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中国北方人群中 MTHFR 多态性与脑膜瘤的关联研究。

Association study on MTHFR polymorphisms and meningioma in northern China.

机构信息

The Third Ward of Neurosurgery, the Second Affiliated Hospital of Harbin Medical University, Harbin 150086, China.

出版信息

Gene. 2013 Mar 10;516(2):291-3. doi: 10.1016/j.gene.2012.12.019. Epub 2012 Dec 28.

DOI:10.1016/j.gene.2012.12.019
PMID:23276705
Abstract

BACKGROUND

Meningioma is the second most common primary tumor of the central nervous system, and multiple genetic and environmental factors contribute to its etiology. Methylene tetrahydrofolate reductase (MTHFR) is a pivotal enzyme in folate metabolism. We conducted a case-control study to investigate the association of the MTHFR gene and meningioma in a Han population in northern China.

METHODS

We genotyped two SNPs (C677T and A1298C) using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). In this study 317 meningioma patients were compared to 320 normal controls. Data were analyzed by SPSS 13.0 and HaploView software.

RESULTS

We found a significant difference in the frequency distribution of 677CC and 677TT between cases and control groups; another SNP exhibited no differences in any genotype between the two cohorts.

CONCLUSION

The results revealed that variations of the MTHFR gene were associated with meningioma; this finding indicates that the MTHFR gene potentially plays an important role in the pathogenesis of meningioma in the Northern Chinese Han population.

摘要

背景

脑膜瘤是中枢神经系统中第二常见的原发性肿瘤,多种遗传和环境因素促成了其病因。亚甲基四氢叶酸还原酶(MTHFR)是叶酸代谢中的关键酶。我们进行了一项病例对照研究,以调查中国北方汉族人群中 MTHFR 基因与脑膜瘤的关联。

方法

我们使用聚合酶链反应限制性片段长度多态性(PCR-RFLP)对两个 SNP(C677T 和 A1298C)进行了基因分型。在这项研究中,将 317 例脑膜瘤患者与 320 例正常对照进行了比较。数据采用 SPSS 13.0 和 HaploView 软件进行分析。

结果

我们发现病例组和对照组之间 677CC 和 677TT 的频率分布存在显著差异;另一个 SNP 在两组之间任何基因型均无差异。

结论

结果表明,MTHFR 基因的变异与脑膜瘤有关;这一发现表明 MTHFR 基因可能在北方汉族人群脑膜瘤的发病机制中发挥重要作用。

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