Kerkeni Mohsen, Addad Faouzi, Chauffert Maryline, Myara Anne, Gerhardt Marie, Chevenne Didier, Trivin François, Farhat Mohamed Ben, Miled Abdelhedi, Maaroufi Khira
Research Unit 03/UR/08-14, Faculty of Pharmacy, Monastir, Tunisia.
Ann Clin Biochem. 2006 May;43(Pt 3):200-6. doi: 10.1258/000456306776865232.
Hyperhomocysteinaemia is an independent, graded risk factor for coronary artery disease (CAD). The methylenetetrahydrofolate reductase (MTHFR) polymorphism is associated with hyperhomcysteinaemia and may therefore influence individual susceptibility to CAD. We have investigated this risk factor in a Tunisian Arab population.
Polymerase chain reaction-restriction fragment length polymorphism analysis was used to detect the C677T and A1298C variants of the MTHFR gene in 100 patients with CAD and 120 healthy controls. The severity of CAD was expressed as the number of affected vessels. Plasma total homocysteine (tHcy) concentration was determined using a direct chemiluminescence assay.
MTHFR CC, CT and TT genotype frequencies in the CAD group were significantly different from those observed in the control group (49%, 35% and 16% versus 48.3%, 45.8% and 5.8%, respectively; P = 0.031). However, MTHFR AA, AC and CC genotypes frequencies in the CAD group were not significantly different from the control group ( P = 0.568). Patients with CAD showed higher plasma tHcy concentrations than patients without CAD (15.86 +/- 8.63 micromol/L versus 11.90 +/- 3.25 micromol/L, P < 0.001). There was no association between the MTHFR polymorphisms and the number of stenosed vessels. Patients with the MTHFR TT genotype had higher plasma tHcy, serum creatinine, cholesterol and triglyceride concentrations than patients with the MTHFR CC genotype.
The C677T polymorphism of the MTHFR gene is associated with hyperhomocysteinaemia, lipid dysregulation and the presence of CAD in this Tunisian Arab population.
高同型半胱氨酸血症是冠状动脉疾病（CAD）的一个独立的、分级的风险因素。亚甲基四氢叶酸还原酶（MTHFR）基因多态性与高同型半胱氨酸血症相关，因此可能影响个体对CAD的易感性。我们在突尼斯阿拉伯人群中对这一风险因素进行了研究。
采用聚合酶链反应-限制性片段长度多态性分析检测100例CAD患者和120例健康对照者MTHFR基因的C677T和A1298C变异。CAD的严重程度用受累血管数量表示。采用直接化学发光法测定血浆总同型半胱氨酸（tHcy）浓度。
CAD组中MTHFR基因CC、CT和TT基因型频率与对照组显著不同（分别为49%、35%和16%，而对照组分别为48.3%、45.8%和5.8%；P = 0.031）。然而，CAD组中MTHFR基因AA、AC和CC基因型频率与对照组无显著差异（P = 0.568）。CAD患者的血浆tHcy浓度高于无CAD患者（15.86±8.63 μmol/L对11.90±3.25 μmol/L，P < 0.001）。MTHFR基因多态性与狭窄血管数量之间无关联。MTHFR基因TT基因型患者的血浆tHcy、血清肌酐、胆固醇和甘油三酯浓度高于MTHFR基因CC基因型患者。
在这一突尼斯阿拉伯人群中，MTHFR基因的C677T多态性与高同型半胱氨酸血症、脂质代谢紊乱及CAD的存在相关。
