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目的探讨河南地区汉族人群5,10-亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)氨基酸突变位点C677T和A1298C基因多态性分布与肺癌发生的关系。方法 202例肺癌患者(肺癌组)和202例体检健康者(对照组),2组采用限制性片段长度多态性酶切技术检测MTHFR基因型,分析MTHFR基因C677T和A1298C位点基因频率分布特点。结果肺癌组MTHFR基因C677T位点CC、CT、TT基因亚型分布频率分别为26.7%、50.5%、22.8%,对照组分别为34.2%、55.4%、10.4%,CC、CT亚型与对照组比较差异无统计学意义(P>0.05),TT基因亚型与对照组比较差异有统计学意义(P<0.05);携带TT基因型患肺癌的风险比值比为2.542,95%CI为1.453~4.444;肺癌组MTHFR基因A1298C位点AA、AC、CC基因亚型分布频率分别为27.2%、52.5%、20.3%,对照组分别为32.2%、50.5%、17.3%,2组比较差异均无统计学意义(P>0.05)。结论 MTHFR基因C677T基因TT亚型与肺癌的发病明显相关,未发现A1298C基因多态性与肺癌的发生有相关性。
Objective To investigate the relationship between polymorphism of C677T and A1298C polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR) and the occurrence of lung cancer in Henan Han population. Methods Totally 202 patients with lung cancer (lung cancer group) and 202 healthy controls (control group) were enrolled in this study. The MTHFR genotypes were detected by restriction fragment length polymorphism (PCR-RFLP) in two groups. The frequency distribution of MTHFR gene C677T and A1298C . Results The distribution frequencies of CC, CT and TT genotypes of MTHFR gene C677T in lung cancer group were 26.7%, 50.5% and 22.8% respectively, while those in control group were 34.2%, 55.4% and 10.4% (P <0.05). The TT genotype was significantly different from the control group (P <0.05). The odds ratio of TT genotype in patients with lung cancer was 2.542, and the 95% CI was 1.453 ~ 4.444. The distribution frequencies of AA, AC and CC genotypes in A1298C locus of lung cancer group were 27.2%, 52.5% and 20.3% respectively, while those in control group were 32.2%, 50.5% and 17.3% Significance (P> 0.05). Conclusion The genotype of MTHFR gene C677T TT is significantly associated with the development of lung cancer. No association was found between A1298C polymorphism and the occurrence of lung cancer.