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

Liuyan Zeng, Shengqun Luo, Xin Li, Mengxuan Lu, Huahui Li, Tong Li, Guanhua Wang, Xiaoming Lyu, Wenrui Jia, Zigang Dong, Qiang Jiang, Zhihua Shen, Guo Liang Huang, Zhiwei He

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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.

Original languageEnglish (US)
Article number4593
JournalScientific reports
Volume7
Issue number1
DOIs
StatePublished - Dec 1 2017

Bibliographical note

Funding Information:
This work was supported by National Natural Science Foundation of China (No: 81372137, 30973374 and 81402415)

Publisher Copyright:
© 2017 The Author(s).

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