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%2F61989592%3A15110%2F20%3A73602799" target="_blank" >RIV/61989592:15110/20:73602799 - isvavai.cz</a>
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>ost</sub> - Ostatní články v recenzovaných periodicích
CEP obor
—
OECD FORD obor
30204 - Oncology
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
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
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 (online)
ISSN
1097-0215
e-ISSN
—
Svazek periodika
147
Číslo periodika v rámci svazku
8
Stát vydavatele periodika
US - Spojené státy americké
Počet stran výsledku
10
Strana od-do
2065-2074
Kód UT WoS článku
000529605800001
EID výsledku v databázi Scopus
2-s2.0-85084206474