A polymorphism in the 3' untranslated region of Hypoxia-Inducible Factor-1 alpha confers an increased risk of cervical cancer in a Chinese population.

Cervical cancer is a multifactorial disease involving a complex interplay between genetic and environmental factors. An important role of HIF-1α in cervical cancer carcinogenesis has been studied by multiple researches. We hypothesized that there is a possible association between HIF-1α gene polymorphisms and the risk of cervical cancer in Chinese women. In a case-control study of 518 cervical cancer patients and 553 cancer-free controls, we genotyped three single-nucleotide polymorphisms (SNPs) (rs11549465, rs11549467 and rs2057482) of HIF-1α using the TaqMan SNP Genotyping Assays and assessed its associations with the cervical cancer risk. Besides, 17 cervical cancer tissues were used to assess the expression of the mature mRNA expression of HIF-1α by real-time quantitative reverse transcription PCR. We found that a significantly increased risk of cervical cancer was associated with the CC genotype of rs2057482 in the 3´-untranslated region (3'-UTR) of HIF-1α (odds ratio (OR), 1.44; 95% confidence interval (CI), 1.11-1.88), compared with the CT/TT genotypes. Moreover, the carriers of CT/TT genotypes had significantly decreased HIF-1α mRNA expression levels compared to those with CC genotype. No association was observed between the two polymorphisms (rs11549465, rs11549467) and cervical cancer risk. So that, our results provided the first insight into rs2057482 polymorphism of in the 3´-untranslated region of HIF-1α contributed to the risk of cervical cancer in a Chinese population and thus may serve as a reliable predictive factor of cervical cancer.