安徽医科大学学报2024,Vol.59Issue(3) :547-553.DOI:10.19405/j.cnki.issn1000-1492.2024.03.028

哺乳动物不育系20样激酶1基因多态性与结直肠癌的关联分析

Association study between mammalian sterile 20-like kinase 1 SNPs and colorectal cancer

马立聪 阎小霞 高芳 董文杰 李迎泽 贾彦彬
安徽医科大学学报2024,Vol.59Issue(3) :547-553.DOI:10.19405/j.cnki.issn1000-1492.2024.03.028

哺乳动物不育系20样激酶1基因多态性与结直肠癌的关联分析

Association study between mammalian sterile 20-like kinase 1 SNPs and colorectal cancer

马立聪 1阎小霞 2高芳 3董文杰 2李迎泽 2贾彦彬1
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作者信息

  • 1. 包头医学院第二附属医院消化病研究所,包头 014030;包头医学院 基础医学与法医学院,包头 014060
  • 2. 包头医学院 基础医学与法医学院,包头 014060
  • 3. 包头医学院 医学技术与麻醉学院,包头 014060
  • 折叠

摘要

目的 通过病例-对照关联研究的方法,在包头地区汉族人群中探讨哺乳动物不育系 20 样激酶 1(Mammalian sterile 20-like kinase 1,MST1)基因多态性及其单体型与结直肠癌、直肠癌和结肠癌发病风险的关联性.方法 收集经病理学确诊的结直肠癌患者390 例和正常体检人群413 例,留取2ml外周血用于后续基因分型;根据美国国家生物技术信息中心-人类单体型图数据库提供的中国汉族人群遗传多态性数据筛选MST1 基因的单核苷酸多态性(SNP);采用Taqman探针法进行基因分型;Logistic回归计算各SNP在共显性、显性、超显性、隐性四种遗传模型下与结直肠癌、直肠癌和结肠癌发病风险之间的关联性.结果 共筛选出 4 个MST1 基因SNP,即rs8000、rs2234197、rs2267853、rs6073629,其中SNP rs2234197 与直肠癌发病风险有关,相对于 GG+AA基因型,AG基因型可降低直肠癌发病风险,OR[95%置信区间(CI)]=0.657(0.442~0.976);SNP rs8000 与结肠癌发病风险有关,相对于TT+GT基因型,GG基因型可降低结肠癌发病风险[OR(95%CI)=0.425(0.182~0.992)].结论 MST1 基因SNP rs2234197 AG基因型和SNP rs8000 GG基因型可能分别是直肠癌和结肠癌的保护性因素.

Abstract

Objective To explore the association between mammalian sterile 20-like kinase 1(MST1)gene poly-morphism and haplotype and the risk of colorectal cancer,rectal cancer,and colon cancer in the Han population in Baotou area by case-control association study.Methods A total of 390 patients with colorectal cancer diagnosed by pathology and 413 normal physical examination population were collected,and 2 ml of peripheral blood was taken for subsequent gene genotyping.Single nucleotide polymorphisms(SNPs)of MST1 gene were screened according to the genetic polymorphism data of Chinese Han population provided by the National Center for Biotechnology In-formation-Haplotype Mapping database.Gene genotyping was performed by Taqman method.Logistic regression was used to calculate the association between each SNP and the risk of colorectal cancer,colon cancer,and rectal cancer under codominant,dominant,overdominant,and recessive genetic models.Results Four SNPs of MST1 gene were screened,namely rs8000,rs2234197,rs2267853,and rs6073629.Among them,SNP rs2234197 was associated with the risk of rectal cancer.Compared with the GG+AA genotype,the AG genotype could reduce the risk of rectal cancer,OR[95%confidence interval(CI)]=0.657(0.442-0.976).SNP rs8000 was associated with the risk of colon cancer.Compared with the TT+GT genotype,the GG genotype could reduce the risk of colon cancer[OR(95%CI)=0.425(0.182-0.992)].Conclusion MST1 gene SNP rs2234197 AG genotype and SNP rs8000 GG genotype may be protective factors for rectal cancer and colon cancer,respectively.

关键词

结直肠癌/Hippo通路/MST1/单核苷酸多态性/基因分型/关联研究

Key words

colorectal cancer/Hippo pathway/MST1/single nucleotide polymorphism/genotyping/association study

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基金项目

内蒙古自治区自然科学基金(2021LHMS08010)

包头医学院创新团队发展计划(bycxtd-06)

出版年

2024
安徽医科大学学报
安徽医科大学

安徽医科大学学报

CSTPCD北大核心
影响因子:1.095
ISSN:1000-1492
参考文献量14
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