Liao Q, Li N N, Mao X Y, Chang X L, Zhao D M, Zhang J H, Yu W J, Tan E K, Peng R
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
Acta Neurol Scand. 2014 Jul;130(1):e30-4. doi: 10.1111/ane.12245. Epub 2014 Mar 17.
Genetic variability of methylenetetrahydrofolate reductase (MTHFR) may be associated with Parkinson's disease (PD). Its role in ethnic Chinese population is still unclear. Our study aimed to investigate whether MTHFR C677T variation was linked to PD risk in a Han Chinese population from mainland China.
To investigate the association with the risk of PD, we analyzed the single-nucleotide polymorphism C677T in MTHFR gene using a case-control methodology. A total of 1482 subjects included 765 patients with idiopathic PD, and 717 age- and sex-matched controls were recruited in this study.
The T allele of MTHFR C677T was associated with a decreased risk of PD (OR = 0.80, 95% CI: 0.688-0.926, P = 0.003). Patients with CT + TT genotypes have a decreased risk of PD compared with those with CC genotypes (OR = 0.66, 95%CI: 0.532-0.813, P = 0.000). CT + TT subjects cannot be differentiated from CC subjects based on their clinical features.
We showed that the C677T polymorphism in MTHFR gene was associated with decreased PD susceptibility in a Han Chinese population from mainland China. Efforts to fully elucidate the pathophysiologic role of the variant in PD should be necessary.
亚甲基四氢叶酸还原酶（MTHFR）的基因变异性可能与帕金森病（PD）相关。其在华裔人群中的作用仍不清楚。我们的研究旨在调查MTHFR基因C677T变异是否与中国大陆汉族人群的PD风险相关。
为了研究与PD风险的关联，我们采用病例对照方法分析了MTHFR基因中的单核苷酸多态性C677T。本研究共纳入1482名受试者，其中包括765例特发性PD患者，以及717名年龄和性别匹配的对照。
MTHFR C677T的T等位基因与PD风险降低相关（OR = 0.80，95%CI：0.688 - 0.926，P = 0.003）。与CC基因型患者相比，CT + TT基因型患者的PD风险降低（OR = 0.66，95%CI：0.532 - 0.813，P = 0.000）。CT + TT受试者与CC受试者在临床特征上无法区分。
我们发现MTHFR基因中的C677T多态性与中国大陆汉族人群的PD易感性降低相关。有必要努力充分阐明该变异在PD中的病理生理作用。
