Functional PIN1 promoter polymorphisms associated with risk of nasopharyngeal carcinoma in Southern Chinese populations.

ABSTRACT: 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.

SUBMITTER: Zeng L 

PROVIDER: S-EPMC5496913 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature