短期叶酸补充后，叶酸代谢相关基因多态性对健康受试者血清叶酸和血浆总同型半胱氨酸（p-tHcy）浓度的影响：一项随机、双盲、交叉研究。
Effect of genetic polymorphisms involved in folate metabolism on the concentration of serum folate and plasma total homocysteine (p-tHcy) in healthy subjects after short-term folic acid supplementation: a randomized, double blind, crossover study.
机构信息
Department of Natural Sciences, University of Agder, Kristiansand, Norway.
出版信息
Genes Nutr. 2015 May;10(3):456. doi: 10.1007/s12263-015-0456-4. Epub 2015 Mar 11.
Data on the effect of combined genetic polymorphisms, involved in folate metabolism, on the concentration of serum folate after folic acid supplementation are scarce. Therefore, we investigated the impact of seven gene polymorphisms on the concentration of serum folate and p-tHcy in healthy subjects after short-term folic acid supplementation. In a randomized, double blind, crossover study, apparently healthy subjects were given either 0.8 mg folic acid per day (n = 46) or placebo (n = 45) for 14 days. The washout period was 14 days. Fasting blood samples were collected on day 1, 15, 30 and 45. Data on subjects on folic acid supplementation (n = 91) and on placebo (n = 45) were used for the statistical analysis. The concentration of serum folate increased higher in subjects with higher age (53.5 ± 7.0 years) than in subjects with lower age (24.3 ± 3.2 years) after folic acid supplementation (p = 0.006). The baseline concentration of serum folate in subjects with polymorphism combination, reduced folate carrier protein, RFC1-80 GA and methylenetetrahydrofolate reductase, MTHFR677 CT+TT, was lower than RFC1-80 AA and MTHFR677 CT+TT (p = 0.002). After folic acid supplementation, a higher increase in the concentration of serum folate was detected in subjects with polymorphism combination RFC1-80 GA and MTHFR677 CC than RFC1-80 GG and MTHFR CT+TT combination (p < 0.0001). The baseline concentration of plasma total homocysteine (p-tHcy) was altered by combined polymorphisms in genes associated with folate metabolism. After folic acid supplementation, in subjects with combined polymorphisms in methylenetetrahydrofolate dehydrogenase, MTHFD1-1958 and MTHFR-677 genes, the concentration of p-tHcy was changed (p = 0.002). The combination of RFC1-80 and MTHFR-677 polymorphisms had a profound affect on the concentration of serum folate in healthy subjects before and after folic acid supplementation.
关于参与叶酸代谢的联合遗传多态性对叶酸补充后血清叶酸浓度的影响的数据很少。因此，我们研究了 7 个基因多态性对短期叶酸补充后健康受试者血清叶酸和 p-tHcy 浓度的影响。在一项随机、双盲、交叉研究中，46 名健康受试者每天服用 0.8mg 叶酸（n=46）或安慰剂（n=45），14 天为一个疗程。洗脱期为 14 天。在第 1、15、30 和 45 天采集禁食血样。对接受叶酸补充的受试者（n=91）和接受安慰剂的受试者（n=45）的数据进行了统计学分析。叶酸补充后，年龄较高（53.5±7.0 岁）的受试者血清叶酸浓度高于年龄较低（24.3±3.2 岁）的受试者（p=0.006）。叶酸代谢相关的多态性组合、还原叶酸载体蛋白、RFC1-80GA 和亚甲基四氢叶酸还原酶、MTHFR677CT+TT 的受试者，其基线血清叶酸浓度低于 RFC1-80AA 和 MTHFR677CT+TT（p=0.002）。叶酸补充后，RFC1-80GA 和 MTHFR677CC 多态性组合的受试者血清叶酸浓度升高幅度高于 RFC1-80GG 和 MTHFR CT+TT 组合（p<0.0001）。与叶酸代谢相关的基因多态性组合改变了血浆总同型半胱氨酸（p-tHcy）的基线浓度。叶酸补充后，亚甲基四氢叶酸脱氢酶、MTHFD1-1958 和 MTHFR-677 基因联合多态性的受试者 p-tHcy 浓度发生改变（p=0.002）。RFC1-80 和 MTHFR-677 多态性组合对叶酸补充前后健康受试者血清叶酸浓度有显著影响。
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