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目的 研究儿茶酚-O-甲基转移酶(COMT)基因Val158Met多态性与乳腺癌易感性的关系.方法 用人工修饰双等位基因特异性引物结合SYBRGreen Ⅰ荧光聚合酶链式反应法对96例乳腺癌患者(试验组)和116例健康志愿者(对照组)进行COMT Val158Met基因分型,分析2组各基因型和等位基因分布频率的差异.结果 试验组和对照组的COMT Val158Met G等位基因分别为65.10％和71.98％,A等位基因分别为34.90％和28.02％,差异均无统计学意义(均P ＞0.05).试验组和对照组的COMT Val158Met G/G野生纯合子基因型分布频率分别为38.54％和54.31％,A/G杂合子基因型分布频率分别为53.13％和35.34％,差异均有统计学意义(均P＜0.05).试验组和对照组的A/A突变纯合子基因型分布频率分别为8.33％和10.35％,差异无统计学意义(P＞0.05).相对于G/G基因型,试验组A/G基因型增加患乳腺癌风险(风险度为2.118,95％ CI为1.189～3.744).结论 COMT Val158Met基因多态性可能与乳腺癌易感性有关.“,”Objective To investigate whether single nucleotide polymorphisms of catechol-O-methyl transferase (COMT) of Val158Met are associated with the risk of breast cancer.Methods Gene polymorphisms of COMT were detected using di-allele-specific-amplification with artificially modified primers combined with SYBR Green I real-time polymerase chain reaction in a case-control study,which included 96 breast cancer patients (treatment group) and 116 healthy women(control group).Results The frequency of allele G in COMT gene Val158Met was 65.10％ and 71.98％ in treatment group and control group,and the frequency of allele A were 34.90％ and 28.02％ respectively.There were no differences between the two groups in allele frequencies of COMT Val158Met among Guangxi Baise population (all P ＞ 0.05).COMT Val158Met G/G genotype frequency distribution of the treatment group (38.54％) was lower than that of control group (54.31％),A/G genotype frequency distribution of the treatment group was higher(53.13％)than that of control group (35.34％).The distribution frequency differences of the two groups homozygous wild-type and heterozygous were statistically significant (all P ＜ 0.05).A/A genotype frequency distribution was relatively similar in the treatment group and control group,and they were 8.33％ and 10.35％ respectively.The breast cancer risks of Guangxi Baise women with A/G heterozygous genotype increased by 2.118 times compared with that of G/G homozygous genotype.Conclusion Gene polymorphism of COMT Val158Met may be associated with the risk of breast cancer.