Houcher Bakhouche, Houcher Zahira, Touabti Abderrezak, Begag Samia, Torun Didem, Eğin Yonca, Akar Nejat, Kadour Fatima
Department of Biology, Faculty of Sciences, University of Sétif, Sétif, Algeria.
Genet Test Mol Biomarkers. 2010 Dec;14(6):775-80. doi: 10.1089/gtmb.2010.0059. Epub 2010 Oct 12.
Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) genes, involved in the intracellular metabolism of homcysteine, can result in hyperhomocysteinemia. The objective of this study was to evaluate prevalence estimates of MTHFR C677T and the CBS insertion of 68-bp (844ins68) polymorphisms among individuals with cardiovascular disease (CVD).
In total, 131 patients (61 men and 70 women) were hospitalized in the Cardiology Department in CHU of Sétif, Algeria. The control group included 147 apparently healthy adults (82 women and 65 men). The genetic analysis of the MTHFR C677T polymorphism was performed by real-time polymerase chain reaction on a Light Cycler; the CBS genotype was analyzed by polymerase chain reaction in a thermal cycler.
The frequency of the TT genotype was 16.1% in the patient group and 14.3% in the control group. The CT genotype constituted 43.5% and 40.1% in the patient group and the control group, respectively. There was no significant difference in the occurrence of the TT genotype between the studied groups. The frequency of C677T/MTHFR in male and female patients was 16.4% and 15.7% for the TT genotype, respectively. There was no significant difference in T allele frequencies between sexes. However, the frequency of C677T homozygotes in the patients was higher in men with CVD than that in corresponding control subjects (40.2% vs. 29.2%), but the difference was not statistically significant. The coexistence of the MTHFR 677TT genotype and the common CBS 844ins68 variant was lower among patients.
The MTHFR C677T and CBS 844ins68 variants tested in this study, individually or combined, are not associated with CVD in the Algerian population.
参与同型半胱氨酸细胞内代谢的亚甲基四氢叶酸还原酶（MTHFR）和胱硫醚β-合酶（CBS）基因多态性可导致高同型半胱氨酸血症。本研究的目的是评估心血管疾病（CVD）患者中亚甲基四氢叶酸还原酶C677T和胱硫醚β-合酶68碱基对插入（844ins68）多态性的流行率估计值。
总共131例患者（61例男性和70例女性）在阿尔及利亚塞蒂夫大学医院心脏病科住院。对照组包括147名明显健康的成年人（82名女性和65名男性）。采用实时聚合酶链反应在Light Cycler上对亚甲基四氢叶酸还原酶C677T多态性进行基因分析；采用聚合酶链反应在热循环仪上分析胱硫醚β-合酶基因型。
患者组TT基因型频率为16.1%，对照组为14.3%。患者组和对照组中CT基因型分别占43.5%和40.1%。研究组之间TT基因型的发生率无显著差异。男性和女性患者中亚甲基四氢叶酸还原酶C677T/TT基因型频率分别为16.4%和15.7%。性别之间T等位基因频率无显著差异。然而，CVD男性患者中亚甲基四氢叶酸还原酶C677T纯合子频率高于相应对照组（40.2%对29.2%），但差异无统计学意义。患者中亚甲基四氢叶酸还原酶677TT基因型与常见的胱硫醚β-合酶844ins68变异共存的情况较少。
本研究中检测的亚甲基四氢叶酸还原酶C677T和胱硫醚β-合酶844ins68变异，单独或联合，与阿尔及利亚人群中的心血管疾病无关。
