Department of Medical Biology and Genetics, Karadeniz Technical University, Trabzon-Turkey.
Arch Med Res. 2011 Nov;42(8):709-12. doi: 10.1016/j.arcmed.2011.12.007. Epub 2012 Jan 2.
An association of homozygous MTHFR 677T genotypes with elevated plasma homocysteine level has been documented, but results are still controversial. We aimed to investigate prevalence of the C677T polymorphism in patients with acute myocardial infarction (MI) in the Eastern Black Sea region of Turkey.
We studied genomic DNA of 231 unrelated patients (aged 59 ± 13 years; 175 male, 56 female) with first anterior acute MI and 242 healthy controls (aged 54 ± 19 years; 182 male, 60 female) using real-time polymerase chain reaction kits for the MTHFR C677T mutation.
Prevalence of MTHFR C677T mutant genotype was 49.1% (CT: 45.8%, TT: 3.3%) in controls and 48.45% (CT: 38.5%, TT: 9.95%) in patients with acute MI. The TT mutation was more frequent in patients with acute MI than in controls (9.95 vs. 3.3%) (OR; 3.23, 95% CI; [1.34-8.05], p = 0.003).
The MTHFR gene homozygote TT mutation is a risk factor for patients with MI in the eastern Black Sea Turkish Population.
已有研究证明，同型半胱氨酸水平升高与 MTHFR 677TT 纯合基因型相关，但结果仍存在争议。本研究旨在调查土耳其东黑海地区急性心肌梗死（MI）患者中 C677T 多态性的流行情况。
我们使用实时聚合酶链反应试剂盒检测了 231 例首次急性前壁 MI 患者（年龄 59±13 岁；175 例男性，56 例女性）和 242 例健康对照者（年龄 54±19 岁；182 例男性，60 例女性）的基因组 DNA 中 MTHFR C677T 突变。
对照组中 MTHFR C677T 突变基因型的患病率为 49.1%（CT：45.8%，TT：3.3%），急性 MI 患者中为 48.45%（CT：38.5%，TT：9.95%）。急性 MI 患者中 TT 突变的频率高于对照组（9.95% vs. 3.3%）（比值比；3.23，95%置信区间；[1.34-8.05]，p=0.003）。
MTHFR 基因纯合 TT 突变是土耳其东黑海地区 MI 患者的一个危险因素。
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