癌变·畸变·突变2018，Vol.30Issue(3)：209-213,5.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
Genetic variations in the mitotic checkpoint gene MAD1L1, and risk for breast cancer
摘要
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 TF 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.关键词
乳腺癌/纺锤体检查点/MAD1L1/遗传易感性Key words
breast cancer/spindle assembly checkpoint/MADIL1/genetic susceptibility分类
医药卫生引用本文复制引用
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):209-213,5.基金项目
广东省科技计划项目(2013B021800264) （2013B021800264）
