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Identification of Recessively Inherited Genetic Variants Potentially Linked to 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_____%2F21%3A00560977" target="_blank" >RIV/68378041:_____/21:00560977 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216224:14110/21:00124364 RIV/00216208:11140/21:10435477 RIV/00216208:11120/21:43922687 RIV/00216208:11110/21:10435477 and 4 more

  • Result on the web

    <a href="https://www.frontiersin.org/articles/10.3389/fonc.2021.771312/full" target="_blank" >https://www.frontiersin.org/articles/10.3389/fonc.2021.771312/full</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.3389/fonc.2021.771312" target="_blank" >10.3389/fonc.2021.771312</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk

  • Original language description

    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(-5)) compared with the additive effects (p>10(-3)), although none of the six SNPs reached the conventional threshold for genome-wide significance (p < 5x10(-8)). Additional bioinformatic analysis explored the functional annotations of the SNPs and indicated a possible relationship between rs36018702 and expression of the BCL2L11 and BUB1 genes, which are known to be involved in pancreatic biology. Our findings, while not conclusive, indicate the importance of considering non-additive genetic models when performing GWAS analysis. The SNPs associated with pancreatic cancer in this study could be used for further meta-analysis for recessive association of SNPs and pancreatic cancer risk and might be a useful addiction to improve the performance of polygenic risk scores.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    10608 - Biochemistry and molecular biology

Result continuities

  • Project

    <a href="/en/project/NV19-03-00097" target="_blank" >NV19-03-00097: The analysis of unique rare entities of pancreatic ductal adenocarcinoma</a><br>

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2021

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Frontiers in Oncology

  • ISSN

    2234-943X

  • e-ISSN

    2234-943X

  • Volume of the periodical

    11

  • Issue of the periodical within the volume

    dec

  • Country of publishing house

    CH - SWITZERLAND

  • Number of pages

    10

  • Pages from-to

    771312

  • UT code for WoS article

    000761072100001

  • EID of the result in the Scopus database

    2-s2.0-85121395745