不同5,10-亚甲基四氢叶酸还原酶基因型人群叶酸补服效果评价

摘要

Objective To evaluate the effects of folic acid supplement on subjects with different 5, 10-methylenetet-rahydrofolate reductase (MTHFR) genotypes. Methods One hundred and eleven healthy women were divided into CC, CT and TT groups according to their MTHFR C677T genotypes. In each group subjects were randomly sub-divided into interven-tion (400 μg/d folic acid supplement) and control (usual diet) groups. The plasma folate, red blood cell (RBC) folate and plasma homocysteine (Hcy) concentration were measured at baseline and two months after intervention. Results The plasma folate was lower and the plasma Hcy was higher in the TT genotype than those in CC or CT genotypes (P<0.05 or P<0.01). After two months of intervention, the levels of plasma folate, RBC folate concentration increased while the plasma Hcy concen-tration decreased in all three intervention groups. Although the plasma folate concentration increased the most obvious in TT genotype than that of CC and CT genotypes, P<0.05), the plasma Hcy concentration decreased the most obvious in TT geno-type than that of CT genotype, P<0.05). Logistic regression analysis showed that the MTHFR TT genotype was a risk factor of high Hcy concentration, which was 8.078 times compared with that of CC genotype (P<0.05). Conclusion Folic acid sup-plement can significantly increase plasma folate and red cell folate concentration, and reduce plasma Hcy concentration in all MTHFR genotypes. TT genotype was the most dangerous in disorder of folic metabolic and high Hcy concentration. However, low-dose folic acid supplement cannot reduce the risk of high Hcy concentration.%目的对不同5,10-亚甲基四氢叶酸还原酶（MTHFR）基因型人群叶酸补服的效果进行评价。方法根据MTHFR C677T基因型将113名健康女性分为CC、CT、TT 3组，每组内再随机分为干预组和对照组，干预组给予口服叶酸片400μg/d，服药2个月，对照组不补服叶酸。分别于基线和干预2个月后检测血浆叶酸、红细胞叶酸、血浆同型半胱氨酸（Hcy）水平。结果基线时，TT基因型血浆叶酸低于CC基因型和CT基因型，而TT基因型血浆Hcy高于CC基因型和CT基因型（P<0.05或P<0.01)。补服叶酸2个月后，干预组血浆叶酸水平和红细胞叶酸水平均不同程度的升高，血浆Hcy水平下降。其中，TT基因型的血浆叶酸上升最明显（相较于CC和CT，均P<0.05)；其血浆Hcy下降也最显著（相较于CT，P<0.05)。Logistic回归分析显示，MTHFR基因型为TT是血浆Hcy偏高的危险因素，其风险是CC型的8.078倍。结论对于3种MTHFR基因型叶酸干预均可升高血浆叶酸和红细胞叶酸，降低血浆Hcy水平。TT基因型发生叶酸代谢障碍、血浆Hcy偏高的风险最高。尚不能证实小剂量补服叶酸可以降低血浆Hcy偏高的风险。