5,10-Methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphisms in patients with nonsyndromic cleft lip and palate.
5,10-Methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphisms in patients with nonsyndromic cleft lip and palate.
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DOI：
10.3892/br.2020.1364
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发表时间：
2020-12
影响因子：
2.3
通讯作者：
Kawamata H
中科院分区：
文献类型：
--
作者：
Komiyama Y;Koshiji C;Yoshida W;Natsume N;Kawamata H
伴有或不伴有腭裂的唇裂 (CL/P) 被认为是一种多因素遗传性疾病。叶酸代谢被认为是 CL/P 发展的基础。 5,10-甲基四氢叶酸还原酶 (MTHFR) 基因有助于叶酸代谢，据报道，该基因 C677T (rs1801133) 和 A1298C (rs1801131) 的多态性可改变其酶活性，并被认为参与 CL/P 发育。我们研究了日本非综合征性 CL/P 和单纯腭裂 (CPO) 患者 MTHFR 基因的 C677T 和 A1298C 多态性。我们检查了 240 名 CL/P 患者、103 名患者父亲和 153 名母亲以及 68 名健康对照者。分析了 MTHFR 的 C677T 和 A1298C 的限制性片段长度多态性 (RFLP)。我们确定了患者和对照中的多态性频率，并对 MTHFR C677T 和 A1298C 进行了传递平衡测试和单倍型分析。患者和对照组之间 MTHFR C677T 和 A1298C 多态性频率没有显着差异。我们没有观察到案例之间的传递平衡或连锁平衡。在此实验条件下，我们没有检测到 MTHFR C677T 和/或 A1298C 多态性与该日本队列中 CL/P 发展的关联。
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.
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影响因子：
120.7
作者：
MILUNSKY, A;JICK, H;WILLETT, W
通讯作者：
WILLETT, W
DOI：
10.1597/14.067
发表时间：
2015-09-01
期刊：
CLEFT PALATE-CRANIOFACIAL JOURNAL
影响因子：
--
作者：
Jiang, Chanyuan;Yin, Ningbei;Song, Tao
通讯作者：
Song, Tao
影响因子：
2
作者：
Pan, Yongchu;Zhang, Weibing;Wang, Lin
通讯作者：
Wang, Lin
DOI：
10.15171/joddd.2015.020
发表时间：
2015
期刊：
Journal of dental research, dental clinics, dental prospects
影响因子：
--
作者：
Ebadifar A;Ameli N;Khorramkhorshid HR;Salehi Zeinabadi4 M;Kamali K;Khoshbakht T
通讯作者：
Khoshbakht T
DOI：
10.1002/bdra.23133
发表时间：
2013-08
影响因子：
--
作者：
Butali, Azeez;Little, Julian;Chevrier, Cecile;Cordier, Sylvian;Steegers-Theunissen, Regine;Jugessur, Astanand;Oladugba, Bola;Mossey, Peter A.
通讯作者：
Mossey, Peter A.