Analysis of the MTHFR 1298A → C and 677C → T polymorphisms as risk factors for neural tube defects
Analysis of the MTHFR 1298A → C and 677C → T polymorphisms as risk factors for neural tube defects
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DOI：
10.1007/s10038-003-0008-4
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发表时间：
2003-01-01
影响因子：
3.5
通讯作者：
Bródy, LC
中科院分区：
文献类型：
--
作者：
Parle-McDermott, A;Mills, JL;Bródy, LC
亚甲基四氢叶酸还原酶（MTHFR）的不耐热变体（677 TT）是神经管缺陷（NTD）的已知危险因素。第二种MTHFR多态性（1298 A--> C）与NTD风险之间的关系在不同研究之间并不一致。我们对276个完整的NTD三联体（母亲、父亲和患有NTD的孩子）和256个对照进行了MTHFR 1298 A--> C基因分型。我们的研究结果不支持1298 A--> C多态性在NTD中的作用（OR 0.85（95%CI 0.49-1.47），p = 0.55），我们也没有观察到677 C--> T多态性的联合作用。
The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs). The relationship between a second MTHFR polymorphism (1298A --> C) and NTD risk has been inconsistent between studies. We genotyped 276 complete NTD triads (mother, father and child affected with an NTD) and 256 controls for MTHFR 1298A --> C. Our findings do not support a role for the 1298A --> C polymorphism in NTDs (OR 0.85 (95% CI 0.49-1.47), p = 0.55), nor do we observe a combined effect with the 677C --> T polymorphism.