Association Between Multiple Single Nucleotide Polymorphisms in Folate Metabolism Pathway and Breast Cancer Risk in Georgian Women: A Case-Control Study
Background: The folate metabolism pathway plays an integral part in DNA synthesis, methylation, and repair. Methylenetetrahydrofolate reductase (MTHFR) and methylenetetrahydrofolate dehydrogenase (MTHFD1) are both enzymes that are involved in this pathway, and the single nucleotide polymorphisms (SN...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2024-02-01
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| Series: | Clinical Medicine Insights: Oncology |
| Online Access: | https://doi.org/10.1177/11795549241233693 |
| _version_ | 1797289110691381248 |
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| author | Saba Ahmadi Sandro Surmava Davit Kvaratskhelia Ana Gogolashvili Eka Kvaratskhelia Elene Abzianidze Ketevani Kankava |
| author_facet | Saba Ahmadi Sandro Surmava Davit Kvaratskhelia Ana Gogolashvili Eka Kvaratskhelia Elene Abzianidze Ketevani Kankava |
| author_sort | Saba Ahmadi |
| collection | DOAJ |
| description | Background: The folate metabolism pathway plays an integral part in DNA synthesis, methylation, and repair. Methylenetetrahydrofolate reductase (MTHFR) and methylenetetrahydrofolate dehydrogenase (MTHFD1) are both enzymes that are involved in this pathway, and the single nucleotide polymorphisms (SNPs) in genes coding for them have modulatory effects on DNA expression. This study aimed to investigate the relationship between MTHFR C677T (rs1801133) and MTHFD1 G1958A (rs2236225) polymorphisms and the risk of developing breast cancer in Georgian women. Methods: A case-control study was performed examining the MTHFR C677T and MTHFD1 G1958A SNP in breast cancer–confirmed cases and healthy matched controls. Real time-polymerase chain reaction (PCR) was used to genotype SNPs. The case individuals’ pathology reports were obtained following surgeries for cancer characteristic data. Statistical analysis was performed to investigate the significance of the acquired data. Results: Statistical analysis of MTHFR C677T SNP revealed that the CT genotype increased the risk of breast cancer by 2.17 folds in the over-dominant model. Statistical analysis of MTHFD1 G1958A SNP showed that the GA genotype increased the risk of breast cancer by 4.12 folds in the codominant model and 2.41 folds in the over-dominant model. No statistically significant link was found between genotypes and lymph node status, however, patients with the CT genotype had higher percentages of proliferative activity. Conclusions: Breast cancer seems to have a statistically significant association with the CT genotype in MTHFR C677T and the GA genotype in MTHFD1 G1958A in Georgian women. |
| first_indexed | 2024-03-07T18:59:23Z |
| format | Article |
| id | doaj.art-5b3a324fe8204789952bb17df852e95b |
| institution | Directory Open Access Journal |
| issn | 1179-5549 |
| language | English |
| last_indexed | 2024-03-07T18:59:23Z |
| publishDate | 2024-02-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Clinical Medicine Insights: Oncology |
| spelling | doaj.art-5b3a324fe8204789952bb17df852e95b2024-03-01T19:03:19ZengSAGE PublishingClinical Medicine Insights: Oncology1179-55492024-02-011810.1177/11795549241233693Association Between Multiple Single Nucleotide Polymorphisms in Folate Metabolism Pathway and Breast Cancer Risk in Georgian Women: A Case-Control StudySaba Ahmadi0Sandro Surmava1Davit Kvaratskhelia2Ana Gogolashvili3Eka Kvaratskhelia4Elene Abzianidze5Ketevani Kankava6Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, GeorgiaDepartment of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, GeorgiaDepartment of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, GeorgiaDepartment of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, GeorgiaV. Bakhutashvili Institute of Medical Biotechnology, Tbilisi State Medical University, Tbilisi, GeorgiaIvane Beritashvili Center Of Experimental Biomedicine, Tbilisi, GeorgiaDepartment of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, GeorgiaBackground: The folate metabolism pathway plays an integral part in DNA synthesis, methylation, and repair. Methylenetetrahydrofolate reductase (MTHFR) and methylenetetrahydrofolate dehydrogenase (MTHFD1) are both enzymes that are involved in this pathway, and the single nucleotide polymorphisms (SNPs) in genes coding for them have modulatory effects on DNA expression. This study aimed to investigate the relationship between MTHFR C677T (rs1801133) and MTHFD1 G1958A (rs2236225) polymorphisms and the risk of developing breast cancer in Georgian women. Methods: A case-control study was performed examining the MTHFR C677T and MTHFD1 G1958A SNP in breast cancer–confirmed cases and healthy matched controls. Real time-polymerase chain reaction (PCR) was used to genotype SNPs. The case individuals’ pathology reports were obtained following surgeries for cancer characteristic data. Statistical analysis was performed to investigate the significance of the acquired data. Results: Statistical analysis of MTHFR C677T SNP revealed that the CT genotype increased the risk of breast cancer by 2.17 folds in the over-dominant model. Statistical analysis of MTHFD1 G1958A SNP showed that the GA genotype increased the risk of breast cancer by 4.12 folds in the codominant model and 2.41 folds in the over-dominant model. No statistically significant link was found between genotypes and lymph node status, however, patients with the CT genotype had higher percentages of proliferative activity. Conclusions: Breast cancer seems to have a statistically significant association with the CT genotype in MTHFR C677T and the GA genotype in MTHFD1 G1958A in Georgian women.https://doi.org/10.1177/11795549241233693 |
| spellingShingle | Saba Ahmadi Sandro Surmava Davit Kvaratskhelia Ana Gogolashvili Eka Kvaratskhelia Elene Abzianidze Ketevani Kankava Association Between Multiple Single Nucleotide Polymorphisms in Folate Metabolism Pathway and Breast Cancer Risk in Georgian Women: A Case-Control Study Clinical Medicine Insights: Oncology |
| title | Association Between Multiple Single Nucleotide Polymorphisms in Folate Metabolism Pathway and Breast Cancer Risk in Georgian Women: A Case-Control Study |
| title_full | Association Between Multiple Single Nucleotide Polymorphisms in Folate Metabolism Pathway and Breast Cancer Risk in Georgian Women: A Case-Control Study |
| title_fullStr | Association Between Multiple Single Nucleotide Polymorphisms in Folate Metabolism Pathway and Breast Cancer Risk in Georgian Women: A Case-Control Study |
| title_full_unstemmed | Association Between Multiple Single Nucleotide Polymorphisms in Folate Metabolism Pathway and Breast Cancer Risk in Georgian Women: A Case-Control Study |
| title_short | Association Between Multiple Single Nucleotide Polymorphisms in Folate Metabolism Pathway and Breast Cancer Risk in Georgian Women: A Case-Control Study |
| title_sort | association between multiple single nucleotide polymorphisms in folate metabolism pathway and breast cancer risk in georgian women a case control study |
| url | https://doi.org/10.1177/11795549241233693 |
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