Tian Tian, Wang Meng, Zheng Yi, Yang Tielin, Zhu Wenge, Li Hongtao, Lin Shuai, Liu Kang, Xu Peng, Deng Yujiao, Zhou Linghui, Dai Zhijun
Department of Oncology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, People's Republic of China.
School of Life Science and Technology, Xi'an Jiaotong University, Xi'an, People's Republic of China.
Cancer Manag Res. 2018 Apr 26;10:867-872. doi: 10.2147/CMAR.S158433. eCollection 2018.
Forkhead box P3 () is a key gene in the immune system which also plays a role in tumor development. This study aims to explore the association of two polymorphisms (rs3761548 and rs3761549) with susceptibility to breast cancer (BC).
A case-control study was conducted, involving 560 patients and 583 healthy individuals from the Chinese Han population. The genotypes of polymorphisms were detected using the Sequenom MassARRAY method. The association between polymorphisms and BC risk was evaluated using a χ test with an odds ratio (OR) and 95% confidence intervals (95% CIs) under six genetic models. False-positive report probability was utilized to examine whether the significant findings were noteworthy.
We observed that rs3761548 was associated with a higher BC risk in heterozygous, dominant, overdominant, and allele genetic models (CA vs CC: OR =1.32, =0.031; CA/AA vs CC: OR =1.32, =0.023; CA vs CC/AA: OR =1.29, =0.042; A vs C: OR =1.26, =0.029), whereas no significant association was found between rs3761549 and BC risk. In addition, CA, CA/AA genotype, and A allele of rs3761548 were related to larger tumor size, and the A allele was also correlated with a positive status of Her-2 in BC patients.
Our study suggests that polymorphism rs3761548 is associated with BC susceptibility in the Chinese and may be involved in tumor progression. Future studies are needed to confirm the results in a larger population with more races.
叉头框蛋白P3(FOXP3)是免疫系统中的关键基因,在肿瘤发展中也发挥作用。本研究旨在探讨两种FOXP3基因多态性(rs3761548和rs3761549)与乳腺癌(BC)易感性的关联。
进行了一项病例对照研究,纳入了560例患者和583名来自中国汉族人群的健康个体。使用Sequenom MassARRAY方法检测FOXP3基因多态性的基因型。在六种遗传模型下,使用χ²检验及比值比(OR)和95%置信区间(95%CI)评估FOXP3基因多态性与BC风险之间的关联。采用假阳性报告概率来检验显著结果是否值得关注。
我们观察到,在杂合子、显性、超显性和等位基因遗传模型中rs3761548与较高的BC风险相关(CA与CC:OR = 1.32,P = 0.031;CA/AA与CC:OR = 1.32,P = 0.023;CA与CC/AA:OR = 1.29,P = 0.042;A与C:OR = 1.26,P = 0.029),而rs3761549与BC风险之间未发现显著关联。此外,rs3761548的CA、CA/AA基因型和A等位基因与更大的肿瘤大小相关,并且A等位基因也与BC患者中Her-2的阳性状态相关。
我们的研究表明,FOXP3基因多态性rs3761548与中国人群的BC易感性相关,可能参与肿瘤进展。未来需要在更大规模、更多种族的人群中证实该结果。