帕金森病患者血清中Aβ1-42含量与MTHFRC677T基因多态性的关联性研究

Correlation between concentration of serum Aβ1-42 and MTHFRC677T gene polymorphism in patients with Parkinson's disease

目的探讨帕金森病(PD)患者血清β-淀粉样蛋白1-42(Aβ1-42)水平与N5,N10-亚甲四氢叶酸还原酶(MTHFR)基因多态性的关系。方法采用多聚酶链反应-限制性内切酶片段长度多态性技术(PCR-RFLP)分别检测PD患者50例和正常对照组50名MTHFR基因C677T位点多态性,同时测定血清Aβ1-42水平。结果PD组MTHFR基因TT型频率为32.0%,CT型频率为52.0%,CC型频率为16.0%;对照组分别为12.0%、56.0%和32.0%。PD组T等位基因频率为60.0%,C等位基因频率为40.0%;对照组分别为42.0%和58.0%。PD组MTHFR基因TT型患者血清Aβ1-42水平显著低于其他两型(F=4.831,P=0.012),CT型血清Aβ1-42水平显著低于CC型(P <0.05)。结论 PD患者MTHFR基因C677T突变与Aβ1-42水平显著相关,MTHFR基因突变可能是引起低Aβ1-42的一个重要遗传因素。

Objective To investigate the correlation between the serum levels of β-amyloid 1-42(Aβ1-42) and polymorphisms of N5, N10-methylenetetrahydrofolate reductase(MTHFR) gene in patients with Parkinson′s disease(PD). Methods The polymorphisms of MTHFRC677T gene were determined by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) technique in 50 PD patients and 50 normal controls, and their serum levels of Aβ1-42 were detected by Enzyme-linked Immunosorbent Assay(ELISA) method. Results The frequency of TT type of MTHFR gene in PD patients was 32.0%;the frequency of CT type was 52.0% and the frequency of CC type was 16.0%. The frequencies of TT type, CT type and CC type in the control group were 12.0%, 56.0% and 32.0% respectively. In PD group, the frequency of T allele was 60.0% and the frequency of C allele was 40.0%. In the control group, the frequency of T allele was 42.0% and the frequency of C allele was 58.0%. The serum level of Aβ1-42 in the patients with TT type of MTHFR gene in PD group was significantly lower than that in the patients with other two types( F =4.831, P =0.012), and the serum level of Aβ1-42 in CT type was significantly lower than that in CC type( P <0.05). Conclusion The MTHFR C677T gene mutations may be significantly associated with Aβ1-42 levels in patients with PD and the homozygous mutation in MTHFR gene may be an important genetic factor of lower Aβ1-42.