Methylenetetrahydrofolate reductase thermolabile variant and oral clefts
Methylenetetrahydrofolate reductase thermolabile variant and oral clefts
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DOI：
10.1002/(sici)1096-8628(19990903)86:1
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发表时间：
1999-09-03
期刊：
影响因子：
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通讯作者：
Scott, JM
中科院分区：
文献类型：
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作者：
Mills, JL;Kirke, PN;Scott, JM
叶酸可预防神经管缺损；在某些情况下，其机制可能是对由耐热亚甲基四氢叶酸还原酶（MTHFR）引起的代谢缺陷的纠正，这种酶在病例中发现的频率增加。目前尚不清楚叶酸是否能预防唇裂，部分原因是尚不清楚耐热性MTHFR是否在唇裂患者中更常见。本研究检查了来自爱尔兰国家支持小组的唇腭裂患者中引起耐热性MTHFR的突变（677 C- >T）的患病率，以及从爱尔兰所有新生儿筛查计划中随机选择的匿名对照组。848例对照中83例为纯合子（TT）耐热MTHFR（9.8%）。在27例孤立性腭裂患者（25.9%）中，这种缺陷的发生率几乎是前者的3倍（优势比3.23,95%可信区间1.32 ~ 7.86,P = 0.02），而在66例伴有或不伴有腭裂的唇裂患者（15.2%，优势比1.65,95%可信区间0.81 ~ 3.35,P = 0.20）中更常见。两组不同病因合并时，总优势比为2.06（95%可信区间1.16 ~ 3.66,P = 0.02）。在爱尔兰人群中，与耐热性MTHFR相关的常见叶酸相关多态性的纯合性在孤立性腭裂患者中更为常见，并且可能具有重要的病因学意义。点。中华医学杂志，2006,27(1):1- 4，出版于1999年
Folic acid can prevent neural tube defects; in some cases the mechanism is probably a correction of a metabolic defect caused by thermolabile methylenetetrahydrofolate reductase (MTHFR) found in increased frequency in cases. It is less clear whether folic acid can prevent oral clefts, in part because it is not known whether thermolabile MTHFR is more common in those with oral clefts. This study examined the prevalence of the mutation (677 C-->T) that causes thermolabile MTHFR in subjects with oral clefts from a national Irish support group, and an anonymous control group randomly selected from a neonatal screening program covering all births in Ireland. Eighty-three of 848 control subjects were homozygous (TT) thermolabile MTHFR (9.8%). This defect was almost three times as common in the 27 subjects (25.9%) with isolated cleft palate (odds ratio 3.23, 95% confidence interval 1.32 -7.86, P = 0.02) and somewhat more common in the 66 subjects with cleft lip with or without cleft palate (15.2%, odds ratio 1.65, 95% confidence interval 0.81-3.35, P = 0.20). When the two groups with different etiologies were combined, the overall odds ratio was 2.06 (95% confidence interval 1.16-3.66, P = 0.02). In the Irish population homozygosity for the common folate-related polymorphism associated with thermolabile MTHFR is significantly more frequent in those with isolated cleft palate, and could be etiologically important. Am. J, Med. Genet, 86:71-74, 1999, Published 1999 Wiley-Liss, Inc.dagger