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首页> 外文期刊>Genetic testing and molecular biomarkers >Single Nucleotide Polymorphisms in Key One-Carbon Metabolism Genes and Their Association with Blood Folate and Homocysteine Levels in a Chinese Population in Yunnan
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Single Nucleotide Polymorphisms in Key One-Carbon Metabolism Genes and Their Association with Blood Folate and Homocysteine Levels in a Chinese Population in Yunnan

机译：单核苷酸多态性在一个碳的关键代谢基因及其与血叶酸和同型半胱氨酸水平在中国云南人口

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摘要

Objective: One-carbon metabolism (OCM) is essential for DNA synthesis and methylation. Single nucleotide polymorphisms (SNPs) within OCM genes may affect folic acid (FA) metabolism, disrupt homocysteine (Hcy) homeostasis, and increase the risk of disease. This study investigated the relationship between SNPs in key OCM genes and their association with blood FA and Hcy levels in a healthy population in Yunnan, China. Methods: Six SNPs within five key OCM genes (MTHFR C677T, MTHFR A1298C, MS A2756G, MTRR A66G, CBS T833C, and SHMT C1420T) were genotyped in 300 healthy volunteers (148 males and 152 females) using polymerase chain reaction/restriction fragment length polymorphism. Blood folate [serum FA (SFA) and red blood cell folate (RBC FA)] and Hcy levels were determined by chemiluminescence immunoassays and enzymatic assays. Results: Subjects with the MTHFR 677TT genotype had significantly higher Hcy levels and RBC FA concentrations compared with those harboring the MTHFR 677CC/CT genotypes (p0.01). Both Hcy and blood FA concentrations were also increased in subjects with MS 2756AA, as well as those within CBS 833TT, when compared with those with MS 2756AG/GG (p0.05) and CBS 833TC/CC (p0.05) genotypes, respectively. Subjects harboring the combined genotype of MTHFR 677TT and MS 2756AA had a higher Hcy concentration than those carrying other MTHFR and MS combinations (p=0.002). Similarly, subjects harboring the combination of CBS 833TT with MTHFR 677TT had higher Hcy concentrations than those harboring other CBS and MTHFR combinations (p=0.011). Conclusions: The genotypes involving the MTHFR C677T, MS A2756G, and CBS T833C polymorphisms, including combinations of these genotypes, were the most important factors associated with blood FA and Hcy levels of the investigated SNPs in the OCM genes.
机译：目的:一个碳代谢(OCM)对于DNA合成和甲基化。单核苷酸多态性(SNPs) OCM之内基因可能会影响叶酸(FA)的新陈代谢,破坏同型半胱氨酸(Hcy)体内平衡增加疾病的风险。研究单核苷酸多态性在关键的关系OCM基因及其与血FA和协会Hcy水平在一个健康的人口在云南,中国基因(MTHFR C677T, MTHFR A1298C, A2756G女士MTRRA66G, CBS T833C SHMT C1420T)基因分型在300名健康志愿者(148男性和152使用聚合酶链雌性)反应/限制片段长度多态性。红细胞叶酸(RBC FA)]和Hcy水平测定化学发光免疫测定和酶化验。MTHFR Hcy高出677 tt基因型明显水平和红细胞与足总浓度那些窝藏MTHFR 677 cc / CT基因型术中,0.01)。也增加了受试者2756 aa,女士以及那些在哥伦比亚广播公司(CBS) 833 tt,相比与2756 ag / GG女士(术中,0.05)和哥伦比亚广播公司(CBS)833 tc / CC(术中;0.05)基因型,分别。窝藏MTHFR基因型相结合的主题677 tt和女士2756 aa Hcy较高浓度比其它MTHFR和携带女士组合(p = 0.002)。窝藏CBS 833 tt MTHFR的结合677 tt高Hcy浓度比窝藏其他CBS和MTHFR的组合(p = 0.011)。的MTHFR C677T A2756G女士,CBS T833C多态性,包括这些的组合基因型,是最重要的因素与血液FA和Hcy水平有关调查OCM基因单核苷酸多态性。

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