Association of SMAD4 Gene Polymorphisms with Human Papillomavirus Infection and Risk of Cervical Cancer: A Case-Control Study

Objective To investigate the association between SMAD4 gene single nucleotide polymorphisms (SNPs) and the risk of human papillomavirus (HPV) infection and cervical cancer. Methods A case-control study was conducted, enrolling 342 cervical cancer patients as the case group and 342 healthy individuals from concurrent physical examinations as the control group. Genotyping of SMAD4 SNP loci rs34468925 and rs8084630 was performed using the imLDR SNP genotyping technique. HPV detection in the case group was performed via PCR-reverse dot hybridization. Statistical analysis and the online SHEsis software were employed to comprehensively evaluate the association between the rs34468925 and rs8084630 SNP loci, their haplotypes, and the risk of HPV infection and cervical cancer. Results No significant association was observed between the genotypes, alleles, genetic models (dominant and recessive), or haplotypes of the SMAD4 gene SNPs rs34468925 and rs8084630 and HPV infection risk in either group (P > 0.05). rs8084630 showed no association with cervical cancer risk (P > 0.05). However, the TT genotype, T allele, and recessive genetic model of rs34468925 may be associated with cervical cancer risk (P < 0.05). Additionally, the rs34468925 CT genotype may be associated with clinical pathological characteristics (tumor classification, distant metastasis) in cervical cancer patients (P < 0.05). Conclusion The SMAD4 gene SNP site rs34468925 shows no significant association with HPV infection but may be associated with cervical cancer risk and clinical pathological characteristics.