Candito M, Bedoucha P, Gibelin P, Jambou D, de Franchis R, Sadoul J L, Chatel M, Van Obberghen E
Laboratoire de Biochimie, Hôpital Universitaire Pasteur, Nice, France.
J Inherit Metab Dis. 1999 Jun;22(5):588-92. doi: 10.1023/a:1005513626542.
Hyperhomocysteinaemia is an independent risk factor for cardiovascular disease. The C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) is a common genetic cause of increased homocysteine (HCY) levels. Post-methionine-load HCY concentrations allow identification of certain cases of hyperhomocysteinaemia not demonstrated by fasting levels. This study investigated the relationship between MTHFR polymorphism and (1) fasting HCY levels (77 patients); (2) post-methionine HCY levels (54 patients); and (3) postprandial HCY concentrations (36 patients) in cardiovascular disease. As expected, mean fasting HCY value was higher in the +/+ patients. Moreover, patients who were homozygous for the mutation exhibited significantly increased mean post-methionine-load HCY; in contrast, literature results are conflicting. Mean postprandial HCY, which is not known to be increased in controls, was also increased in the (+/+) patients, although the difference did not reach statistical significance, probably owing to the small size of the sample. MTFHR polymorphism is known to be aggravated by a drop in circulating folate. Additional risk factors may be more prevalent in patients with cardiovascular disease.
高同型半胱氨酸血症是心血管疾病的一个独立危险因素。亚甲基四氢叶酸还原酶（MTHFR）的C677T突变是同型半胱氨酸（HCY）水平升高的常见遗传原因。蛋氨酸负荷后HCY浓度有助于识别某些空腹水平未显示的高同型半胱氨酸血症病例。本研究调查了MTHFR基因多态性与心血管疾病患者（1）空腹HCY水平（77例患者）、（2）蛋氨酸负荷后HCY水平（54例患者）和（3）餐后HCY浓度（36例患者）之间的关系。正如预期的那样，+ / +患者的平均空腹HCY值更高。此外，该突变纯合子患者的蛋氨酸负荷后平均HCY显著升高；相比之下，文献结果存在矛盾。对照组中未知会升高的平均餐后HCY在（+ / +）患者中也升高，尽管差异未达到统计学意义，可能是由于样本量较小。已知循环叶酸水平下降会加重MTFHR基因多态性。其他危险因素在心血管疾病患者中可能更为普遍。
