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中国癌症防治杂志

中国癌症防治杂志 ›› 2018, Vol. 10 ›› Issue (3): 216-220.doi: 10.3969/j.issn.1674-5671.2018.03.11

• 临床研究 • 上一篇    下一篇

LRP1基因突变与壮族人群前列腺癌相关性的初步研究

  

  1. 广西医科大学附属肿瘤医院泌尿外科；广西医科大学研究生院；广西医科大学基因组与个体化医学研究中心；广西医科大学第一附属医院泌尿外科
  • 出版日期:2018-06-25 发布日期:2018-07-02
  • 通讯作者: 程继文 E-mail:chengjiwen1977@foxmail.com
  • 基金资助:

    国家自然科学基金资助项目（81660424）；广西科学研究与技术开发计划（桂科攻1598012-42）

Preliminary study of the association between LRP1 gene mutation and prostate cancer in the Zhuang minority

  • Online:2018-06-25 Published:2018-07-02

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摘要：

目的 通过对壮族前列腺癌患者癌组织和癌旁组织进行全外显子组测序，探讨可能与前列腺癌易感性有关的基因单核苷酸多态性（single nucleotide polymorphism，SNP）突变基因。方法 取26例壮族前列腺癌患者癌组织及癌旁组织，提取DNA后进行全外显子组检测，筛选排在前60（TOP 60）的突变基因。在DAVID在线功能通路富集数据库和人类基因变异与临床信息整合数据库中查找TOP 60突变基因中与人类疾病发生相关的基因突变。结果 共突变结果显示，26例前列腺癌患者中，23.1%的患者低密度脂蛋白受体相关蛋白1基因（low density lipoprotein receptor-related protein 1，LRP1）突变；其中检索到LRP1基因的chr12：57556206位点为致病位点，发现 chr12：57603908、chr12：57548363、chr12：57567636、chr12：57554683、chr12：57549979位点可能与前列腺癌发生有关，且各位点均与 chr12：57556206位点相互独立（r 2<0.7）。结论 LRP1基因突变可能与壮族人群前列腺癌发生有关。

关键词: 前列腺肿瘤, 全外显子测序, 低密度蛋白受体相关蛋白1基因

Abstract:

Objective To identify genetic risk factors for prostate cancer in the Zhuang minority by performing whole exome sequencing on prostate cancer tissues and adjacent tissues. Methods Cancer tissues and adjacent tissues were collected from 26 Zhuang individuals with prostate cancer. All exons were sequenced using the Illuminate platform. Mutated genes were screened，TOP 60 candidate genes were selected，and these candidates were examined for association with human disease based on analysis with the DAVID online function pathway enrichment database and an integrated genetic and clinical database for coding variants in the human genome. Results Co-mutation analysis showed that 23.1% of patients possessed a mutation in low-density lipoprotein receptor-related protein 1（LRP1）. An integrated database linking human genetic variation with clinical information showed that the LRP1 mutation at chr12：57556206 may be associated with prostate cancer. This analysis also identified five chr12 sites independent of 57556206 that may be related to prostate cancer： 57603908，57548363，57567636，57554683，and 57549979. Conclusion Mutations in the LRP1 gene may be related to prostate cancer in the Zhuang population.

Key words: Prostate neoplasms, Whole exome sequencing, Low-density lipoprotein receptor-related protein 1