Metabolic effects and the methylenetetrahydrofolate reductase (MTHFR) polymorphism associated with neural tube defects in southern brazil
Metabolic effects and the methylenetetrahydrofolate reductase (MTHFR) polymorphism associated with neural tube defects in southern brazil
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DOI：
10.1002/bdra.20011
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发表时间：
2004-07-01
影响因子：
--
通讯作者：
Giugliani, R
中科院分区：
文献类型：
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作者：
Félix, TM;Leistner, S;Giugliani, R
背景：代谢因素在神经管缺陷（NTD）中的重要性一直是许多研究的焦点。一些作者提出，同型半胱氨酸代谢异常，例如高同型半胱氨酸血症、叶酸缺乏和维生素 B12 水平低，可能是造成这些畸形的原因，并且营养因素和遗传异常都与其相关。方法：我们进行了一项病例对照研究，以调查生化和遗传因素对巴西南部婴儿 NTD 的影响。对 41 对 NTD 儿童-母亲和 44 对正常儿童-母亲对照的叶酸、维生素 B12、总同型半胱氨酸 (t-Hcy) 水平以及 MTHFR 基因的 677C>T 和 1298A>C 多态性进行了分析。结果：病例组受试者的平均血叶酸水平高于对照组。 NTD 组母亲的维生素 B12 水平低于对照组母亲 (p = 0.004)。两组的 t-Hcy 水平没有差异，但 t-Hcy 和维生素 B12 相关 (p = 0.002)。病例组和对照组中 MTHFR 677C>T 和 1298A>C 多态性的基因型分布没有差异。 t-Hcy水平与677TT相关。结论：尽管本研究的样本量较小，但我们认为维生素 B12 水平低以及因此导致的高同型半胱氨酸血症是我们人群中 NTD 的重要危险因素。 (C) 2004 Wiley-Liss, Inc.
BACKGROUND: The importance of metabolic factors in neural tube defects (NTDs) has been the focus of many investigations. Several authors have suggested that abnormalities in homocysteine metabolism, such as hyperhomocysteinemia, folate deficiency, and low vitamin B12, may be responsible for these malformations and that both nutritional factors and genetic abnormalities are associated with them. METHODS: We conducted a case-control study to investigate the influence of biochemical and genetic factors in NTDs in infants in southern Brazil. Levels of folate, vitamin B12, total homocysteine (t-Hcy) and the 677C>T and 1298A>C polymorphisms of the MTHFR gene were analyzed in 41 NTD child-mother pairs and 44 normal child-mother control pairs. RESULTS: Subjects in the case group had a higher mean blood folate level than those in the control group. The level of vitamin B12 was lower in mothers in the NTD group than in control mothers (p = 0.004). The level of t-Hcy was not different in the two groups, but t-Hcy and vitamin B12 were correlated (p = 0.002). There was no difference in the genotype distribution for 677C>T and 1298A>C polymorphisms of MTHFR in the case and control pairs. The level of t-Hcy was correlated with 677TT. CONCLUSIONS: Despite the small sample in this study, we suggest that low vitamin B12 and, consequently, hyperhomocysteinemia are important risk factors for NTDs in our population. (C) 2004 Wiley-Liss, Inc.