A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer.
genetics
pancreatic cancer
pancreatic enzymes
polymorphic variation
splicing QTL
Journal
American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475
Informations de publication
Date de publication:
07 10 2021
07 10 2021
Historique:
received:
01
10
2020
accepted:
01
09
2021
pubmed:
25
9
2021
medline:
16
11
2021
entrez:
24
9
2021
Statut:
ppublish
Résumé
Genome-wide association studies (GWASs) have discovered 20 risk loci in the human genome where germline variants associate with risk of pancreatic ductal adenocarcinoma (PDAC) in populations of European ancestry. Here, we fine-mapped one such locus on chr16q23.1 (rs72802365, p = 2.51 × 10
Identifiants
pubmed: 34559995
pii: S0002-9297(21)00338-4
doi: 10.1016/j.ajhg.2021.09.002
pmc: PMC8546220
pii:
doi:
Substances chimiques
Chymotrypsin
EC 3.4.21.1
chymotrypsin B
EC 3.4.21.1
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1852-1865Subventions
Organisme : NCI NIH HHS
ID : P30 CA016087
Pays : United States
Organisme : NCI NIH HHS
ID : U10 CA037429
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA062924
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA102701
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA015083
Pays : United States
Organisme : NCI NIH HHS
ID : UM1 CA167552
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA154823
Pays : United States
Organisme : NCI NIH HHS
ID : UM1 CA182883
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA247283
Pays : United States
Organisme : NCI NIH HHS
ID : UM1 CA182910
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA097075
Pays : United States
Investigateurs
Demetrius Albanes
(D)
Alan A Arslan
(AA)
Aurelio Barricarte Gurrea
(AB)
Laura Beane-Freeman
(L)
Paige M Bracci
(PM)
Bas Bueno-de-Mesquita
(B)
Julie Buring
(J)
Federico Canzian
(F)
Stephen Gallinger
(S)
J Michael Gaziano
(JM)
Graham G Giles
(GG)
Phyllis J Goodman
(PJ)
Mattias Johansson
(M)
Charles Kooperberg
(C)
Loic LeMarchand
(L)
Nuria Malats
(N)
Rachel E Neale
(RE)
Salvatore Panico
(S)
Ulrike Peters
(U)
Francisco X Real
(FX)
Xiao-Ou Shu
(XO)
Malin Sund
(M)
Marc Thornquist
(M)
Anne Tjønneland
(A)
Ruth C Travis
(RC)
Stephen K Van Den Eeden
(SK)
Kala Visvanathan
(K)
Wei Zheng
(W)
Peter Kraft
(P)
Informations de copyright
Published by Elsevier Inc.
Déclaration de conflit d'intérêts
Declaration of interests The authors declare no competing interests.
Références
Epigenetics Chromatin. 2015 Dec 30;8:57
pubmed: 26719772
Nat Commun. 2018 Feb 8;9(1):556
pubmed: 29422604
Eur J Cancer. 2018 Nov;103:356-387
pubmed: 30100160
Methods Mol Biol. 2016;1418:391-416
pubmed: 27008025
CA Cancer J Clin. 2019 Jan;69(1):7-34
pubmed: 30620402
Nat Biotechnol. 2011 Jan;29(1):24-6
pubmed: 21221095
Bioinformatics. 2016 May 15;32(10):1479-85
pubmed: 26708335
Nat Commun. 2019 Jan 25;10(1):428
pubmed: 30683896
Hum Mol Genet. 2018 Nov 7;:
pubmed: 30407494
Nat Genet. 2014 Sep;46(9):994-1000
pubmed: 25086665
Somat Cell Mol Genet. 1984 Jul;10(4):377-83
pubmed: 6589791
Nat Genet. 2009 Jun;41(6):703-7
pubmed: 19430480
Oncotarget. 2016 Oct 11;7(41):66328-66343
pubmed: 27579533
JOP. 2016 Mar;17(2):144-148
pubmed: 29568247
J Natl Cancer Inst. 2013 Apr 17;105(8):573-9
pubmed: 23411593
Am J Pathol. 1998 Jul;153(1):263-9
pubmed: 9665487
Hum Mol Genet. 2016 Nov 1;25(21):4726-4738
pubmed: 28172817
Nat Genet. 2010 Mar;42(3):224-8
pubmed: 20101243
Proc Natl Acad Sci U S A. 2011 Feb 15;108(7):2759-64
pubmed: 21273506
Int J Biol Sci. 2016 Jan 28;12(3):314-25
pubmed: 26929738
Nat Commun. 2017 May 02;8:15034
pubmed: 28447668
PLoS Comput Biol. 2010 May 06;6(5):e1000770
pubmed: 20463871
PLoS Genet. 2014 May 15;10(5):e1004383
pubmed: 24830394
Bioinformatics. 2014 Feb 15;30(4):523-30
pubmed: 24336805
Hum Mutat. 2013 Feb;34(2):345-54
pubmed: 23086744
Nat Genet. 2015 Aug;47(8):911-6
pubmed: 26098869
Nat Genet. 2009 Sep;41(9):986-90
pubmed: 19648918
Genet Epidemiol. 2013 Dec;37(8):802-13
pubmed: 24227294
PLoS Genet. 2009 Jun;5(6):e1000529
pubmed: 19543373
Nucleic Acids Res. 2018 Jan 4;46(D1):D52-D57
pubmed: 29106613
Nat Genet. 2018 Jan;50(1):151-158
pubmed: 29229983
Cancer Res. 2014 Jun 1;74(11):2913-21
pubmed: 24840647
Biostatistics. 2009 Apr;10(2):327-34
pubmed: 19039033
Nature. 2017 Oct 11;550(7675):204-213
pubmed: 29022597
Ann Oncol. 2012 Nov;23(11):2964-2970
pubmed: 22767586
Best Pract Res Clin Gastroenterol. 2010 Jun;24(3):349-58
pubmed: 20510834
Am J Hum Genet. 2018 May 3;102(5):717-730
pubmed: 29727686
Ann Hum Genet. 2014 Jan;78(1):50-61
pubmed: 24205929
Curr Opin Gastroenterol. 2017 Sep;33(5):390-395
pubmed: 28650851
Dig Dis Sci. 2017 Jul;62(7):1692-1701
pubmed: 28536777
Bioinformatics. 2010 Jan 1;26(1):139-40
pubmed: 19910308
Nat Genet. 2013 Feb;45(2):164-71
pubmed: 23291588
Proc Natl Acad Sci U S A. 2005 Oct 25;102(43):15545-50
pubmed: 16199517
Bioinformatics. 2010 Sep 1;26(17):2190-1
pubmed: 20616382
Nat Genet. 2018 Nov;50(11):1505-1513
pubmed: 30297969
Gut. 2018 Oct;67(10):1855-1863
pubmed: 28754779
Hematol Oncol Clin North Am. 2015 Aug;29(4):619-40
pubmed: 26226901
Gene. 2015 May 10;562(1):1-7
pubmed: 25727852
Nat Genet. 2007 Jul;39(7):906-13
pubmed: 17572673
Diabetes Obes Metab. 2018 Sep;20 Suppl 2:88-94
pubmed: 30230178
Gut. 2018 Mar;67(3):521-533
pubmed: 28634199