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.

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.