上海市438例体检者同型半胱氨酸水平与代谢关键酶基因多态性的关联分析

发布时间：2018-05-15 02:28

本文选题：同型半胱氨酸 + 高同型半胱氨酸血症　；参考：《第二军医大学学报》2016年08期

【摘要】：目的研究上海市438例体检者的同型半胱氨酸(Hcy)水平与代谢相关酶基因多态性的关联。方法酶循环法检测上海市仁爱医院438例健康体检者的血浆总Hcy(tHcy)、电化学发光法检测叶酸,连接酶检测反应(LDR)进行基因分型。比较不同基因型的Hcy水平,并分析代谢相关酶的基因多态性与tHcy水平的关联。结果高同型半胱氨酸血症(HHcy)检出率为28.54%(125/438)。MTHFR C677T不同基因型的tHcy水平间差异有统计学意义(P0.001)。MTHFR A1298C杂合型CA降低HHcy的患病风险[OR=0.49,95%CI:(0.26,0.92),P=0.027]。MTHFR C677T杂合型CT和突变纯合型TT均增加HHcy的患病风险[OR=2.15,95%CI:(1.06,4.36),P=0.035;OR=7.58,95%CI:(3.15,18.22),P0.001]。MTR G905A、MTRR A66G、MTRR Ac.56+781C、MTR A2756G、CBSC551G并未发现与HHcy的患病风险有关联。结论 MTHFRC677T杂合型CT和突变纯合型TT是HHcy患病的风险基因型;MTHFR A1298C杂合型CA可能有助于降低HHcy风险。
[Abstract]:Objective to study the association between homocysteine (Hcy) level and metabolic enzyme gene polymorphism in 438 healthy volunteers in Shanghai. Methods the plasma total HcytHcyn, folic acid and LDR were detected by enzyme cycle method in 438 healthy people in Renai Hospital of Shanghai. The Hcy levels of different genotypes were compared and the association between gene polymorphisms of metabolism-related enzymes and tHcy levels was analyzed. Results the detection rate of 28.54%(125/438).MTHFR C677T was significantly different among tHcy levels of different genotypes. The risk of HHcy was decreased by heterozygous CA (P 0.001N. MTHFR A1298C). [OR0.49% 0.26260.92% P0.027] .MTHFR C677T heterozygous CT and mutant homozygous TT both increased the prevalence of HHcy. Risk [ORG905AMTRR A66C MTRR Ac.56 781CU MTR A2756G CBSC551G has not been found to be associated with the risk of HHcy. Conclusion MTHFRC677T heterozygous CT and mutant homozygous TT are the risk genotypes of HHcy. MTHFR A1298C heterozygous CA may help to reduce the risk of HHcy.
【作者单位】：复旦大学生命科学学院现代人类学教育部重点实验室;上海市仁爱医院检验科;
【分类号】：R440

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