Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk.
genetic polymorphisms
genome-wide association study
pancreatic cancer
recessive model
susceptibility
Journal
Frontiers in oncology
ISSN: 2234-943X
Titre abrégé: Front Oncol
Pays: Switzerland
ID NLM: 101568867
Informations de publication
Date de publication:
2021
2021
Historique:
received:
06
09
2021
accepted:
16
11
2021
entrez:
20
12
2021
pubmed:
21
12
2021
medline:
21
12
2021
Statut:
epublish
Résumé
Although 21 pancreatic cancer susceptibility loci have been identified in individuals of European ancestry through genome-wide association studies (GWASs), much of the heritability of pancreatic cancer risk remains unidentified. A recessive genetic model could be a powerful tool for identifying additional risk variants. To discover recessively inherited pancreatic cancer risk loci, we performed a re-analysis of the largest pancreatic cancer GWAS, the Pancreatic Cancer Cohort Consortium (PanScan) and the Pancreatic Cancer Case-Control Consortium (PanC4), including 8,769 cases and 7,055 controls of European ancestry. Six single nucleotide polymorphisms (SNPs) showed associations with pancreatic cancer risk according to a recessive model of inheritance. We replicated these variants in 3,212 cases and 3,470 controls collected from the PANcreatic Disease ReseArch (PANDoRA) consortium. The results of the meta-analyses confirmed that rs4626538 (7q32.2), rs7008921 (8p23.2) and rs147904962 (17q21.31) showed specific recessive effects (p<10
Identifiants
pubmed: 34926279
doi: 10.3389/fonc.2021.771312
pmc: PMC8678088
doi:
Types de publication
Journal Article
Langues
eng
Pagination
771312Informations de copyright
Copyright © 2021 Lu, Gentiluomo, Macauda, Gioffreda, Gazouli, Petrone, Kelemen, Ginocchi, Morelli, Papiris, Greenhalf, Izbicki, Kiudelis, Mohelníková-Duchoňová, Bueno-de-Mesquita, Vodicka, Brenner, Diener, Pezzilli, Ivanauskas, Salvia, Szentesi, Aoki, Németh, Sperti, Jamroziak, Chammas, Oliverius, Archibugi, Ermini, Novák, Kupcinskas, Strouhal, Souček, Cavestro, Milanetto, Vanella, Neoptolemos, Theodoropoulos, van Laarhoven, Mambrini, Moz, Kala, Loveček, Basso, Uzunoglu, Hackert, Testoni, Hlaváč, Andriulli, Lucchesi, Tavano, Carrara, Hegyi, Arcidiacono, Busch, Lawlor, Puzzono, Boggi, Guo, Małecka-Panas, Capurso, Landi, Talar-Wojnarowska, Strobel, Gao, Vashist, Campa and Canzian.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
PLoS Comput Biol. 2015 Apr 17;11(4):e1004219
pubmed: 25885710
Int J Cancer. 2020 Oct 15;147(8):2065-2074
pubmed: 32270874
Nat Commun. 2020 Jul 3;11(1):3353
pubmed: 32620889
Nat Genet. 2010 Mar;42(3):224-8
pubmed: 20101243
Int J Mol Med. 2004 Nov;14(5):943-7
pubmed: 15492870
Cancer Epidemiol Biomarkers Prev. 2019 Jul;28(7):1238-1245
pubmed: 31015203
Cancer Res. 2014 Jun 1;74(11):2913-21
pubmed: 24840647
Nat Commun. 2017 Nov 28;8(1):1826
pubmed: 29184056
Public Health Nutr. 2002 Dec;5(6B):1113-24
pubmed: 12639222
J Lipid Res. 2018 Oct;59(10):1951-1966
pubmed: 30108155
Nat Genet. 2017 Dec;49(12):1752-1757
pubmed: 29083406
Eur J Cancer. 2008 Jul;44(10):1345-89
pubmed: 18280139
Nat Protoc. 2011 Feb;6(2):121-33
pubmed: 21293453
Nat Rev Cancer. 2017 Nov;17(11):692-704
pubmed: 29026206
Nat Rev Genet. 2018 Sep;19(9):581-590
pubmed: 29789686
BMC Genet. 2017 Mar 10;18(1):24
pubmed: 28283021
Nat Genet. 2014 Sep;46(9):994-1000
pubmed: 25086665
Nucleic Acids Res. 2021 Jan 8;49(D1):D1311-D1320
pubmed: 33045747
Nat Genet. 2016 Oct;48(10):1279-83
pubmed: 27548312
Oncotarget. 2016 Oct 11;7(41):66328-66343
pubmed: 27579533
Gene. 2019 Jun 15;701:15-22
pubmed: 30898709
Annu Rev Psychol. 2009;60:549-76
pubmed: 18652544
Nucleic Acids Res. 2020 Jul 2;48(W1):W185-W192
pubmed: 32496546
Nucleic Acids Res. 2016 Jan 4;44(D1):D877-81
pubmed: 26657631
Nat Commun. 2018 Feb 8;9(1):556
pubmed: 29422604
Am J Med Genet B Neuropsychiatr Genet. 2014 Mar;165B(2):157-66
pubmed: 24482242
Eur J Cancer. 2018 Nov;103:356-387
pubmed: 30100160
J Med Genet. 2021 Jun;58(6):369-377
pubmed: 32591343
Nat Genet. 2016 Oct;48(10):1284-1287
pubmed: 27571263
Cancer Lett. 2016 Oct 10;381(1):269-77
pubmed: 27461582
Nucleic Acids Res. 2021 Jan 8;49(D1):D38-D46
pubmed: 33245777
J Clin Invest. 2009 Dec;119(12):3830-8
pubmed: 19907080
Nucleic Acids Res. 2019 Jul 2;47(W1):W556-W560
pubmed: 31114875
Brain Behav. 2019 Jun;9(6):e01292
pubmed: 31033230
Sci Rep. 2019 Nov 14;9(1):16774
pubmed: 31727956
Nat Genet. 2015 Aug;47(8):911-6
pubmed: 26098869
Nat Genet. 2009 Sep;41(9):986-90
pubmed: 19648918
Lancet Oncol. 2019 Nov;20(11):1493-1505
pubmed: 31521509
Dig Liver Dis. 2013 Feb;45(2):95-9
pubmed: 23206934
Genome Res. 2012 Sep;22(9):1790-7
pubmed: 22955989
Nat Genet. 2013 Jun;45(6):580-5
pubmed: 23715323
PLoS One. 2013 Sep 13;8(9):e72311
pubmed: 24058443
Eur J Med Genet. 2012 Oct;55(10):510-4
pubmed: 22750566
Am J Hum Genet. 2007 Sep;81(3):559-75
pubmed: 17701901
Biochim Biophys Acta. 2001 Jan 26;1517(2):327-31
pubmed: 11342119
Semin Cancer Biol. 2022 Feb;79:105-131
pubmed: 32818625
Diabetologia. 2018 Sep;61(9):2005-2015
pubmed: 29926116
CA Cancer J Clin. 2018 Nov;68(6):394-424
pubmed: 30207593
Carcinogenesis. 2012 Jul;33(7):1384-90
pubmed: 22523087
Cancer Epidemiol Biomarkers Prev. 2020 May;29(5):999-1008
pubmed: 32321713