold/matrix attachment regionsMatrix attachment regionsTarget genesAttachment regionsOvarian cancer susceptibility lociGenome-wide association studiesCancer risk lociLikely target genesTranscriptional regulatory elementsAllele-specific effectsDownstream target genesLikely causal variantsCancer susceptibility lociCandidate causal SNPsFine mappingRegulatory elementsLoci identifiesCausal variantsRisk lociCausal SNPsFunctional analysisAssociation studiesCancer risk genesSusceptibility lociRisk genes
2015
Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC)
Jim HS, Lin HY, Tyrer JP, Lawrenson K, Dennis J, Chornokur G, Chen Z, Chen AY, Permuth-Wey J, Aben KK, Anton-Culver H, Antonenkova N, Bruinsma F, Bandera EV, Bean YT, Beckmann MW, Bisogna M, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bunker CH, Butzow R, Campbell IG, Carty K, Chang-Claude J, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, du Bois A, Despierre E, Sieh W, Doherty JA, Dörk T, Dürst M, Easton DF, Eccles DM, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harter P, Hasmad HN, Hein A, Heitz F, Hildebrandt MA, Hillemanns P, Hogdall CK, Hogdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji BT, Karlan BY, Kellar M, Kiemeney LA, Krakstad C, Kjaer SK, Kupryjanczyk J, Vierkant RA, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lim BK, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Milne RL, Modugno F, Thomsen L, Moysich KB, Ness RB, Nevanlinna H, Eilber U, Odunsi K, Olson SH, Orlow I, Orsulic S, Palmieri Weber R, Paul J, Pearce CL, Pejovic T, Pelttari LM, Pike MC, Poole EM, Schernhammer E, Risch HA, Rosen B, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Song H, Southey MC, Spiewankiewicz B, Sucheston-Campbell L, Teo SH, Terry KL, Thompson PJ, Tangen IL, Tworoger SS, van Altena AM, Vergote I, Walsh CS, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wicklund KG, Wilkens LR, Wu AH, Wu X, Woo YL, Yang H, Zheng W, Ziogas A, Amankwah E, Berchuck A, , Schildkraut JM, Kelemen LE, Ramus SJ, Monteiro AN, Goode EL, Narod SA, Gayther SA, Pharoah PD, Sellers TA, Phelan CM. Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC). Journal Of Genetics And Genome Research 2015, 2: 017. PMID: 26807442, PMCID: PMC4722961, DOI: 10.23937/2378-3648/1410017.Peer-Reviewed Original ResearchSingle nucleotide polymorphismsCircadian genesGenetic variationDownstream transcription factorsCircadian gene expressionCommon genetic variationGenotyped single nucleotide polymorphismsCircadian rhythm genesOvarian surface epithelial cellsAlternative splicingTranscription factorsGene expressionFunctional analysisHormonal pathwaysOvarian Cancer Association ConsortiumRhythm genesGenesGenotype dataNucleotide polymorphismsSurface epithelial cellsEpithelial cellsEnvironmental factorsGranulosa cellsOvarian cancerEpithelial ovarian cancer