论文部分内容阅读
目的探讨N-乙酰基转移酶2(NAT2)3个tag SNPs位点基因多态性和环境因素的交互作用与大肠癌的关系。方法采用以医院为基础的1∶2配比的病例对照研究方法,运用多重聚合酶链反应(PCR)和连接酶检测(LDR)的方法对104例大肠癌患者(大肠癌组)和208例在性别、年龄、民族和居住地同病例组相匹配的同期入院的非肿瘤患者(对照组)NAT2基因上的3个tag SNPs位点进行基因型分析。以条件logistic回归模型分析比较各基因型在两组中分布频率的差异,以及基因多态性和环境因素的交互作用。结果 rs1799929和rs1799930位点3种基因型在大肠癌组和对照组中的分布差异有统计学意义(P<0.05);与携带其野生纯合子基因型者比较,携带rs1799929 CT或TT基因型者患大肠癌风险无显著增加(P>0.05),携带rs1799930 AA基因型个体罹患大肠癌风险是GG基因型的1.088倍(95%CI:0.463~2.553),但差异无统计学意义,携带至少一个rs1799930位点A等位基因的个体罹患大肠癌的风险是GG基因型的2.059倍(95%CI:1.259~3.366),且差异有统计学意义(P<0.05)。交互作用分析结果表明rs1799929位点多态性与rs1799931位点多态性、rs1799930位点多态性与肠道慢性疾病、常食用新鲜蔬菜和膳食类型之间在大肠癌发生中存在交互作用,交互作用的OR值分别为1.163、1.455、0.629、0.859。结论 NAT2基因rs1799930A等位基因可能是韶关地区人群大肠癌的危险等位基因,NAT2基因多态性之间及与肠道慢性疾病之间在大肠癌发生中存在交互作用,能增加罹患大肠癌的风险;相反,NAT2基因多态性与常食用新鲜蔬菜、膳食类型之间在大肠癌发生中存在交互作用,能降低罹患大肠癌的风险。
Objective To investigate the relationship between polymorphism of three SNPs at N-acetyltransferase 2 (NAT2) site and environmental factors and colorectal cancer. Methods A hospital-based 1: 2 matched case-control study was performed in 104 patients with colorectal cancer (colorectal cancer) and 208 with colorectal cancer using multiplex polymerase chain reaction (PCR) and ligase detection (LDR) Genotype analysis was performed on the three tag SNPs on the NAT2 gene in non-tumor patients (control group) admitted to the same age, ethnic group, and place of residence matched to the case group. The conditional logistic regression model was used to analyze the differences in the distribution frequency of each genotype between the two genotypes and the interaction between genetic polymorphisms and environmental factors. Results The distribution of rs1799929 and rs1799930 loci in colorectal cancer group and control group were significantly different (P <0.05). Compared with those carrying wild type homozygote, those with rs1799929 CT or TT genotype There was no significant increase in the risk of colorectal cancer (P> 0.05). The risk of colorectal cancer in individuals with rs1799930 AA genotype was 1.088 times (95% CI: 0.463-2.553), but the difference was not statistically significant The risk of developing colorectal cancer in individuals with the rs1799930 A allele was 2.059 times (95% CI: 1.259-3.366) compared with the GG genotype, and the difference was statistically significant (P <0.05). The results of interaction analysis showed that rs1799929 locus polymorphism and rs1799931 locus polymorphism, rs1799930 locus polymorphism and chronic intestinal diseases, regular consumption of fresh vegetables and dietary types in the occurrence of colorectal cancer in the interaction, interaction OR value of the role of 1.163,1.455,0.629,0.859. Conclusion The rs1799930A allele of NAT2 gene may be the risk allele of colorectal cancer in Shaoguan population. There is an interaction between NAT2 gene polymorphism and chronic intestinal diseases in colorectal carcinogenesis, which may increase the risk of developing colorectal cancer Risk; On the contrary, NAT2 gene polymorphisms and the presence of fresh vegetables, dietary types exist in the occurrence of colorectal cancer in the interaction, can reduce the risk of suffering from colorectal cancer.