Association Of CD27and CD70Gene Polymorphisms With Risk Of Sporadic Breast Cancer In Chinese Women In Heilongjiang Province

Object: CD27and its ligand, CD70, are major costimulatory molecules whoseinteraction can regulate the expansion and differentiation of effector and memory Tcells populations. This study aims to evaluate the associations between singlenucleotide polymorphisms (SNPs) in CD27/CD70gene and breast cancersusceptibility.Methods: Five tagSNPs and one coding polymorphism in CD27, as well as threetagSNPs in CD70, were genotyped in a case-control study of610breast cancerpatients and617healthy controls using polymerase chain reaction-restriction fragmentlength polymorphism (PCR-RFLP). Data was analyzed with Chi-square test, oddsratio and95%CI by SPSS16software. Haploview4.1software was used to resethaplotypes and evaluate their frequencies in this case-control study. Results of DNAsequencing were shown in Chromas2.32software.Results:①In our research, the minor allele frequency (MAF) of rs25680wasless than5%, while the MAF of the other eight SNPs were higher than5%. And thegenotypes distributions of the nine SNPs were in Hardy-Weinberg equilibrium (P>0.05).②Compared with the common genotype and allele of each SNP, thefrequencies of CD27rs3136550CT genotype and rs2267966AT genotype werehigher in controls in comparison with cases (P=0.028; P=0.021), CD70rs1862511GG genotype and AG genotype and C allele had lower frequencies in cases(P=0.024;P=0.002; P=0.00113, respectively); CD70rs2059154CC genotype and AC genotypeand C allele had lower frequencies in cases (P=0.001; P=0.044; P=0.000838,respectively). In clinical features analysis, CD27rs3136550was associatied with PRstatus and lymph node involvement; CD27rs2286598was associated with the status of PR and C-erbB-2; CD27rs2267966was associated with ER and PR status andlymph node involvement; CD27rs7132503was associated with ER status and lymphnode involvement.③In haplotype analysis, CCGAG haplotype in CD27and TAAhaplotye in CD70had higher frequencies in cases(P=0.006; P=0.0000775), and TGC，TAC，TGA haplotypes in CD70had lower frequencies in cases (P=0.012; P=0.005;P=0.002, respectively). The associations of CCGAG, TAA, TAC and TGA haplotypesremained significant after correcting P-value for multiple testing. The frequency ofCCGAA haplotype was higher in ER-positive cases, and TCGTG haplotype had alower frequency in both PR-positive cases and cases of positive lymph nodeinvolvement.Conclusions: These results suggested that the variants of CD27and CD70arelikely involved in the risk of breast cancer. Some SNPs in CD27were also associatedwith clinical characteristics of breast cancer in Chinese Han women in Heilongjiangprovince.