Polygenic and multifactorial scores for pancreatic ductal adenocarcinoma risk prediction
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378041%3A_____%2F21%3A00552826" target="_blank" >RIV/68378041:_____/21:00552826 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11140/21:10421280 RIV/00216208:11110/21:10421280 RIV/61989592:15110/21:73602827
Result on the web
<a href="https://jmg.bmj.com/content/58/6/369" target="_blank" >https://jmg.bmj.com/content/58/6/369</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1136/jmedgenet-2020-106961" target="_blank" >10.1136/jmedgenet-2020-106961</a>
Alternative languages
Result language
angličtina
Original language name
Polygenic and multifactorial scores for pancreatic ductal adenocarcinoma risk prediction
Original language description
BackgroundnMost cases of pancreatic ductal adenocarcinoma (PDAC) are asymptomatic in early stages, and the disease is typically diagnosed in advanced phases, resulting in very high mortality. Tools to identify individuals at high risk of developing PDAC would be useful to improve chances of early detection.nObjectivenWe generated a polygenic risk score (PRS) for PDAC risk prediction, combining the effect of known risk SNPs, and carried out an exploratory analysis of a multifactorial score.nMethodsnWe tested the associations of the individual known risk SNPs on up to 2851 PDAC cases and 4810 controls of European origin from the PANcreatic Disease ReseArch (PANDoRA) consortium. Thirty risk SNPs were included in a PRS, which was computed on the subset of subjects that had 100% call rate, consisting of 839 cases and 2040 controls in PANDoRA and 6420 cases and 4889 controls from the previously published Pancreatic Cancer Cohort Consortium I-III and Pancreatic Cancer Case-Control Consortium genome-wide association studies. Additional exploratory multifactorial scores were constructed by complementing the genetic score with smoking and diabetes.nResultsnThe scores were associated with increased PDAC risk and reached high statistical significance (OR=2.70, 95% CI 1.99 to 3.68, p=2.54x10(-10) highest vs lowest quintile of the weighted PRS, and OR=14.37, 95% CI 5.57 to 37.09, p=3.64x10(-8), highest vs lowest quintile of the weighted multifactorial score).nConclusionnWe found a highly significant association between a PRS and PDAC risk, which explains more than individual SNPs and is a step forward in the direction of the construction of a tool for risk stratification in the population.
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
10603 - Genetics and heredity (medical genetics to be 3)
Result continuities
Project
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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
Journal of Medical Genetics
ISSN
0022-2593
e-ISSN
1468-6244
Volume of the periodical
58
Issue of the periodical within the volume
6
Country of publishing house
GB - UNITED KINGDOM
Number of pages
9
Pages from-to
369-377
UT code for WoS article
000654442100003
EID of the result in the Scopus database
2-s2.0-85092010656