The rs1940475 polymorphism in the MMP8 gene as a protective factor of severe breast cancer
Aim: to investigate an association between polymorphism in the MMP2, MMP8, MMP9 genes and severe breast cancer (BC).Materials and Methods. Retrospective comparative study was conducted by assessing a cohort of 345 BC patients: 254 patients at stage I–II and 91 at stage III–IV. Genotyping of the thre...
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IRBIS LLC
2022-09-01
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| Series: | Акушерство, гинекология и репродукция |
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| Online Access: | https://www.gynecology.su/jour/article/view/1376 |
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| author | N. V. Pavlova I. V. Ponomarenko M. I. Churnosov |
| author_facet | N. V. Pavlova I. V. Ponomarenko M. I. Churnosov |
| author_sort | N. V. Pavlova |
| collection | DOAJ |
| description | Aim: to investigate an association between polymorphism in the MMP2, MMP8, MMP9 genes and severe breast cancer (BC).Materials and Methods. Retrospective comparative study was conducted by assessing a cohort of 345 BC patients: 254 patients at stage I–II and 91 at stage III–IV. Genotyping of the three single nucleotide polymorphisms in the MMP2 (C>T rs243865), MMP8 C>T rs1940475), and ММР9 (C>T rs3918242) genes was performed. A comparative analysis of the genetic characteristics of patients with stage I–II and stage III–IV of the disease was performed.Results. The allele variant T rs1940475 (C>T) of the MMP8 gene in BC patients at stage I–II (0.512) was found by 1.2-fold more often compared with patients at stage III–IV of the disease (0.428; pperm = 0.05). According to allelic (odds ratio (OR) = 0.71; 95 % confidence interval (CI) = 0.51–1.00; pperm = 0.05) and additive (OR = 0.69; 95 % CI = 0.48–0.99; pperm = 0.05) genetic models, the allele T rs1940475 (C>T) of the MMP8 gene has protective effect for developing stage III–IV BC. The polymorphic locus rs1940475 (C>T) determines the amino acid substitution in the MMP8 protein (p.K87E) and DNA binding to the transcription factors NF-AT1, MYC and CIZ, is associated with the expression of the genes MMP27 and RP11-817J15.3 acting as an enhancer regulatory site in primary breast epithelial cells. Single nucleotide polymorphism in the MMP2 (C>T rs243865), ММР9 (C>T rs3918242) genes is not associated with severe BC (stages III–IV).Conclusion. The single nucleotide polymorphism rs1940475 in the MMP8 gene is a protective factor protecting against severe BC course. |
| format | Article |
| id | doaj-art-eb71e75bbba3437c8a2f1e9d26ea30fe |
| institution | Kabale University |
| issn | 2313-7347 2500-3194 |
| language | Russian |
| publishDate | 2022-09-01 |
| publisher | IRBIS LLC |
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| series | Акушерство, гинекология и репродукция |
| spelling | doaj-art-eb71e75bbba3437c8a2f1e9d26ea30fe2025-08-20T03:57:37ZrusIRBIS LLCАкушерство, гинекология и репродукция2313-73472500-31942022-09-0116440140910.17749/2313-7347/ob.gyn.rep.2022.334741The rs1940475 polymorphism in the MMP8 gene as a protective factor of severe breast cancerN. V. Pavlova0I. V. Ponomarenko1M. I. Churnosov2Belgorod Regional Oncological DispensaryBelgorod State National Research UniversityBelgorod State National Research UniversityAim: to investigate an association between polymorphism in the MMP2, MMP8, MMP9 genes and severe breast cancer (BC).Materials and Methods. Retrospective comparative study was conducted by assessing a cohort of 345 BC patients: 254 patients at stage I–II and 91 at stage III–IV. Genotyping of the three single nucleotide polymorphisms in the MMP2 (C>T rs243865), MMP8 C>T rs1940475), and ММР9 (C>T rs3918242) genes was performed. A comparative analysis of the genetic characteristics of patients with stage I–II and stage III–IV of the disease was performed.Results. The allele variant T rs1940475 (C>T) of the MMP8 gene in BC patients at stage I–II (0.512) was found by 1.2-fold more often compared with patients at stage III–IV of the disease (0.428; pperm = 0.05). According to allelic (odds ratio (OR) = 0.71; 95 % confidence interval (CI) = 0.51–1.00; pperm = 0.05) and additive (OR = 0.69; 95 % CI = 0.48–0.99; pperm = 0.05) genetic models, the allele T rs1940475 (C>T) of the MMP8 gene has protective effect for developing stage III–IV BC. The polymorphic locus rs1940475 (C>T) determines the amino acid substitution in the MMP8 protein (p.K87E) and DNA binding to the transcription factors NF-AT1, MYC and CIZ, is associated with the expression of the genes MMP27 and RP11-817J15.3 acting as an enhancer regulatory site in primary breast epithelial cells. Single nucleotide polymorphism in the MMP2 (C>T rs243865), ММР9 (C>T rs3918242) genes is not associated with severe BC (stages III–IV).Conclusion. The single nucleotide polymorphism rs1940475 in the MMP8 gene is a protective factor protecting against severe BC course.https://www.gynecology.su/jour/article/view/1376breast cancerbcsingle nucleotide polymorphismmmp8rs1940475associations |
| spellingShingle | N. V. Pavlova I. V. Ponomarenko M. I. Churnosov The rs1940475 polymorphism in the MMP8 gene as a protective factor of severe breast cancer Акушерство, гинекология и репродукция breast cancer bc single nucleotide polymorphism mmp8 rs1940475 associations |
| title | The rs1940475 polymorphism in the MMP8 gene as a protective factor of severe breast cancer |
| title_full | The rs1940475 polymorphism in the MMP8 gene as a protective factor of severe breast cancer |
| title_fullStr | The rs1940475 polymorphism in the MMP8 gene as a protective factor of severe breast cancer |
| title_full_unstemmed | The rs1940475 polymorphism in the MMP8 gene as a protective factor of severe breast cancer |
| title_short | The rs1940475 polymorphism in the MMP8 gene as a protective factor of severe breast cancer |
| title_sort | rs1940475 polymorphism in the mmp8 gene as a protective factor of severe breast cancer |
| topic | breast cancer bc single nucleotide polymorphism mmp8 rs1940475 associations |
| url | https://www.gynecology.su/jour/article/view/1376 |
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