散发性帕金森病中MTHFR基因启动子区域rs13306560功能变异的分析
Analysis of the rs13306560 functional variant in the promoter region of the MTHFR gene in sporadic Parkinson´s disease.
作者信息
García Silvia, Cano-Martínez Luis Javier, Coral-Vázquez Ramón Mauricio, Coronel-Perez Agustín, Gómez-Díaz Benjamín, Toledo-Lozano Christian Gabriel, Gallegos-Arreola Martha Patricia, Dávila-Maldonado Luis, Jimenez-Hernández Dulce Adeí, Alcaraz-Estrada Sofía Lizeth, López-Hernández Luz Berenice
机构信息
National Medical Center "20 de Noviembre", Institute for Social Security and services of State Workers, Mexico City, Mexico.
Sección de Estudios de Posgrado e Investigación, Escuela Superior de Medicina, Instituto Politécnico Nacional, Ciudad de México, Mexico.
出版信息
Neuro Endocrinol Lett. 2017 Aug;38(4):257-260.
OBJECTIVE
Among susceptibility genes for Sporadic Parkinson´s Disease (SPD), the MTHFR gene has been suggested as candidate. The A allele of the functional variant rs13306560 in its promoter region has been liked to decreased transactivation capacity. Therefore, we sought to determine a possible association of the rs13306560 and SPD.
METHODS
In total, 237 individuals were genotyped, 113 patients with SPD diagnosed according to the Queen Square Brain Bank criteria and 124 neurologically healthy controls. Genotyping was performed using TaqMan probes for the rs13306560 and real-time PCR.
RESULTS
The A allelle was associated to protection in SPD, under the dominant model, (OR=0.22, C.I.=[0.048-1.080], p=0.04), nevertheless, after logistic regression analysis with adjustment for gender, resulted only in a trend (Exp (β)=0.211, [I.C. 95.0%, 0.042-1.057], p=0.058).
CONCLUSION
Although further studies are needed, our data suggest an important role of the MTHFR gene variants in the fine-tuning regulation of one-carbon metabolism in the brain.
目的
在散发性帕金森病（SPD）的易感基因中，MTHFR基因被认为是候选基因。其启动子区域功能性变异rs13306560的A等位基因与转录激活能力降低有关。因此，我们试图确定rs13306560与SPD之间可能存在的关联。
方法
总共对237人进行了基因分型，其中113例根据女王广场脑库标准诊断为SPD的患者和124名神经功能正常的对照者。使用针对rs13306560的TaqMan探针和实时PCR进行基因分型。
结果
在显性模型下，A等位基因与SPD的保护作用相关（OR=0.22，置信区间=[0.048 - 1.080]，p=0.04），然而，在对性别进行调整的逻辑回归分析后，仅得出一种趋势（Exp(β)=0.211，[95.0%置信区间，0.042 - 1.057]，p=0.058）。
结论
尽管还需要进一步研究，但我们的数据表明MTHFR基因变异在大脑一碳代谢的精细调节中起重要作用。
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