| 陈伟,张怡,朱颖,杨洋,龚雅洁,缪小平,钟荣.p53靶基因结合区遗传变异与中国人群乳腺癌遗传易感性的关联研究[J].中华流行病学杂志,2016,37(8):1063-1068 |
| p53靶基因结合区遗传变异与中国人群乳腺癌遗传易感性的关联研究 |
| Association between genetic variants in p53 binding sites and risks of breast cancer in Chinese population |
| 收稿日期:2016-03-22 出版日期:2016-08-10 |
| DOI：10.3760/cma.j.issn.0254-6450.2016.08.002 |
| 中文关键词: 乳腺癌 p53结合位点 rs1295925 |
| 英文关键词: Breast cancer p53 binding site rs1295925 |
| 基金项目:国家自然科学基金青年基金（81402746） |
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| 中文摘要: |
| 目的 探讨p53靶基因结合区遗传变异与中国人群乳腺癌遗传易感性的关系。方法 通过公共数据库下载乳腺癌细胞系ChIP-seq数据和各种生物信息学方法，筛选可能影响p53靶基因结合区的遗传变异。采用大样本病例-对照研究揭示p53靶基因结合区遗传变异与乳腺癌遗传易感性的关系。结果 利用生物信息学分析方法共筛选出p53靶基因结合区的3个多态位点，并在1 274例乳腺癌病例和1 255名健康女性对照进行关联研究。病例组和对照组年龄差异无统计学意义（P=0.318），绝经状况、吸烟和饮酒在病例组和对照组的分布差异无统计学意义，其对应的P值分别为0.539、0.258和0.131。VMP1-rs1295925各基因型在病例组和对照组的分布差异有统计学意义。校正年龄、绝经状况以及吸烟饮酒等后，携带rs1295925-CT和TT基因型的个体与携带rs1295925-CC基因型的个体相比，其患乳腺癌的风险分别增加了32%（OR=1.32，95% CI：1.07～1.62）和41%（OR=1.41，95% CI：1.13～1.78）。在等位基因模型、显性模型以及相加模型中也均发现了该遗传变异显著增加乳腺癌发病风险。结论 位于VMP1基因上的rs1295925可能是乳腺癌的遗传易感位点，后续需要生物学功能实验对结果进行验证。 |
| 英文摘要: |
| Objective To investigate the association between breast tissue specified variants in p53 binding sites and the risk of BC in Chinese women. Methods ChIP-seq database on p53 binding sites in MCF-7 cell lines was extracted to identify the possible variants in p53 target genes. A hospital-based case-control study was then performed to investigate the association between variants in p53 binding sites and the risk of BC in a Chinese women population. Results Three variants were identified from the bioinformatics analysis. A total of 1 274 BC cases and 1 255 frequency-matched cancer-free controls were included in this case-control study. The average age was comparable between the case and the control groups, with the P value as 0.318. Meanwhile, distributions on menopausal status, smoking and alcohol intake between cases and controls were similar with the P values as 0.539, 0.258 and 0.131, respectively. The genotype distribution of rs1295925 was significantly different between the case and the control groups. Individuals that carrying rs1295925-CT and rs1295925-TT genotypes were significantly associated with an increased BC risk when compared with rs1295925-CC genotype after adjustment of age, menopausal status, smoking and alcohol intake (OR=1.32, 95%CI:1.07-1.62 and OR=1.41, 95%CI:1.13-1.78, respectively). Positive associations were also observed under the allelic, dominant and additive models. Conclusion rs1295925 which located in VMP1 gene was associated with increased BC risk in the Chinese women population. |
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