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目的探讨N-乙酰基转移酶2(NAT2)基因多态性与大肠癌遗传易感性关系。方法运用以医院为基础的1:2配比病例对照研究和采用多重聚合酶链反应-连接酶检测(PCR-LDR)方法,对104例大肠癌病例和208例非大肠癌对照组人群NAT2基因上的3个tag SNPs位点进行基因型检测。结果各位点在对照组中的基因型分布均符合Hardy-Weinberg平衡;rs1799931位点在病例和对照组中的基因型和等位基因频数分布差异均无统计学意义(均P>0.05);病例组中rs1799929的T等位基因和rs1799930的A等位基因频率明显高于对照组,携带rs1799929的T等位基因和rs1799930的A等位基因是大肠癌发生的危险因素(OR=2.069、1.431,P<0.01);NAT2慢速基因型在病例组的频率为43.3%(45例),对照组为26.0%(54例),差异有统计学意义(χ2=9.381,P<0.01);携带NAT2慢速基因型的个体患大肠癌的风险是携带快速基因型个体的1.667倍(95%CI=1.213~2.291)。结论 NAT2基因多态性与大肠癌的易感性有关,携带慢速基因型的人群患大肠癌的风险增加。
Objective To investigate the relationship between polymorphism of N-acetyltransferase 2 (NAT2) gene and genetic predisposition of colorectal cancer. Methods A hospital-based 1: 2 matched case-control study and multiplex polymerase chain reaction-polymerase chain reaction (PCR-LDR) were used to detect the expression of NAT2 gene in 104 cases of colorectal cancer and 208 cases of non-colorectal cancer control group Three tag SNPs were genotyped. Results The distribution of genotypes in each control group was in line with Hardy-Weinberg equilibrium. There was no significant difference in genotype and allele frequencies between rs1799931 locus and control group (all P> 0.05) The allele frequencies of rs1799929 T allele and rs1799930 A allele in the group were significantly higher than those in the control group. The T allele of rs1799929 and rs1799930 A allele were risk factors of colorectal cancer (OR = 2.069, 1.431, P <0.01). The genotype of NAT2 was 43.3% (45 cases) in the case group and 26.0% (54 cases) in the control group, the difference was statistically significant (χ2 = 9.381, P <0.01) Individuals with a slow genotype had a 1.667-fold greater risk of developing colorectal cancer (95% CI = 1.213-2.291) than individuals with rapid genotypes. Conclusion The polymorphism of NAT2 gene is associated with the susceptibility of colorectal cancer. The risk of colorectal cancer is increased in those with a slow genotype.