Dataset Information

Association of two FOXP3 polymorphisms with breast cancer susceptibility in Chinese Han women.

ABSTRACT: Background:Forkhead box P3 (FOXP3) 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 FOXP3 polymorphisms (rs3761548 and rs3761549) with susceptibility to breast cancer (BC). Method:A case-control study was conducted, involving 560 patients and 583 healthy individuals from the Chinese Han population. The genotypes of FOXP3 polymorphisms were detected using the Sequenom MassARRAY method. The association between FOXP3 polymorphisms and BC risk was evaluated using a ?2 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. Results: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, P=0.031; CA/AA vs CC: OR =1.32, P=0.023; CA vs CC/AA: OR =1.29, P=0.042; A vs C: OR =1.26, P=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. Conclusion:Our study suggests that FOXP3 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.

SUBMITTER: Tian T

PROVIDER: S-EPMC5927342 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Association of two <i>FOXP3</i> polymorphisms with breast cancer susceptibility in Chinese Han women.

Tian Tian T Wang Meng M Zheng Yi Y Yang Tielin T Zhu Wenge W Li Hongtao H Lin Shuai S Liu Kang K Xu Peng P Deng Yujiao Y Zhou Linghui L Dai Zhijun Z

Cancer management and research 20180426

<h4>Background</h4>Forkhead box P3 (<i>FOXP3</i>) 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 <i>FOXP3</i> polymorphisms (rs3761548 and rs3761549) with susceptibility to breast cancer (BC).<h4>Method</h4>A case-control study was conducted, involving 560 patients and 583 healthy individuals from the Chinese Han population. The genotypes of <i>FOXP3</i> polymorphisms were detected using the Sequenom MassARRAY me ...[more]

PMID: 29731666

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Project description:BACKGROUND: Breast cancer is a polygenetic disorder with a complex inheritance pattern. Single nucleotide polymorphisms (SNPs), the most common genetic variations, influence not only phenotypic traits, but also interindividual predisposition to disease, treatment outcomes with drugs and disease prognosis. The co-stimulatory molecule CD40 plays a prominent role in immune regulation and homeostasis. Accumulating evidence suggests that CD40 contributes to the pathogenesis of cancer. Here, we set out to test the association between polymorphisms in the CD40 gene and breast carcinogenesis and tumor pathology. METHODOLOGY AND PRINCIPAL FINDINGS: Four SNPs (rs1800686, rs1883832, rs4810485 and rs3765459) were genotyped by the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method in a case-control study including 591 breast cancer patients and 600 age-matched healthy controls. Differences in the genotypic distribution between breast cancer patients and healthy controls were analyzed by the Chi-square test for trends. Our preliminary data showed a statistically significant association between the four CD40 gene SNPs and sporadic breast cancer risk (additive P?=?0.0223, 0.0012, 0.0013 and 0.0279, respectively). A strong association was also found using the dominant, recessive and homozygote comparison genetic models. In the clinical features analysis, significant associations were observed between CD40 SNPs and lymph node metastasis, human epidermal growth factor receptor 2 (C-erbB2), estrogen receptor (ER), progesterone receptor (PR) and tumor protein 53 (P53) statuses. In addition, our haplotype analysis indicated that the haplotype C(rs1883832)G(rs4810485), which was located within the only linkage disequilibrium (LD) block identified, was a protective haplotype for breast cancer, whereas T(rs1883832)T(rs4810485) increased the risk in the studied population, even after correcting the P value for multiple testing (P?=?0.0337 and 0.0430, respectively). CONCLUSIONS AND SIGNIFICANCE: Our findings primarily show that CD40 gene polymorphisms contribute to sporadic breast cancer risk and have a significant association with clinicopathological features among Chinese Han women from the Heilongjiang Province.

Dataset Information

Association of two FOXP3 polymorphisms with breast cancer susceptibility in Chinese Han women.

Publications

Association of two <i>FOXP3</i> polymorphisms with breast cancer susceptibility in Chinese Han women.

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