| 吴艳艳 吴琍 王宇 曹伟红 侯琳.亚甲基四氢叶酸还原酶基因C677T、G1793A 单核苷酸多态性
与散发性乳腺癌易感性的关系[J].,2012,12(14):2609-2614 |
| 亚甲基四氢叶酸还原酶基因C677T、G1793A 单核苷酸多态性
与散发性乳腺癌易感性的关系 |
| Relation between the SNPs in Methylenetetrahydrofolate Reductase GeneC677T and G1793A and the Susceptibility of Sporadic Breast Cancer |
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| DOI： |
| 中文关键词: 散发性乳腺癌 亚甲基四氢叶酸还原酶 单核苷酸多态性 PCR-RFLP |
| 英文关键词: Sporadic breast cancer Methylenetetrahydrofolate reductase (MTHFR) Single nucleotide polymorphisms Polymerase
chain reaction-restriction fragment length polymorphism(PCR-RFLP) |
| 基金项目:山东省自然科学基金项目(2009ZRB14999) |
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| 中文摘要: |
| 目的：研究亚甲基四氢叶酸还原酶（MTHFR）基因C677T、G1793A 位点单核苷酸多态性与散发性乳腺癌易感性关系。方法：
采用聚合酶链反应- 限制性片段长度多态性（PCR-RFLP）方法，对200 例乳腺癌患者及200 例正常对照者MTHFR 基因C677T、
G1793A 位点单核苷酸多态性进行分析，logistic 回归分析不同基因型与乳腺癌风险的关系。结果：乳腺癌组MTHFR 677TT 基因
型频率为25.00%显著高于正常对照组的10.50%（X2=14.401，P=0.001），CT 基因型频率为44.50%低于正常对照组的54.50%，CC
基因型频率在乳腺癌组和正常对照组中无差别；MTHFR 1793GA 基因型频率为18.50%显著高于正常对照者的8.50%（X2=8.563，
P=0.003）。乳腺癌患者MTHFR 677T 和1793A 等位基因频率分别为47.25%、9.25%，显著高于对照组中的37.75%、4.25%。
MTHFR 677TT 基因型携带者罹患乳腺癌的风险是677CC 基因型携带者的2.732 倍（95%CI=1.418～5.051，P=0.001），MTHFR
1793GA 基因型携带者罹患乳腺癌的风险是1793GG 基因型携带者的2.444 倍（95%CI=1.325～4.505，P=0.003）。另外，乳腺癌组
中MTHFR C677T 基因多态性与肿瘤大小相关（x2=7.431，P=0.024，MTHFR G1793A 基因多态性与淋巴结转移情况（x2=8.939，
P=0.011）、癌组织学分级（x2=9.983，P=0.007）相关。结论：MTHFR C677T、G1793A 基因多态性与散发性乳腺癌的易感性相关。 |
| 英文摘要: |
| To investigate the relation between C677T and G1793A site SNPs (Single nucleotide polymorphisms) of methylenetetrahydrofolate
reductase (MTHFR) gene and the susceptibility of sporadic breast cancer, the polymerase chain reaction-restriction fragment
length polymorphism (PCR-RFLP) method was used to analyze the SNPs of MTHFR C677T and G1793A in 200 breast cancer patients
and 200 control volunteers, and the logistic regression analysis was performed to investigate the association between different
genotypes and susceptibility of breast cancer. The results showed that, the frequency of MTHFR 677TT genotype in the breast cancer
group was 25.00%, which was significantly higher than 10.50% in the controls (X2=14.401, P=0.001); The frequency of MTHFR 677CT
genotype was 44.50%, which was lower than 54.50% in the controls; the frequency of MTHFR 677CC genotype was similar in both the
cases and the controls; and the frequency of MTHFR 1793GA genotype was 18.50%, which was evidently higher than 8.50% in the
controls (X2=8.563, P=0.003). The allele frequencies of MTHFR 677T and 1793A in the breast cancer patients were 47.25% and 9.25%,
respectively, which were significantly greater than 37.75% and 4.25% in the controls. For MTHFR C677T, the MTHFR 677TT genotype
was found to be at a significant 2.732-fold increased risk of developing breast cancer (95% CI=1.418~5.051, P=0.001), compared with
that in the referent group carrying the MTHFR 677CC genotype. For MTHFR G1793A, the MTHFR1793GA genotype was found to be at
a significant 2.444-fold increased risk of developing breast cancer (95% CI=1.325~4.505, P=0.004), compared with the referent group
carrying the MTHFR 1793GG genotype. Besides, the polymorphism of MTHFR C677T gene in the breast cancer group was associated
with the tumor size (x2=7.431, P=0.024), while the polymorphism of MTHFR G1793A gene was associated with lymph node metastasis
(x2=8.939，P=0.011) and cancer histological grading (x2=9.983，P=0.007). The polymorphism of MTHFR genes C677T and G1793A is
correlated with the susceptibility of sporadic breast cancer. |
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