Genetic polymorphism in the second exon of HLA-DRB1 in cervical cancer

Abstract

OBJECTIVE The aim of this investigation was to assess the association between single nucleotide polymorphisms (SNPs) in HLA-DRB1 and the risk of developing cervical cancer. Our study focused on the second exon of the HLA-DRB1 alleles, which have most of the SNP sites on HLA-DRB1. METHODS We examined 30 cervical cancer patients and 66 control patients using the sequence-based typing polymerase chain reaction technique (PCR-SBT) to type 55 single nucleotide polymorphisms (SNPs) and haplotypes in the second exon of HLA-RB1. The Chi-square test and the Bonferroni correction method were utilized for the statistical analysis of the data. An association between the alleles and cervical cancer was examined by the linkage disequilibrium test and the odds ratio (OR). RESULTS Compared with the control group, among the 55 SNPs we studied in the second exon of HLA-DRB1, 4 showed an evident association with cervical cancer. Rs17880292 ( P = 0.033, OR = 0.322) and rs1059586 ( P = 0.029, OR = 2.657) had positive signifi cance for the risk of developing cervical cancer, while rs17879702 ( P = 0.016, OR = 0.222) and rs17882525 (P = 0.025, OR = 0.128) were negative. The difference in frequency of the 5582A-5592A-5667T haplotype between cervical cancer patients and the controls was signifi cant ( P = 0.043, OR = 2.735). CONCLUSION The rs17880292 G/A genotype and the rs1059586 A/A genotype could be linked to an increased risk of cervical cancer. Rs17879702 and rs17882525 might be haplotype-tag SNPs (htSNPs) or belong to some other haplotypes, which might exert a protective effect against cervical cancer in combination. The 582A-5592A-5667T haplotype was shown to be a marker for susceptibility to cervical carcinogenesis.