# Association of Methylenetetrahydrofolate Reductase (MTHFR) Polymorphism with Osteosarcoma in a Mexican Population

**Authors:** Irma G. Enriquez-Maldonado, Daniel A. Montes-Galindo, Rocio Ortiz-Lopez, Jesus Ojeda-Ibarra, Margarita L. Martinez-Fierro, Iram P. Rodriguez-Sanchez, Augusto Rojas-Martinez, Angel Zavala-Pompa, Carmen Alicia Sanchez-Ramirez, Alejandra E. Hernandez-Rangel, Karmina Sanchez-Meza, Idalia Garza-Veloz, Alejandrina Rodriguez-Hernandez, Ivan Delgado-Enciso

PMC · DOI: 10.3390/pediatric16030066 · 2024-09-09

## TL;DR

This study explores the link between a genetic variant in the MTHFR gene and the risk of osteosarcoma in a Mexican population.

## Contribution

It identifies a potential protective effect of the MTHFR 677T/T genotype against osteosarcoma in this specific population.

## Key findings

- The T/T genotype of MTHFR 677C➔T is associated with a 3.7-fold reduction in osteosarcoma risk.
- The odds ratio for the T/T genotype compared to C/T+C/C genotypes is 0.27 (95% CI 0.07–0.82).

## Abstract

The methylenetetrahydrofolate reductase (MTHFR) gene 677C➔T polymorphism is capable of altering folate metabolism and can modify certain neoplasia risk. Reports have suggested that folate can have an influence on bone development and so it is of interest to know if the MTHFR 677C➔T polymorphism is associated with the malignant transformation process of this tissue. The polymorphism was determined in 55 patients with osteosarcoma and in 180 healthy individuals. Compared with C/T+C/C genotypes, a 3.7-fold reduction in osteosarcoma probability is possible with the T/T genotype (OR 0.27, CI 95% 0.07–0.82). Undoubtedly, further studies, utilizing large samples and carried out on different populations, are necessary to confirm these results.

## Linked entities

- **Genes:** MTHFR (methylenetetrahydrofolate reductase) [NCBI Gene 4524]
- **Diseases:** osteosarcoma (MONDO:0002623)

## Full-text entities

- **Genes:** MTHFR (methylenetetrahydrofolate reductase) [NCBI Gene 4524]
- **Diseases:** Osteosarcoma (MESH:D012516), neoplasia (MESH:D009369)
- **Chemicals:** folate (MESH:D005492)
- **Species:** Homo sapiens (human, species) [taxon 9606]

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Source: https://tomesphere.com/paper/PMC11417709