Association between a polymorphic variant in the CDKN2B-AS1/ANRIL gene and pancreatic cancer risk
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378041%3A_____%2F23%3A00580704" target="_blank" >RIV/68378041:_____/23:00580704 - isvavai.cz</a>
Alternative codes found
RIV/00098892:_____/23:10157303 RIV/75010330:_____/23:00014468 RIV/00216208:11140/23:10453381 RIV/00216208:11110/23:10453381 RIV/61989592:15110/23:73614836
Result on the web
<a href="https://onlinelibrary.wiley.com/doi/10.1002/ijc.34383" target="_blank" >https://onlinelibrary.wiley.com/doi/10.1002/ijc.34383</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/ijc.34383" target="_blank" >10.1002/ijc.34383</a>
Alternative languages
Result language
angličtina
Original language name
Association between a polymorphic variant in the CDKN2B-AS1/ANRIL gene and pancreatic cancer risk
Original language description
Genes carrying high-penetrance germline mutations may also be associated with cancer susceptibility through common low-penetrance genetic variants. To increase the knowledge on genetic pancreatic ductal adenocarcinoma (PDAC) aetiology, the common genetic variability of PDAC familial genes was analysed in our study. We conducted a multiphase study analysing 7745 single nucleotide polymorphisms (SNPs) from 29 genes reported to harbour a high-penetrance PDAC-associated mutation in at least one published study. To assess the effect of the SNPs on PDAC risk, a total of 14 666 PDAC cases and 221 897 controls across five different studies were analysed. The T allele of the rs1412832 polymorphism, that is situated in the CDKN2B-AS1/ANRIL, showed a genome-wide significant association with increased risk of developing PDAC (OR = 1.11, 95% CI = 1.07-1.15, P = 5.25 x 10(-9)). CDKN2B-AS1/ANRIL is a long noncoding RNA, situated in 9p21.3, and regulates many target genes, among which CDKN2A (p16) that frequently shows deleterious somatic and germline mutations and deregulation in PDAC. Our results strongly support the role of the genetic variability of the 9p21.3 region in PDAC aetiopathogenesis and highlight the importance of secondary analysis as a tool for discovering new risk loci in complex human diseases.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30101 - Human genetics
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
International Journal of Cancer
ISSN
0020-7136
e-ISSN
1097-0215
Volume of the periodical
153
Issue of the periodical within the volume
2
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
373-379
UT code for WoS article
000900470100001
EID of the result in the Scopus database
2-s2.0-85144134666