Association of matrix metalloproteinase gene polymorphisms with different biological subtypes of breast cancer
- 作者: Pavlova N.V.1, Ponomarenko I.V.2, Churnosov M.I.2
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隶属关系:
- Belgorod Regional Oncological Dispensary
- Belgorod State National Research University
- 期: 卷 24, 编号 5 (2022)
- 页面: 393-398
- 栏目: ORIGINAL ARTICLE
- URL: https://bakhtiniada.ru/2079-5831/article/view/109381
- DOI: https://doi.org/10.26442/20795696.2022.5.201808
- ID: 109381
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Aim. To investigate the associations of matrix metalloproteinase (MMP) MMP3 (rs679620), MMP8 (rs1940475), and MMP9 (rs17576 and rs3787268) gene polymorphisms with different biological subtypes of breast cancer (BC).
Materials and methods. The study sample consisted of 285 patients with BC of various biological subtypes (luminal A and B [n=153], triple negative [n=108], and HER2 positive [HER2+, n=24]) and 746 females in the control group. Genotyping of four polymorphic sites of MMP3 (rs679620), MMP8 (rs1940475), and MMP9 (rs17576 and rs3787268) genes was performed in the study groups.
Results. The role of MMP gene polymorphisms in the BC development of various biological subtypes differs. The c.836 A>G MMP9 polymorphism (rs17576, the odds ratio is 0.67–0.71 for the G allele) has a protective effect on the development of luminal A- and B-subtypes of BC; susceptibility to triple-negative BC is associated with the polymorphic site c.1331-163 G>A MMP9 (rs3787268, OR 4.51 for genotype AA), and two polymorphisms of the MMP3 (c.133 T>C, rs679620, OR 0.46–0.49 for T allele) and MMP8 (c.259 T>C, rs1940475, OR 0.37–0.48 for T allele) genes are associated with HER2+ BC development. According to the in silico data, the above polymorphisms have pronounced functional effects in organs and tissues that are pathogenetically significant for the disease, including the target organ, the breast.
Conclusion. The c.836 A>G MMP9 (rs17576) polymorphism is associated with luminal A- and B-subtype of BC; c.1331-163 G>A MMP9 (rs3787268) is associated with triple negative BC, and c.133 T>C MMP3 (rs679620) and c.259 T>C MMP8 (rs1940475) are involved in HER2+ BC development.
作者简介
Nadezhda Pavlova
Belgorod Regional Oncological Dispensary
Email: doc.ss@mail.ru
ORCID iD: 0000-0002-7754-5231
Department Head
俄罗斯联邦, BelgorodIrina Ponomarenko
Belgorod State National Research University
Email: ponomarenko_i@bsu.edu.ru
ORCID iD: 0000-0002-5652-0166
D. Sci. (Med.)
俄罗斯联邦, BelgorodMikhail Churnosov
Belgorod State National Research University
编辑信件的主要联系方式.
Email: churnosov@bsu.edu.ru
ORCID iD: 0000-0003-1254-6134
D. Sci. (Med.), Prof.
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