Relationship between rs12881240 Polymorphism of PAX9 Gene and Tumor Susceptibility and Neoadjuvant Chemotherapy Effect in Breast Cancer Patients
10.3969/j.issn.1671-7414.2025.06.009
- VernacularTitle: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
- Author:
Mao WANG
1
;
Yinhai DAI
1
Author Information
1. 陕西中医药大学第二附属医院肿瘤乳腺外科,陕西 咸阳 712000
- Publication Type:Journal Article
- Keywords:
paired box gene 9;
single nucleotide polymorphism;
breast cancer;
genetic predisposition;
neoadjuvant chemotherapy
- From:
Journal of Modern Laboratory Medicine
2025;40(6):45-49
- CountryChina
- Language:Chinese
-
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.
