5,10‑Methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphisms in patients with nonsyndromic cleft lip and palate
- Yuske Komiyama
- Chikako Koshiji
- Waka Yoshida
- Nagato Natsume
- Hitoshi Kawamata
Affiliations: Department of Oral and Maxillofacial Surgery, Dokkyo Medical University School of Medicine, Mibu, Tochigi 321‑0293, Japan, Department of Oral Pathology, School of Dentistry, Aichi‑Gakuin University, Nagoya, Aichi 464‑8650, Japan, Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi‑Gakuin University, Nagoya, Aichi 464‑8650, Japan
- Published online on: October 13, 2020 https://doi.org/10.3892/br.2020.1364
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Cleft lip with or without cleft palate (CL/P) is considered a multifactorial genetic disorder. Folic acid metabolism has been suggested to underlie the development of CL/P. The gene for the enzyme 5,10‑methylentetrahydrofolate reductase (MTHFR) contributes to folic acid metabolism, and polymorphisms of this gene at C677T (rs1801133) and A1298C (rs1801131) are reported to alter its enzyme activity and are suggested to be involved in CL/P development. We investigated C677T and A1298C polymorphisms of the MTHFR gene in Japanese patients with nonsyndromic CL/P and cleft palate only (CPO). We examined 240 patients with CL/P, 103 fathers and 153 mothers of the patients, and 68 healthy controls. Restriction fragment length polymorphisms (RFLPs) of C677T and A1298C of MTHFR were analyzed. We determined the frequencies of the polymorphisms in the patients and controls and performed a transmission equilibrium test and haplotype analysis of both MTHFR C677T and A1298C. There were no significant differences in the frequencies of MTHFR C677T and A1298C polymorphisms between the patients and controls. We did not observe transmission equilibrium or linkage equilibrium among the cases. In this experimental condition, we did not detect an association of MTHFR C677T and/or A1298C polymorphisms with the development of CL/P in this Japanese cohort.