PMID- 38433849 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20240305 IS - 1179-5549 (Print) IS - 1179-5549 (Electronic) IS - 1179-5549 (Linking) VI - 18 DP - 2024 TI - Association Between Multiple Single Nucleotide Polymorphisms in Folate Metabolism Pathway and Breast Cancer Risk in Georgian Women: A Case-Control Study. PG - 11795549241233693 LID - 10.1177/11795549241233693 [doi] LID - 11795549241233693 AB - 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. CI - (c) The Author(s) 2024. FAU - Ahmadi, Saba AU - Ahmadi S AD - Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia. FAU - Surmava, Sandro AU - Surmava S AD - Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia. FAU - Kvaratskhelia, Davit AU - Kvaratskhelia D AD - Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia. FAU - Gogolashvili, Ana AU - Gogolashvili A AD - Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia. FAU - Kvaratskhelia, Eka AU - Kvaratskhelia E AUID- ORCID: 0000-0002-1200-0230 AD - Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia. AD - V. Bakhutashvili Institute of Medical Biotechnology, Tbilisi State Medical University, Tbilisi, Georgia. FAU - Abzianidze, Elene AU - Abzianidze E AD - Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia. AD - Ivane Beritashvili Center Of Experimental Biomedicine, Tbilisi, Georgia. FAU - Kankava, Ketevani AU - Kankava K AD - Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia. LA - eng PT - Journal Article DEP - 20240229 PL - United States TA - Clin Med Insights Oncol JT - Clinical Medicine Insights. Oncology JID - 101525771 PMC - PMC10908228 OTO - NOTNLM OT - MTHFD1 OT - MTHFR OT - RT-PCR OT - breast cancer OT - proliferative activity OT - single nucleotide polymorphism COIS- The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. EDAT- 2024/03/04 06:46 MHDA- 2024/03/04 06:47 PMCR- 2024/02/29 CRDT- 2024/03/04 04:36 PHST- 2023/07/24 00:00 [received] PHST- 2024/02/01 00:00 [accepted] PHST- 2024/03/04 06:47 [medline] PHST- 2024/03/04 06:46 [pubmed] PHST- 2024/03/04 04:36 [entrez] PHST- 2024/02/29 00:00 [pmc-release] AID - 10.1177_11795549241233693 [pii] AID - 10.1177/11795549241233693 [doi] PST - epublish SO - Clin Med Insights Oncol. 2024 Feb 29;18:11795549241233693. doi: 10.1177/11795549241233693. eCollection 2024.