4.3 Article

Association of MTHFR 677C>T polymorphism with breast cancer risk: A case-control study and meta-analysis

Journal

JOURNAL OF CANCER RESEARCH AND THERAPEUTICS
Volume 18, Issue 6, Pages 1451-+

Publisher

WOLTERS KLUWER MEDKNOW PUBLICATIONS
DOI: 10.4103/jcrt.JCRT_1063_20

Keywords

Breast cancer; meta-analysis; methylenetetrahydrofolate reductase; polymorphism

Categories

Funding

  1. UGC under UPE scheme
  2. DST-FIST, PURSE grant
  3. CSIR
  4. UGC under CPEPA scheme

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This study evaluated the association between MTHFR 677C>T polymorphism and breast cancer in Punjabi population, finding no risk factor in this population. The meta-analysis showed significant association in Asian population, but not in Caucasians.
Background and Objectives: Breast cancer is a complex, multifactorial disease that arises as a result of interactions between multiple genes and environmental factors. Methylenetetrahydrofolate reductase (MTHFR) is a low susceptibility gene, involved in folate metabolism. It assists in conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate which further leads to DNA methylation. 5,10-methylenetetrahydrofolate assists in conversion of uracil to thymine and purine synthesis for DNA synthesis. MTHFR 677C>T polymorphism alters the activity of MTHFR enzyme potentially effecting DNA repair and synthesis, hence a potential risk for cancer like breast cancer. Hence, the present study was conducted to evaluate association of MTHFR 677C>T polymorphism and breast cancer in Punjabi population. Moreover, a meta-analysis was conducted to address the same. Materials and Methods: A total of 247 breast cancer patients and 247 controls were selected from Punjabi population for analysis using PCR-RFLP method. For meta-analysis, 67 studies were selected, and allele contrast, homozygous, heterozygous, dominant, and recessive models were used to evaluate the association between MTHFR 677C>T and breast cancer. Results: The frequencies of CC, CT, and TT genotype were 68.4% versus 74.5%, 28.7% versus 23.5%, and 2.9% versus 2.0% in patients and controls, respectively. There was no significant difference found. In meta-analysis, significant association was found in overall and Asian population while no significant association was found in Caucasians. Interpretation and Conclusions: MTHFR 677C>T polymorphism is not a risk factor for breast cancer in Punjabi population. Inconsistency with the meta-analysis can be due to ethnic diversity.

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