TOX3基因rs3803662位点基因型与乳腺癌病理、临床特征的关系

目的 探讨TOX3基因rs3803662位点基因型与病理、临床特征的关系。方法 采用TaqMan 单核苷酸多态性(SNP)法检测TOX3基因rs3803662位点基因型,分析不同病理特征和临床特征与基因型分布的关系。结果 病理类型、组织分级、淋巴结转移、ER状态等病理特征与rs3803662位点基因型分布无关(P＞0.05);IDC型和SBR3级变异型基因携带率分别显著高于DCIS型和SBR2级(P＜0.05)。诊断时年龄、临床分期、月经持续时间(年)及月经状态等临床特征与rs3803662基因型分布有关(P＜0.05),纯合突变携带率随月经持续年限增加而显著增加(P_Trend=0.034)。结论 TOX3基因rs3803662位点变异型基因与病理类型和组织分级有关,与临床分期、月经持续时间等临床特征有关。

Relationship between genotype of rs3803662 locus in TOX3 gene and clinical and pathological characteristics of breast cancer

Objective To investigate the relationship between genotype of rs3803662 locus in TOX3 gene and clinical and pathological characteristics. Methods The TaqMan Single nueleotide polymorphism（SNP） assay was carried out to detect the dimorphism at the rs3803662 SNP loci. The distribution of genotype was com- pared in the different clinical characteristics and pathological characteristics. Results The distribution of rs3803662 genotype did not associate with pathological characteristics（P 〉 0.05 ） ,such as pathological type, his- tological grade, Lymph node involvement, ER status and etc. The proportion of variant genotype carriers was signif- icantly higher in the IDC type and SBR3 grade than DCIS type and SBR2 grade, respectively （ P 〈 0. 05 ）. The distribution of rs3803662 genotype was associated with age at diagnosis, clinical stages, menstrual duration and clinical characteristics（ P 〈 0.05 ）. The rate of homozygous mutation carrier increased significantly with the menstrual duration （ PTrend = 0. 034）. Conclusion The variant genotype of rs3803662 in TOX3 was associated with DIC and SBR3. The distribution of rs3803662 genotype was associated with clinical stages, menstrual duration and clinical characteristics.