Genetic selection and folate intake during pregnancy

Genetic selection and folate intake during pregnancy
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DOI:
10.1016/s0140-6736(05)79761-0
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发表时间:
1998-10-03
期刊:
影响因子:
168.9
通讯作者:
Reyes-Engel, A
Reyes-Engel, A
中科院分区:
医学1区
文献类型:
--
作者:
Muñoz-Moran, E;Dieguez-Lucena, JL;Reyes-Engel, A

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亚甲基四氢叶酸还原酶(MTHFR)基因的Ala 225 Val突变(677 C → T)与一种热不稳定酶相关,该酶活性降低,可导致血浆同型半胱氨酸浓度升高。[1]一些报道研究了这种多态性与心血管疾病以及精神分裂症、抑郁症和癌症的关系。然而,纯合子VV基因型的频率在欧洲的地理位置上不同,从北方国家的6-10%到地中海人群的13-18%。
The Ala225Val mutation (677C→ T) for the methylenetetrahydrofolate reductase (MTHFR) gene has been associated with a thermolabile enzyme with a decreased activity that can provide an increase in plasma homocysteine concentrations. 1 Several reports have studied the relation of this polymorphism with cardiovascular diseases as well as schizophrenia, depression, and cancer. The frequency of the homozygous VV genotype, however, varies geographically in Europe from 6–10% in northern countries to 13–18% in the Mediterranean population.