Evaluation and Integration of Genetic Signature for Prediction Risk of Nasopharyngeal Carcinoma in Southern China

Abstract EN

Genetic factors, as well as environmental factors, play a role in development of nasopharyngeal carcinoma (NPC).

A number of single nucleotide polymorphisms (SNPs) have been reported to be associated with NPC.

To confirm these genetic associations with NPC, two independent case-control studies from Southern China comprising 1166 NPC cases and 2340 controls were conducted.

Seven SNPs in ITGA9 at 3p21.3 and 9 SNPs within the 6p21.3 HLA region were genotyped.

To explore the potential clinical application of these genetic markers in NPC, we further evaluate the predictive/diagnostic role of significant SNPs by calculating the area under the curve (AUC).

Results.

The reported associations between ITGA9 variants and NPC were not replicated.

Multiple loci of GABBR1, HLA-F, HLA-A, and HCG9 were statistically significant in both cohorts (Pcombined range from 5.96 × 10−17 to 0.02).

We show for the first time that these factors influence NPC development independent of environmental risk factors.

This study also indicated that the SNP alone cannot serve as a predictive/diagnostic marker for NPC.

Integrating the most significant SNP with IgA antibodies status to EBV, which is presently used as screening/diagnostic marker for NPC in Chinese populations, did not improve the AUC estimate for diagnosis of NPC.