Our previous work reported the association between two single nucleotide polymorphisms (SNPs) in PIN1 promoter and nasopharyngeal carcinoma (NPC) risk with a small sample size in a low incidence area. This study investigated the association between the two SNPs and NPC risk in 733 patients and 895 controls from a high incidence area. The results indicated the genotype and allele frequencies of-842G > C and-667C > T were both significantly different between patients and controls even using the resampling statistics. The-842GC and-667TT genotypes showed a significantly increased risk of NPC (OR = 1.977, 95% CI = 1.339-2.919, P = 0.001 and OR = 1.438, 95% CI = 1.061-1.922, P = 0.019, respectively). Compared to the most common-842G-667C haplotype,-842G-667T haplotype and-842C-667C haplotype showed a significantly increased risk of NPC (OR = 1.215, 95% CI = 1.053-1.402, P = 0.008 and OR = 2.268, 95% CI = 1.530-3.362, P = 0.001, respectively). Further reporter gene expression suggested that variant-842C-667C and-842G-667T were associated with an enhanced transcriptional activity. In conclusion, our findings suggest that-842G > C and-667C > T in PIN1 promoter are associated with NPC risk; as well as the promoter activity is mediated by functional PIN1 variants.
Bibliographical noteFunding Information:
This work was supported by National Natural Science Foundation of China (No: 81372137, 30973374 and 81402415)