Komiyama Yuske, Koshiji Chikako, Yoshida Waka, Natsume Nagato, Kawamata Hitoshi
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.
Biomed Rep. 2020 Dec;13(6):57. doi: 10.3892/br.2020.1364. Epub 2020 Oct 13.
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 () 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 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 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 C677T and A1298C. There were no significant differences in the frequencies of 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 C677T and/or A1298C polymorphisms with the development of CL/P in this Japanese cohort.
唇裂伴或不伴腭裂（CL/P）被认为是一种多因素遗传病。有研究表明叶酸代谢是CL/P发病的基础。5,10-亚甲基四氢叶酸还原酶（）基因参与叶酸代谢，据报道该基因在C677T（rs1801133）和A1298C（rs1801131）位点的多态性会改变其酶活性，并提示与CL/P的发生有关。我们对日本非综合征性CL/P和单纯腭裂（CPO）患者的该基因C677T和A1298C多态性进行了研究。我们检测了240例CL/P患者、103例患者的父亲和153例患者的母亲以及68名健康对照者。分析了该基因C677T和A1298C的限制性片段长度多态性（RFLP）。我们确定了患者组和对照组中多态性的频率，并对C677T和A1298C进行了传递平衡检验和单倍型分析。患者组和对照组之间C677T和A1298C多态性的频率没有显著差异。在病例组中我们未观察到传递平衡或连锁平衡。在本实验条件下，我们未检测到该日本队列中C677T和/或A1298C多态性与CL/P发生之间的关联。
