A polygenic risk score for nasopharyngeal carcinoma shows potential for risk stratification and personalized screening.
case_control · Level III
Where this comes from
- Record sourced from PubMed, PMID 35414057.
- Also identified by DOI 10.1038/s41467-022-29570-4 and PMC identifier 9005522.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Polygenic risk scores (PRS) have the potential to identify individuals at risk of diseases, optimizing treatment, and predicting survival outcomes. Here, we construct and validate a genome-wide association study (GWAS) derived PRS for nasopharyngeal carcinoma (NPC), using a multi-center study of six populations (6 059 NPC cases and 7 582 controls), and evaluate its utility in a nested case-control study. We show that the PRS enables effective identification of NPC high-risk individuals (AUC = 0.65) and improves the risk prediction with the PRS incremental deciles in each population (P<sub>trend</sub> ranging from 2.79 × 10<sup>-7</sup> to 4.79 × 10<sup>-44</sup>). By incorporating the PRS into EBV-serology-based NPC screening, the test's positive predictive value (PPV) is increased from an average of 4.84% to 8.38% and 11.91% in the top 10% and 5% PRS, respectively. In summary, the GWAS-derived PRS, together with the EBV test, significantly improves NPC risk stratification and informs personalized screening.
Medical subject headings
- Genome-Wide Association Study
- Nasopharyngeal Neoplasms