纺锤体检查点功能复合物基因MAD1L1遗传变异与潮汕地区女性乳腺癌易感性研究

doi:10.3969/j.issn.1004-616x.2018.03.009

癌变·畸变·突变 ›› 2018, Vol. 30 ›› Issue (3): 209-213.doi: 10.3969/j.issn.1004-616x.2018.03.009

纺锤体检查点功能复合物基因MAD1L1遗传变异与潮汕地区女性乳腺癌易感性研究

杨少宜¹, 张庆英¹, 吴俊东², 林秋强³, 王锐锋³, 郑庆元⁴, 蔡奋²

1. 汕头大学医学院公共卫生与预防医学教研室, 广东汕头 515041;
2. 汕头大学医学院附属肿瘤医院, 广东汕头 515041;
3. 汕头市澄海区人民医院, 广东汕头 515899;
4. 汕头市金平区妇幼保健院, 广东汕头 515041

收稿日期:2018-01-02 修回日期:2018-03-14 出版日期:2018-05-30 发布日期:2018-05-30
通讯作者: 张庆英,E-mail:qyzhang@stu.edu.cn E-mail:qyzhang@stu.edu.cn
作者简介:杨少宜,E-mail:shaoyi-yang@foxmail.com。
基金资助:
广东省科技计划项目（2013B021800264）

Genetic variations in the mitotic checkpoint gene MAD1L1, and risk for breast cancer

YANG Shaoyi¹, ZHANG Qingying¹, WU Jundong², LIN Qiuqiang³, WANG Ruifeng³, ZHENG Qingyuan⁴, CAI Fen²

1. Department of Public Health and Preventive Medicine, Medical College of Shantou University, Shantou 515041;
2. The Affiliated Tumor Hospital of Shantou University Medical College, Shantou 515041;
3. Shantou Chenghai People's Hospital, Shantou 515899;
4. Shantou Jinping Maternity & Child Healthcare Hospital, Shantou 515041, Guangdong, China

Received:2018-01-02 Revised:2018-03-14 Online:2018-05-30 Published:2018-05-30

摘要/Abstract

摘要： 目的：研究纺锤体检查点功能复合物基因MAD1L1基因变异与潮汕地区女性乳腺癌易感性的关系。方法：采用病例-对照研究，收集2015年12月—2017年12月在汕头大学医学院附属肿瘤医院住院的乳腺癌新发病例191例及同期社区健康对照225例，采用TaqMan荧光双标记探针法对MAD1L1基因位点rs1801368进行基因分型。同时收集其人口学特征、女性生理生育相关信息、生活方式、既往病史及乳腺癌患者临床病理指标。结果：MAD1L1 rs1801368位点基因型CC、CT、TT的频率分布在病例组中分别为20.63%、42.86%、36.51%，在对照组中分别为30.14%、41.15%、28.71%，两组中分布的差异无统计学意义（P > 0.05）。多因素分析表明，调整了年龄、初潮年龄、绝经状态等混杂因素后，相较于野生型纯合子CC，突变型纯合子TT增加乳腺癌患病风险（OR=3.399，95% CI：1.288~8.973，P=0.013）。结论：MAD1L1基因位点rs1801368多态性与潮汕地区女性乳腺癌易感性可能相关，携带TT基因型的较携带CC或CT基因型的女性患乳腺癌的风险高。

关键词: 乳腺癌, 纺锤体检查点, MAD1L1, 遗传易感性

Abstract: OBJECTIVE: To investigate associations between genotypic polymorphisms of the mitotic checkpoint gene,MAD1L1,and risk of breast cancer among women in the Chaoshan area. METHODS: This was a case-control study consisted of 191 new cases of breast cancer selected from the Tumor Hospital of SUMC between December,2015 and December,2017 and 225 healthy resident controls at the same period. TaqMan allelic discrimination was used to genotype the MAD1L1 locus rs1801368,and related information such as demographic characteristics,reproductive factors,smoking and drinking status,medical history and clinicopathological indexes for the cases were collected. RESULTS: The CC,CT and TT genotypes of rs1801368 accounted for 20.63%,42.86%,36.51% in the cases,and accounted for 30.14%,41.15%,28.71% in controls,genotype distribution showed no statistical significance between cases and controls,while logistic regression analysis showed that after adjusting the confounding factors such as age,age of menarche,menopause and so on,women carrying mutant homozygous TT genotype were more susceptible to breast cancer than those with wild homozygous CC genotype (OR=3.399,95% CI:1.288-8.973,P=0.013). CONCLUSION: Genetic variation of the SNP locus rs1801368 in mitotic checkpoint gene MAD1L1 was associated with breast cancer risk. Therefore,women who had the variant genotype would be susceptible to breast cancer.

Key words: breast cancer, spindle assembly checkpoint, MAD1L1, genetic susceptibility

中图分类号:

R737.9

杨少宜, 张庆英, 吴俊东, 林秋强, 王锐锋, 郑庆元, 蔡奋. 纺锤体检查点功能复合物基因MAD1L1遗传变异与潮汕地区女性乳腺癌易感性研究[J]. 癌变·畸变·突变, 2018, 30(3): 209-213.

YANG Shaoyi, ZHANG Qingying, WU Jundong, LIN Qiuqiang, WANG Ruifeng, ZHENG Qingyuan, CAI Fen. Genetic variations in the mitotic checkpoint gene MAD1L1, and risk for breast cancer[J]. Carcinogenesis, Teratogenesis & Mutagenesis, 2018, 30(3): 209-213.

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纺锤体检查点功能复合物基因MAD1L1遗传变异与潮汕地区女性乳腺癌易感性研究

Genetic variations in the mitotic checkpoint gene MAD1L1, and risk for breast cancer

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