rs4779584 C/T、rs4444235 T/C单核苷酸多态性与江苏泰州地区结直肠癌的发病风险研究

目的 了解单核苷酸多态性（SNP）与泰州地区人群中结直肠癌发病的关系。方法 收集泰州人民医院的76例结肠癌、84例直肠癌患者外周血样本作为疾病组，另选170例健康体检正常人群外周血样本作为对照组，选取与结直肠癌高度相关的SNP位点（rs4779584和rs4444235）进行检测，分析不同基因型和等位基因分布情况及其与结直肠癌总体和不同部位的患病风险。结果 两组rs4779584 C/T和rs4444235 T/C基因型分布均符合Hardy-Weinberg平衡。疾病组rs4779584 C/T和rs4444235 T/C的基因型和等位基因分布与对照组相比，差异均有统计学意义（P<0.05）。rs4779584 C/T中，以CC基因型为参照，CT和TT基因型与结直肠癌的患病风险无关联；以CC+CT基因型为参照，TT基因型的结直肠癌患病风险升高，以C等位基因为参照，T等位基因的结直肠癌患病风险升高，差异均有统计学意义（P<0.05）。rs4444235 T/C中，以TT、TT+TC基因型为参照，CC基因型的结直肠癌患病风险均升高；以T等位基因为参照，C等位基因的结直肠癌的患病风险升高，差异均有统计学意义（P<0.05）。结论 在江苏泰州地区人群中，rs4779584和rs4444235 位点SNP与结直肠肿瘤发病风险高度相关。

Association between single nucleotide polymorphisms of rs4779584, rs4444235 and the susceptibility of colo-rectal cancer in Taizhou,Jiangsu Province

Objective To investigate the relationship between single nucleotide polymorphism（SNP） of rs4779584， rs4444235 and the susceptibility of colorectal cancer（CRC） in Taizhou area of Jiangsu province. Methods This hospital-based case-control study was conducted in 160 cases with CRC and 170 healthy controls. The association between the rs4779584，rs4444235 polymorphism and CRC was examined by the overall odds ratio with a 95% confidence interval. Results Genotype distribution of rs4779584 C/T and rs4444235 T/C was in accordance with Hardy-Weinberg balance in both groups. Compared with the control group， the distribution of genotype and allele of two SNPs were statistically significant in disease group（P<0.05）. In rs4779584 C/T， when the CC genotype was used as the reference， the CT/TT genotypes were associated with the risk for CRC； when the CC/CT were used as the reference， the TT genotype was associated with the risk for CRC； when C allele was used as the reference， the T allele was associated with the risk for CRC（P<0.05）. In rs4444235 T/C， when the TT or TT/TC were used as the reference， the CC genotype was associated with the risk for CRC； when T allele was used as the reference， C allele was associated with the risk for CRC（P<0.05）.Conclusion Carriers of TT homozygous or T allele at rs4779584 and CC homozygous or C allele at rs4444235 had increased susceptibility to development of CRC in Taizhou area of Jiangsu.