Published online Jun 14, 2020. doi: 10.3748/wjg.v26.i22.3076
Peer-review started: December 30, 2019
First decision: January 11, 2020
Revised: April 29, 2020
Accepted: May 13, 2020
Article in press: May 13, 2020
Published online: June 14, 2020
Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal malignancies worldwide. Lacking effective methods for screening, the early diagnosis of PDAC remains challenging leading to an extremely poor prognosis of PDAC.
Single nucleotide polymorphisms based genetic risk score (GRS) has been proven to provide independent inherited risk information in other cancers. GRS may be a promising way to select a high risk PDAC population for further screening.
We constructed a GRS based on 18 PDAC related single nucleotide polymorphisms, and we evaluated the effectiveness of GRS in the prediction of PDAC risk.
We used personal genotyping data to calculate individual GRS. GRS was also weighted by population odds ratio. Final GRS was evaluated for the prediction of PDAC risk in the general Chinese population.
GRS was significantly associated with PDAC risk after being adjusted for age and sex (odds ratio = 1.36, 95% confidence interval: 1.06-1.74, P = 0.015). Higher GRS indicated a higher risk for PDAC (odds ratio = 2.29, 95% confidence interval: 1.25-4.21, P = 0.007, highest decile vs lowest decile). The area under the curve for GRS for PDAC risk was 0.5675.
GRS was an independent predictor of PDAC. As reflecting inherited risks, patients with higher GRS would have higher risks of PDAC in the study population.
GRS could provide independent risk information for PDAC. Further cohort study with a larger sample size may focus on the optimal PDAC risk prediction model built with both GRS and nongenetic factors.