Abstract
BackgroundThe p21 codon 31 single nucleotide polymorphism (SNP), rs1801270, has been linked to cervical cancer but with controversial results. The aims of this study were to investigate the role of p21 SNP-rs1801270 and other untested p21 SNPs in the risk of cervical cancer in a Chinese population.MethodsWe genotyped five p21 SNPs (rs762623, rs2395655, rs1801270, rs3176352, and rs1059234) using peripheral blood DNA from 393 cervical cancer patients and 434 controls.ResultsThe frequency of the rs1801270 A allele in patients (0.421) was significantly lower than that in controls (0.494, p = 0.003). The frequency of the rs3176352 C allele in cases (0.319) was significantly lower than that in controls (0.417, p < 0.001).The allele frequency of other three p21 SNPs showed not statistically significantly different between patients and controls. The rs1801270 AA genotype was associated with a decreased risk for the development of cervical cancer (OR = 0.583, 95%CI: 0.399 - 0.853, P = 0.005). We observed that the three p21 SNPs (rs1801270, rs3176352, and rs1059234) was in linkage disequilibrium (LD) and thus haplotype analysis was performed. The AGT haplotype (which includes the rs1801270A allele) was the most frequent haplotype among all subjects, and both homozygosity and heterozygosity for the AGT haplotype provided a protective effect from development of cervical cancer.ConclusionsWe show an association between the p21 SNP rs1801270A allele and a decreased risk for cervical cancer in a population of Chinese women. The AGT haplotype formed by three p21 SNPs in LD (rs1801270, rs3176352 and rs1059234) also provided a protective effect in development of cervical cancer in this population.
Highlights
The p21 codon 31 single nucleotide polymorphism (SNP), rs1801270, has been linked to cervical cancer but with controversial results
The human papilloma virus (HPV) E6 and E7 proteins are viral genes expressed in virtually all HPV-positive cervical carcinomas, and many experiments have shown that these are cooperative viral oncoproteins [4] that inactivate p53 and retinoblastoma tumor suppressors, promoting carcinogenesis [4,5]
The p21 single nucleotide polymorphism (SNP) rs1801270C/A, which occurs in codon 31, results in an amino acid substitution of arginine for serine
Summary
The p21 codon 31 single nucleotide polymorphism (SNP), rs1801270, has been linked to cervical cancer but with controversial results. The aims of this study were to investigate the role of p21 SNP-rs1801270 and other untested p21 SNPs in the risk of cervical cancer in a Chinese population. The p21 single nucleotide polymorphism (SNP) rs1801270C/A, which occurs in codon 31, results in an amino acid substitution of arginine for serine. This polymorphism is located in a highly conserved region of p21 and is expected to affect its molecular function [18]. Prior studies have linked the p21 codon 31 SNP (rs1801270) to cervical cancer, with conflicting results [19,20]. We genotyped five p21 SNPs (rs1801270 at codon 31, rs762623 and rs2395655 in the promoter region, rs3176352 in an intron, and rs1059234 in the 3’ noncoding region) in 393 cervical cancer patients and 434 cancer-free controls to look for any associations between SNP alleles or genotypes and cervical cancer in a Chinese population
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