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探讨亚甲基四氢叶酸还原酶C677T和A1298C基因多态性与乳腺癌的易感性研究 被引量:3

Association study of methylenetetrahydrofolate C677T and methylenetetrahydrofolate A1298C gene polymorphism with breast cancer's predisposition
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摘要 目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T和A1298C位点多态性与乳腺癌易感性的关系。方法选取96例乳腺癌患者为疾病组,107例健康体检女性为对照组,用聚合酶链反应技术检测MTHFR基因C677T和A1298C位点的多态性,基因型分别为野生型(677CC)、杂合型(677CT)、纯合型(677TT)和野生型(1298AA)、杂合型(1298AC)、纯合型(1298CC)。结果乳腺癌组677位点3种基因型频率分别为39.58%、50.00%和10.42%,与对照组相比,差异无统计学意义(P>0.05);乳腺癌组1 298位点3种基因型频率分别为66.66%、22.92%和10.42%,其中野生型(1298AA)和杂合型(1298AC)与对照组比较,差异无统计学意义(P>0.05),而纯合型(C1298C)与对照组相比较差异有统计学意义(P<0.05)(OR=4.03,95%CI:1.08~15.11)。结论 MTHFR基因1 298位点A-C变异可能是台州地区乳腺癌的易感因素之一,但仅在CC纯合型时有统计学意义,677位点多态性与乳腺癌的发生无明显相关性。 Objective To explore the association of the polymorphism of the gene C677 T and A1298 C of methylenetetrahydrofolate(MTHFR) with the predisposition of breast cancer. Methods A matched case-control study was designed,96 patients with breast cancer were selected as the case group and 107 healthy women were selected as the control group. Polymerase chain reaction was used to detect the polymorphisms of the MTHFR gene at C677 T and A1298 C loci. The genotypes were wild type(677 CC) and heterozygous type(677 CT),homozygous(677 TT) and wild-type(1298 AA),heterozygous type(1298 AC),homozygous type(1298 CC). Results The frequencies of the 3 genotypes at the 677 locus of the breast cancer group were39. 58%,50. 00%,and 10. 42%,respectively,and compared with the control group,there was no statistical significance on the differences(P〈0. 05). The 3 genotype frequencies at the 1298 locus of the breast cancer group were 66. 66%,22. 92%and 10. 42%,and the differences of wild-type(1298 AA) and heterozygous type(1298 AC) were not statistically significant compared with the control group(P〈0. 05). The difference of homozygous type(C1298 C) was statistically significant compared with the control group(P〈0. 05)(OR = 4. 03,95% CI: 1. 08-15. 11). Conclusion The A-C mutation at 1298 loci of MTHFR gene may be one of the susceptibility factors of breast cancer in Taizhou,but it is only statistically significant when the CC is homozygous. The polymorphism at position 677 is not significantly related to the occurrence of breast cancer.
作者 陈寒君 钟倩怡 梁玲芝 许美芬 李招云 CHEN Han - jun;ZHONG Qian - yi;LIANG Ling - zhi;XU Mei - fen;LI Zhao - yun(Taizhou Central Hospital (the Affiliated Hospital of Taizhou College), Taizhou, Zhejiang 318000, China)
出处 《中国卫生检验杂志》 CAS 2018年第12期1437-1439,共3页 Chinese Journal of Health Laboratory Technology
关键词 亚甲基四氢叶酸还原酶C677T 亚甲基四氢叶酸还原酶A1298C 多态性 乳腺癌 易感性 Methylenetetrahydrofolate C677T Methylenetetrahydrofolate A1298C Polymorphism Breast cancer Predisposition
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