Promoter Polymorphisms of ST3GAL4 and ST6GAL1 Genes and Associations with Risk of Premalignant and Malignant Lesions of the Cervix

Sialyltransferase gene expression is altered in several cancers, including examples in the cervix. Transcriptionalregulation of the responsible genes depends on different promoters. We aimed to determine the association ofsingle-nucleotide polymorphisms in the B3 promoter of the ST3GAL4 gene and the P1 promoter of the ST6GAL1gene with cervical premalignant lesions or cervical cancer. A blood sample and/or cervical scrapes were obtainedfrom 104 women with normal cytology, 154 with premalignant lesions and 100 with cervical cancer. We alsoincluded 119 blood samples of random donors. The polymorphisms were identified by sequencing from PCRproducts. For the B3 promoter, a fragment of 506 bp (from nucleotide -408 to +98) was analyzed, and for theP1 promoter a 490 bp (-326 to +164) fragment. The polymorphism analysis showed that at SNP rs10893506,genotypes CC and CT of the ST3GAL4 B3 promoter were associated with the presence of premalignant lesions(OR=2.89; 95%CI 1.72-4.85) and cervical cancer (OR=2.23; 95%CI 1.27-3.91). We detected only one allele ofeach polymorphism in the ST6GAL1 P1 promoter. We did not detect any genetic variability in the P1 promoterregion in our study population. Our results suggest that the rs10893506 polymorphism -22C/T may increasesusceptibility to premalignant and malignant lesions of the cervix