An evaluation study of reported pancreatic adenocarcinoma risk-associated SNPs from genome-wide association studies in Chinese population.

Background: Previous genome-wide association studies (GWAS), and a pathway study of pancreatic ductal adenocarcinoma (PDAC) identified 14 significantly associated single nucleotide polymorphisms (SNPs) along with another 7 promising loci in European, Japanese, and Chinese descents. In this study, we aimed to evaluate the potential association of these SNPs with PDAC risk in the Chinese population.

Methods: In this Chinese population-based case-control study with 254 cases and 1200 controls, we tested 20 PDAC risk associated SNPs from previous GWAS and one SNP from a pathway-based study.

Results: All 21 SNPs were polymorphic in the Chinese population. Twenty SNPs were included in the final analysis after the quality check (QC). Among these SNPs, three were significantly associated with PDAC risk after Bonferroni correction (P < 2.5E-03) including rs7779540 (at 7q36.2, P = 3.89E-06, OR = 2.59, 95%CI: 1.73-3.87), rs10919791 (at 1q32.1, P = 6.07E-05, OR = 1.52, 95%CI: 1.24-1.86) and rs401681 (at 5p15.33, P = 5.15E-04, OR = 1.42, 95%CI: 1.17-1.73). Rs2255280 (at 5p13.1, P = 8.16E-03, OR = 1.31, 95%CI: 1.07-1.6) showed significant association at the p < 0.05 level. The directions of effect of these SNPs were consistent with previous studies.

Conclusion: Four PDAC risk-associated SNPs identified in GWAS of various populations are associated with PDAC risk in the Chinese population. Information on PDAC risk-associated SNPs and their ORs may facilitate risk assessment of PDAC risk in the Chinese population.