Ho C H
Division of Hematology, Veterans General Hospital, Taipei, Taiwan, ROC.
Haematologica. 2000 Oct;85(10):1051-4.
Thromboembolic diseases remain a major cause of morbidity and mortality in most countries. The present study was thus conducted to determine the influences of age, sex, the methylenetetrahydrofolate reductase (MTHFR) gene mutation and the B vitamins on the plasma homocysteine (Hcy) levels in the Chinese. Our previous study found that Chinese carry the same mutation of the methylenetetrahydrofolate reductase (MTHFR) gene described in Western populations, with a 677CAET substitution being another possible cause of thrombosis.
The study population comprised 445 consecutively enrolled Chinese subjects of different ages and sex. Overall 69 subjects were found to have homozygous 677CAET mutation of the MTHFR gene, and were classified as Group I; 164 subjects were found to have heterozygous mutation and classified as Group II; 212 had no such mutation and were classified as Group III.
The mean plasma Hcy did not differ significantly between these 3 groups. When each group was divided again by gender, we found that both age and plasma Hcy levels were significantly higher in the males than in the females. In addition to Hcy levels, we also measured plasma vitamin B(12) and folate levels in 258 randomized subjects. Univariate and multivariate analysis showed MTHFR mutation could affect Hcy level, and univariate and multivariate analysis showed that age, MTHFR mutation and vitamin B(12) could affect the log(Hcy) levels.
We demonstrate that some Chinese carry the 677CAET mutation of the methylenetetrahydrofolate reductase gene. This could affect their homocysteine levels and thus be a risk factor for thromboembolic disease.
在大多数国家,血栓栓塞性疾病仍是发病和死亡的主要原因。因此,本研究旨在确定年龄、性别、亚甲基四氢叶酸还原酶(MTHFR)基因突变以及B族维生素对中国人血浆同型半胱氨酸(Hcy)水平的影响。我们之前的研究发现,中国人携带与西方人群中描述的相同的亚甲基四氢叶酸还原酶(MTHFR)基因突变,677C→A(E)T替代是血栓形成的另一个可能原因。
研究人群包括445名不同年龄和性别的连续入组的中国人。总体上,69名受试者被发现具有MTHFR基因的纯合677C→A(E)T突变,被归为I组;164名受试者被发现具有杂合突变,归为II组;212名受试者没有这种突变,归为III组。
这三组之间的平均血浆Hcy没有显著差异。当每组再按性别划分时,我们发现男性的年龄和血浆Hcy水平均显著高于女性。除了Hcy水平,我们还在258名随机受试者中测量了血浆维生素B12和叶酸水平。单因素和多因素分析表明MTHFR突变可影响Hcy水平,单因素和多因素分析还表明年龄、MTHFR突变和维生素B12可影响log(Hcy)水平。
我们证明一些中国人携带亚甲基四氢叶酸还原酶基因的677C→A(E)T突变。这可能会影响他们的同型半胱氨酸水平,从而成为血栓栓塞性疾病的一个危险因素。