Association between TIMP-2 gene polymorphism and breast cancer in Han Chinese women
Abstract Background TIMP-2 gene plays an important role in the development of breast cancer. The present study was conducted to evaluate whether TIMP-2 gene polymorphisms are associated with breast cancer risk in a Han Chinese cohort. Methods Six single nucleotide polymorphisms (SNPs) within the TIM...
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| Format: | Article |
| Language: | English |
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BMC
2019-05-01
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| Series: | BMC Cancer |
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| Online Access: | http://link.springer.com/article/10.1186/s12885-019-5655-8 |
| _version_ | 1818996135564410880 |
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| author | Kai Wang Guanying Wang Shangke Huang Anqi Luo Xin Jing Gang Li Yi Zhou Xinhan Zhao |
| author_facet | Kai Wang Guanying Wang Shangke Huang Anqi Luo Xin Jing Gang Li Yi Zhou Xinhan Zhao |
| author_sort | Kai Wang |
| collection | DOAJ |
| description | Abstract Background TIMP-2 gene plays an important role in the development of breast cancer. The present study was conducted to evaluate whether TIMP-2 gene polymorphisms are associated with breast cancer risk in a Han Chinese cohort. Methods Six single nucleotide polymorphisms (SNPs) within the TIMP-2 gene in 571 breast cancer and 578 healthy control subjects were genotyped through the Agena MassARRAY. Logistic regression analysis was used to assess the influence of TIMP-2 polymorphisms on breast cancer. Functional annotation of TIMP-2 variants and TIMP-2 expression were analyzed by bioinformatics. Results Bioinformatics analysis found that rs4789936 was likely to affect transcription factor binding, motifs, DNase footprint, and DNase peaks; and TIMP-2 was under-expressed in breast cancer, the risk allele of rs4789936 was associated with increased expression of TIMP-2 in peripheral blood samples. Importantly, individuals carrying TIMP-2 rs2277698 T allele have a 19% lower risk of breast cancer than individuals with allele C, providing protection (OR = 0.81, 95%CI = 0.67–0.99, p = 0.041). In the breast cancer patients with c-erb positive and PR positive, when the CC genotype was used as a reference, individuals carrying the TT genotype increased the risk of breast cancer. Haplotype analysis showed “TCC” was associated with a reduced risk of breast cancer (OR = 0.79, 95%CI = 0.63–0.97, p = 0.028). Conclusion Our study indicated that TIMP-2 rs2277698 was associated with breast cancer susceptibility. |
| first_indexed | 2024-12-20T21:24:56Z |
| format | Article |
| id | doaj.art-2bd361dd841041c3a432af05a4eb7db8 |
| institution | Directory Open Access Journal |
| issn | 1471-2407 |
| language | English |
| last_indexed | 2024-12-20T21:24:56Z |
| publishDate | 2019-05-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Cancer |
| spelling | doaj.art-2bd361dd841041c3a432af05a4eb7db82022-12-21T19:26:10ZengBMCBMC Cancer1471-24072019-05-011911910.1186/s12885-019-5655-8Association between TIMP-2 gene polymorphism and breast cancer in Han Chinese womenKai Wang0Guanying Wang1Shangke Huang2Anqi Luo3Xin Jing4Gang Li5Yi Zhou6Xinhan Zhao7Department of Internal Medicine Oncology, The First Affiliated Hospital of Xi’an Jiaotong UniversityDepartment of Internal Medicine Oncology, The First Affiliated Hospital of Xi’an Jiaotong UniversityDepartment of Internal Medicine Oncology, The First Affiliated Hospital of Xi’an Jiaotong UniversityDepartment of Internal Medicine Oncology, The First Affiliated Hospital of Xi’an Jiaotong UniversityDepartment of Internal Medicine Oncology, The First Affiliated Hospital of Xi’an Jiaotong UniversityThe Second Department of Thoracic Surgery, The First Affiliated Hospital of Xi’an Jiaotong UniversityThe Center for Medical Imaging, The Hospital of Traditional Chinese Medicine of Shaanxi ProvinceDepartment of Internal Medicine Oncology, The First Affiliated Hospital of Xi’an Jiaotong UniversityAbstract Background TIMP-2 gene plays an important role in the development of breast cancer. The present study was conducted to evaluate whether TIMP-2 gene polymorphisms are associated with breast cancer risk in a Han Chinese cohort. Methods Six single nucleotide polymorphisms (SNPs) within the TIMP-2 gene in 571 breast cancer and 578 healthy control subjects were genotyped through the Agena MassARRAY. Logistic regression analysis was used to assess the influence of TIMP-2 polymorphisms on breast cancer. Functional annotation of TIMP-2 variants and TIMP-2 expression were analyzed by bioinformatics. Results Bioinformatics analysis found that rs4789936 was likely to affect transcription factor binding, motifs, DNase footprint, and DNase peaks; and TIMP-2 was under-expressed in breast cancer, the risk allele of rs4789936 was associated with increased expression of TIMP-2 in peripheral blood samples. Importantly, individuals carrying TIMP-2 rs2277698 T allele have a 19% lower risk of breast cancer than individuals with allele C, providing protection (OR = 0.81, 95%CI = 0.67–0.99, p = 0.041). In the breast cancer patients with c-erb positive and PR positive, when the CC genotype was used as a reference, individuals carrying the TT genotype increased the risk of breast cancer. Haplotype analysis showed “TCC” was associated with a reduced risk of breast cancer (OR = 0.79, 95%CI = 0.63–0.97, p = 0.028). Conclusion Our study indicated that TIMP-2 rs2277698 was associated with breast cancer susceptibility.http://link.springer.com/article/10.1186/s12885-019-5655-8Breast cancerTIMP-2Gene polymorphismCase-control study |
| spellingShingle | Kai Wang Guanying Wang Shangke Huang Anqi Luo Xin Jing Gang Li Yi Zhou Xinhan Zhao Association between TIMP-2 gene polymorphism and breast cancer in Han Chinese women BMC Cancer Breast cancer TIMP-2 Gene polymorphism Case-control study |
| title | Association between TIMP-2 gene polymorphism and breast cancer in Han Chinese women |
| title_full | Association between TIMP-2 gene polymorphism and breast cancer in Han Chinese women |
| title_fullStr | Association between TIMP-2 gene polymorphism and breast cancer in Han Chinese women |
| title_full_unstemmed | Association between TIMP-2 gene polymorphism and breast cancer in Han Chinese women |
| title_short | Association between TIMP-2 gene polymorphism and breast cancer in Han Chinese women |
| title_sort | association between timp 2 gene polymorphism and breast cancer in han chinese women |
| topic | Breast cancer TIMP-2 Gene polymorphism Case-control study |
| url | http://link.springer.com/article/10.1186/s12885-019-5655-8 |
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