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目的 探讨包头地区汉族人群中哺乳动物不育系20样激酶2(MST2)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2 mL外周血用于后续基因分型；根据NCBI-Hapmap数据库提供的中国汉族人群遗传多态性数据筛选MST2基因的单核苷酸多态性(SNPs);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4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MST2基因5个SNP,即rs11783149、rs10955176、rs7827435、rs4075986、rs3019295。SNP rs4075986与结直肠癌发病风险相关联，与GG+AA基因型相比，AG基因型携带者发病风险更高[OR(95%CI)=2.473(1.844～3.316)];与GG基因型相比，AG+AA基因型携带者发病风险更高[OR(95%CI)=2.475(1.844～3.323)]。SNP rs4075986和rs3019295与直肠癌发病风险相关联，与rs4075986 GG+AA基因型携带者相比，AG基因型携带者发病风险升高[OR(95%CI)=3.411(2.387～4.874)];与rs3019295 GG+AA基因型相比，携带AG基因型直肠癌发病风险降低[OR(95%CI)=0.706(0.501～0.996)]。SNP rs11783149和rs4075986与结肠癌发病风险相关联，与rs11783149 CC基因型携带者相比，TT基因型[OR(95%CI)=10.883(1.186～99.862)]和CT基因型[OR(95%CI)=1.665(1.036～2.675)]携带者引发结肠癌发病风险升高；与rs4075986 GG基因型携带者相比，AG+AA基因型[OR(95%CI)=1.824(1.262～2.638)]携带者结肠癌发病风险升高。结论 MST2基因SNP rs3019295 AG基因型可能是直肠癌的保护性因素；rs11783149 CT、TT基因型可能是引发结肠癌的危险因素；rs4075986 AG和AG+AA基因型可能是引发结直肠癌、直肠癌、结肠癌的危险因素。
Abstract：Objective To explore the association between mammalian sterile 20-like kinase 2(MST2) gene polymorphism 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 pop-ulation were collected, and 2 mL of peripheral blood was taken for subsequent gene genotyping. Single nucleotide polymorphisms(SNPs) of MST2 gene were screened according to the genetic polymorphism data of Chinese Han population provided by the NCBI-Hapmap 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 Five SNPs of MST2 gene were screened, namely rs11783149, rs10955176, rs7827435, rs4075986, rs3019295. Among them, SNP rs4075986 was associated with the risk of colorectal cancer. Compared with the rs4075986 GG+AA genotype, carrying the AG genotype [OR(95%CI)=2.473(1.844-3.316) could increase the risk of colorectal cancer. Compared with the rs4075986 GG genotype, carrying the AG+AA genotype [OR(95%CI)=2.475(1.844-3.323) could increase the risk of colorectal cancer. SNP rs4075986 and rs3019295 were associated with the risk of rectal cancer. Compared with the rs4075986 GG+AA genotype, carrying the AG genotype [OR(95%CI)=3.411(2.387-4.874)] could increase the risk of rectal cancer. Compared with the rs3019295 GG+AA genotype, carrying the AG genotype [OR(95%CI)=0.706(0.501-0.996)] could reduce the risk of rectal cancer. SNP rs11783149 and rs4075986 were associated with the risk of colon cancer. Compared with the rs11783149 CC genotype, carrying the TT [OR(95%CI)=10.883(1.186-99.862)] and CT [OR(95%CI)=1.665(1.036-2.675)] genotype could increase the risk of colon cancer, respectively. Compared with the rs4075986 GG genotype, the AG+AA genotype [OR(95%CI)=1.824(1.262-2.638)] could increase the risk of colon cancer. Conclusion MST2 gene SNP rs3019295 AG genotype may be protective factor for rectal cancer. SNP rs11783149 CT and TT genotypes maybe risk factors for colon cancer. SNP rs4075986 AG and AG+AA genotypes may be a common risk factors for colorectal cancer, rectal cancer and colon cancer.
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基本信息:
DOI：10.19405/j.cnki.issn1000-1492.2025.12.009
中图分类号:R735.34
引用信息:
[1]王兴宇,马立聪,董文杰,等.哺乳动物不育系20样激酶2基因多态性与结直肠癌的关联分析[J].安徽医科大学学报,2025,60(12):2264-2272.DOI:10.19405/j.cnki.issn1000-1492.2025.12.009.
基金信息:
内蒙古自然科学基金项目(编号：2021LHMS08010); 包头医学院创新团队发展计划项目(编号：bycxtd-06)~~
2025-11-13
2025-11-13
2025-11-13