现代检验医学杂志2025，Vol.40Issue(6)：45-49,5.DOI:10.3969/j.issn.1671-7414.2025.06.009
乳腺癌患者PAX9基因rs12881240位点多态性与肿瘤易感性及新辅助化疗疗效的关系研究
Relationship between rs12881240 Polymorphism of PAX9 Gene and Tumor Susceptibility and Neoadjuvant Chemotherapy Effect in Breast Cancer Patients
摘要
Abstract
Objective To explore the relationship between rs12881240 polymorphism of paired box gene 9(PAX9)gene and tu-mor susceptibility and efficacy of neoadjuvant chemotherapy in breast cancer patients.Methods A total of 167 patients with breast cancer admitted to the Second Affiliated Hospital of Shaanxi University of Chinese Medicine from January 2022 to Janu-ary 2024 were selected as the study group,and another 110 healthy patients who came to the Hospital for physical examination during the same period were selected as the control group.TaqMan-MGB probe method is used for the single nucleotide poly-morphism(SNP)genotyping rs12881240 of PAX9 gene in peripheral blood,analyzed rs12881240 PAX9 interact gene alleles dis-tribution,and evaluated the genetic susceptibility to breast cancer and neoadjuvant chemotherapy complete remission(pathologi-cal complete response,pCR)relationship.Results In the study group,heavy drinking and absolute value of lymphocyte(LYM#)were higher than those in the control group.The RBC count and PLT count were lower than those of the control group,and the difference were statistically significant(χ2/t=-32.371～63.941,all P<0.05).The genotypes of rs12881240 locus of PAX9 gene were in the control group,and the distribution of study group was consistent with Hardy-Weinberg equilibrium law(χ2=1.647,1.286,all P>0.05),which was representative of the population.The distribution frequencies of alleles C and genotypes CC at rs12881240 locus of PAX9 gene in the study group were higher than those in the control group,and the differences were statisti-cally significant(χ2=14.685,10.401,all P<0.05).In the co-dominant model(CC vs CG)of rs12881240,the risk of CC genotype carriers was higher than that of GG genotype carriers(OR=1.537,95%CI:1.274～2.804,P=0.018).In the dominant model(CG+CC vs GG)and recessive model(CG+GG vs CC),rs12881240 polymorphism was associated with the risk of breast cancer(all P<0.05).Taking age,BMI,menstrual status,heavy drinking,RBC count,PLT count,and absolute value of LYM#as correction factors,rs12881240 was associated with the risk of breast cancer under the three genetic models,and the difference was statistically significant(all P<0.05).There were statistically significant differences in pCR rates between CC,GC,GG geno-types and non-PCR rates at rs12881240 sites(χ2=9.012,P=0.011),and GG genotype carriers had higher pCR rate(χ2=9.012,P=0.011).Conclusion Individuals with genotype CC and individuals with genotype CC+CG have a higher risk of breast cancer.rs12881240 polymorphism of PAX9 gene is associated with breast cancer susceptibility and neoadjuvant chemotherapy pCR in patients,and genotype GG carriers have higher pCR rate.关键词
配对盒基因9/单核苷酸多态性/乳腺癌/遗传易感性/新辅助化疗Key words
paired box gene 9/single nucleotide polymorphism/breast cancer/genetic predisposition/neoadjuvant chemotherapy分类
临床医学引用本文复制引用
王茂,代引海..乳腺癌患者PAX9基因rs12881240位点多态性与肿瘤易感性及新辅助化疗疗效的关系研究[J].现代检验医学杂志,2025,40(6):45-49,5.基金项目
陕西省2022年科技计划项目(2022SF-563) （2022SF-563）
校级课题(2020XK06). （2020XK06）
