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Genome-wide association study identifies an early onset pancreatic cancer risk locus

Identifikátory výsledku

  • Kód výsledku v IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378041%3A_____%2F20%3A00538992" target="_blank" >RIV/68378041:_____/20:00538992 - isvavai.cz</a>

  • Nalezeny alternativní kódy

    RIV/00216208:11110/20:10411103 RIV/00216208:11120/20:43920054 RIV/00216208:11140/20:10411103 RIV/75010330:_____/20:00013326 RIV/00064173:_____/20:N0000195

  • Výsledek na webu

    <a href="https://onlinelibrary.wiley.com/doi/10.1002/ijc.33004" target="_blank" >https://onlinelibrary.wiley.com/doi/10.1002/ijc.33004</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1002/ijc.33004" target="_blank" >10.1002/ijc.33004</a>

Alternativní jazyky

  • Jazyk výsledku

    angličtina

  • Název v původním jazyce

    Genome-wide association study identifies an early onset pancreatic cancer risk locus

  • Popis výsledku v původním jazyce

    Early onset pancreatic cancer (EOPC) is a rare disease with a very high mortality rate. Almost nothing is known on the genetic susceptibility of EOPC, therefore, we performed a genome-wide association study (GWAS) to identify novel genetic variants specific for patients diagnosed with pancreatic ductal adenocarcinoma (PDAC) at younger ages. In the first phase, conducted on 821 cases with age of onset <= 60 years, of whom 198 with age of onset <= 50, and 3227 controls from PanScan I-II, we observed four SNPs (rs7155613, rs2328991, rs4891017 and rs12610094) showing an association with EOPC risk (P < 1 x 10(-4)). We replicated these SNPs in the PANcreatic Disease ReseArch (PANDoRA) consortium and used additional in silico data from PanScan III and PanC4. Among these four variants rs2328991 was significant in an independent set of 855 cases with age of onset <= 60 years, of whom 265 with age of onset <= 50, and 4142 controls from the PANDoRA consortium while in the in silico data, we observed no statistically significant association. However, the resulting meta-analysis supported the association (P = 1.15 x 10(-4)). In conclusion, we propose a novel variant rs2328991 to be involved in EOPC risk. Even though it was not possible to find a mechanistic link between the variant and the function, the association is supported by a solid statistical significance obtained in the largest study on EOPC genetics present so far in the literature.

  • Název v anglickém jazyce

    Genome-wide association study identifies an early onset pancreatic cancer risk locus

  • Popis výsledku anglicky

    Early onset pancreatic cancer (EOPC) is a rare disease with a very high mortality rate. Almost nothing is known on the genetic susceptibility of EOPC, therefore, we performed a genome-wide association study (GWAS) to identify novel genetic variants specific for patients diagnosed with pancreatic ductal adenocarcinoma (PDAC) at younger ages. In the first phase, conducted on 821 cases with age of onset <= 60 years, of whom 198 with age of onset <= 50, and 3227 controls from PanScan I-II, we observed four SNPs (rs7155613, rs2328991, rs4891017 and rs12610094) showing an association with EOPC risk (P < 1 x 10(-4)). We replicated these SNPs in the PANcreatic Disease ReseArch (PANDoRA) consortium and used additional in silico data from PanScan III and PanC4. Among these four variants rs2328991 was significant in an independent set of 855 cases with age of onset <= 60 years, of whom 265 with age of onset <= 50, and 4142 controls from the PANDoRA consortium while in the in silico data, we observed no statistically significant association. However, the resulting meta-analysis supported the association (P = 1.15 x 10(-4)). In conclusion, we propose a novel variant rs2328991 to be involved in EOPC risk. Even though it was not possible to find a mechanistic link between the variant and the function, the association is supported by a solid statistical significance obtained in the largest study on EOPC genetics present so far in the literature.

Klasifikace

  • Druh

    J<sub>imp</sub> - Článek v periodiku v databázi Web of Science

  • CEP obor

  • OECD FORD obor

    30302 - Epidemiology

Návaznosti výsledku

  • Projekt

    <a href="/cs/project/NV19-03-00097" target="_blank" >NV19-03-00097: Studium specifických podskupin u pacientů s adenokarcinomem pankreatu</a><br>

  • Návaznosti

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Ostatní

  • Rok uplatnění

    2020

  • Kód důvěrnosti údajů

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

Údaje specifické pro druh výsledku

  • Název periodika

    International Journal of Cancer

  • ISSN

    0020-7136

  • e-ISSN

  • Svazek periodika

    147

  • Číslo periodika v rámci svazku

    8

  • Stát vydavatele periodika

    DE - Spolková republika Německo

  • Počet stran výsledku

    10

  • Strana od-do

    2065-2074

  • Kód UT WoS článku

    000529605800001

  • EID výsledku v databázi Scopus

    2-s2.0-85084206474