叶酸循环基因Snp等位基因不同组合引起的同型半胱氨酸水平波动是妊娠违规过程中的一个因素

E. Komlichenko, Y. Fedotov, M. A. Uvarova, A. Ivanov
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引用次数: 1

摘要

叶酸循环基因单核苷酸多态性病理性等位基因的存在是习惯性流产、先兆子痫等女性生殖系统侵害因素之一。这种遗传易感性的实现机制是高同型半胱氨酸血症-血液中同型半胱氨酸水平升高。本研究旨在探讨MTHFR基因的C677T和A1298C、MTR基因的A2756G和MTRR基因的A66G这3个叶酸循环基因的4个snp基因型与妊娠受损妇女血液中同型半胱氨酸水平的关系。结果没有发现直接相关,但发现所研究的SNP的病理等位基因的存在与同型半胱氨酸水平随时间波动的均方差(σ)之间存在统计学上显著的相关性。由于MTHFR基因C677T多态性,病理状态为纯合子的TT女性同型半胱氨酸血水平波动σ值比正常纯合子的CC女性高4倍,尤其对存在叶酸周期基因病理等位基因的女性监测同型半胱氨酸血水平具有重要的临床意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The Fluctuations in Homocysteine Level Caused by Various Combinations of Folic Acid Cycle Genes Snp Alleles as a Factor in the Course of Pregnancy Violation
The presence of pathological alleles of single nucleotide polymorphisms (SNP) of the folic acid cycle genes is one of the female reproductive system violation factors including habitual miscarriage and pre-eclampsia. The realizing mechanism for this genetic predisposition is hyperhomocysteinemia-homocysteine level increasing in the blood. This study presenting an attempt to find the relationship between the genotype for the four SNPs of the three folate cycle genes - C677T and A1298C of the MTHFR gene, A2756G of the MTR gene and the A66G of the MTRR gene and the homocysteine level in the blood of women with impaired pregnancy. As a result no direct correlation was found but it was found a statistically significant interlation between the presence of pathological alleles of the studied SNP and the mean square deviation (σ) of the homocysteine level fluctuations over time. For the polymorphism C677T of the MTHFR gene σ of the homocysteine blood level fluctuation is increased up to four times in women with a homozygous pathological state TT compared with the normal homozygotes CC. The clinical importance of monitoring the homocysteine blood level has been shown especially for women with folate cycle genes pathological alleles’ presence.
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