A common mutation in methylenetetrahydrofolate reductase gene among the Japanese population
A common mutation in methylenetetrahydrofolate reductase gene among the Japanese population
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DOI：
10.1007/bf01875985
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发表时间：
1996-06-01
期刊：
影响因子：
--
通讯作者：
Sumino, K
中科院分区：
文献类型：
--
作者：
Nishio, H;Lee, MJ;Sumino, K
高同型半胱氨酸血症已被报道为动脉粥样硬化性脑血管和冠心病的独立危险因素。5，10-亚甲基四氢叶酸还原酶(MTHFR)是引起高同型半胱氨酸血症的酶之一。MTHFR基因第677位C-T突变导致酶活性降低，血浆同型半胱氨酸水平升高。我们研究了MTHFR基因突变在日本人群中的分布。受试者为129名日本男性(年龄40-59岁)。该突变的等位基因频率为0.38，三种基因型的频率分别为：+/+，11%；+/-，54%；-/-，35%(+和-分别代表突变的存在和不存在)。我们还研究了MTHFR基因突变在日本中年男性高血压患者中的频率，以探讨该突变与原发性高血压有关的可能性。正常血压组和高血压组的突变等位基因分布和三种基因频率相同。尽管纯合子突变组的平均舒张压显著高于其他组，但各基因型组的高血压患病率是相同的。
Hyperhomocysteinemia has been reported as an independent risk factor for atherosclerotic cerebrovascular and coronary heart diseases. 5,10-Methylenetetrahydrofolate reductase (MTHFR) is one of the enzymes responsible for hyperhomocysteinemia. The C to T transition of the MTHFR gene at nucleotide position 677 results in decreasing the enzymatic activity and increasing the plasma homocysteine level. We studied the distribution of the MTHFR gene mutation among the Japanese population. The subjects were 129 Japanese males (aged 40-59 years). The allele frequency of the mutation was 0.38, The frequencies of the three genotypes were as follows: +/+, 11%; +/-, 54%; -/-, 35% (+ and - indicate the presence and absence of the mutation, respectively). We also studied the frequency of the MTHFR gene mutation in the middle-aged Japanese males with hypertension to investigate the possibility that this mutation is related to essential hypertension. The normotensive and hypertensive subjects were identical in the distribution of the mutated allele and the frequencies of the three genotypes. Furthermore, the prevalence of hypertension in each genotype group was same, although the mean diastolic pressure of the group with homozygous mutation was significantly higher than that of other groups (p