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首页> 外文期刊>Biochemical Genetics >Association Between MTHFR Gene Common Variants, Serum Homocysteine, and Risk of Early-Onset Coronary Artery Disease: A Case-Control Study
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Association Between MTHFR Gene Common Variants, Serum Homocysteine, and Risk of Early-Onset Coronary Artery Disease: A Case-Control Study

机译：MTHFR基因常见变体之间的关联，血清同型胰岛素，以及早起冠状动脉疾病的风险：案例对照研究

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摘要

The common variants of the methylenetetrahydrofolate reductase (MTHFR) gene are related to the activity of the MTHFR enzyme and the concentrations of blood homocysteine (Hcy). This study was designed to investigate the associations of MTHFR in Chinese populations with early-onset coronary artery disease (EOCAD). The two common variants of the MTHFR gene were genotyped in 875 EOCAD patients and 956 controls using PCR, followed by direct sequencing of the PCR product. Serum levels of Hcy were measured using an automatic biochemistry analyzer. A significant association between the MTHFR-677C/T variant and the risk of EOCAD was detected in CC versus TT (odds ratio (OR) 1.456, 95% confidence interval (CI) 1.120-1.892), dominant genetic model (OR 1.266, 95% CI 1.027-1.546), and recessive genetic model (OR 1.306, 95% CI 1.040-1.639). Hcy was most abundant in TT genotype (18.31 +/- 7.22 mu mol/L), least abundant in CC genotype (11.37 +/- 5.23 mu mol/L), and detectable at intermediate levels in heterozygotes (15.25 +/- 6.58 mu mol/L). Elevated serum Hcy levels were an independent risk factor for EOCAD (ORadjust 1.431, 95% CI 1.135-1.763). Our findings indicated that the T allele of -677C/T MTHFR variant predisposes to high levels of Hcy, and that the T allele is an important risk factor for EOCAD in the Chinese population.
机译：甲基四乙酸甲磺酸还原酶（MTHFR）基因的常见变体与MTHFR酶的活性和血液同型血清（HCY）的浓度有关。本研究旨在探讨MTHFR在患有早期冠状动脉疾病（EoCAD）中的中国人群的关联。 MTHFR基因的两个常见变体在875名EoCAD患者中基因分型和使用PCR的956个对照，然后直接测序PCR产物。使用自动生物化学分析仪测量血清Hcy水平。 MTHFR-677C / T变体与eoCAD之间的风险在CC与TT（或）1.456，95％置信区间（CI）1.120-1.892），显性遗传模型（或1.266,95 ％CI 1.027-1.546），隐性遗传模型（或1.306,95％CI 1.040-1.639）。 Hcy在TT基因型（18.31 +/- 7.22 mm mol / l）中最丰富，CC基因型（11.37 +/-5.23μmmol/ L）最小丰富，并且在杂合子的中间水平中可检测到（15.25 +/- 6.58亩mol / l）。血清Hcy水平升高是EoCAD的独立危险因素（Oradjust 1.431,95％CI 1.135-1.763）。我们的研究结果表明，-677C / T MTHFR变异的T等位基因倾向于高水平的HCY，并且T等位基因是中国人口遗传学的重要危险因素。

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