SNCA基因rs3822086位点C>T多态性增加中国汉族人群患帕金森病的易感性。
SNCA rs3822086 C>T Polymorphism Increases the Susceptibility to Parkinson's Disease in a Chinese Han Population.
作者信息
Jian Chong-Dong, Huang Jian-Min, Meng Lan-Qing, Li Xue-Bin, Huang Rui-Ya, Shi Sheng-Liang, Wu Yuan, Qin Chao, Chen Jin, Zhang Yan-Mei, Wang Shuang, Feng Yin-Ling, Zhou Sheng-Nian
机构信息
1 Department of Neurology, Affiliated Hospital of Youjiang Medical University for Nationalities , Baise, China .
2 Department of Neurology, The First Affiliated Hospital of Guangxi Medical University , Nanning, China .
出版信息
Genet Test Mol Biomarkers. 2015 Sep;19(9):481-7. doi: 10.1089/gtmb.2015.0046. Epub 2015 Jul 23.
OBJECTIVE
Protofibrils of alpha-synuclein mediate neuronal cell death and propagate Parkinson's disease (PD). In this study, we investigated the relationship between the rs3822086 C>T polymorphism located in the fourth intron of the alpha-synuclein (SNCA) gene and susceptibility to PD in a Chinese Han population.
METHODS
146 PD patients and 144 sex- and age-matched healthy individuals (control group) were selected for this study. The SNCA rs3822086 polymorphism was examined in all 300 study subjects by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.
RESULTS
The genotype and allele frequencies of the SNCA rs3822086 polymorphism showed significant differences between the PD group and control group (TT: 25.3% vs. 18.8%, p=0.035; CT+TT: 77.4% vs. 66.0%, p=0.031; T allele: 51.4% vs. 42.4%, p=0.030; respectively). Stratified analyses based on gender indicated that male PD patients exhibited higher genotype and allele frequencies of the SNCA rs3822086 polymorphism compared to healthy male controls (TT: 26.7% vs. 13.2%, p=0.011; CC+CT: 73.3% vs. 86.8%, p=0.024; T allele: 51.2% vs. 37.9%, p=0.012; respectively). Age-stratified analyses indicated that the genotype and allele frequencies of the SNCA rs3822086 polymorphism were significantly higher in PD patients older than 60 years in comparison to healthy controls (TT: 32.2% vs. 20.5%, p=0.014; CT+TT: 77.0% vs. 60.2%, p=0.017; T allele: 54.6% vs. 40.3%, p=0.008; respectively).
CONCLUSION
Our findings demonstrate that the SNCA rs3822086 C>T polymorphism correlates with increased susceptibility to PD among the Chinese Han population.
目的
α-突触核蛋白原纤维介导神经元细胞死亡并传播帕金森病（PD）。在本研究中，我们调查了位于α-突触核蛋白（SNCA）基因第四内含子中的rs3822086 C>T多态性与中国汉族人群PD易感性之间的关系。
方法
本研究选取了146例PD患者和144例性别和年龄匹配的健康个体（对照组）。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析检测了所有300名研究对象的SNCA rs3822086多态性。
结果
PD组和对照组之间SNCA rs3822086多态性的基因型和等位基因频率存在显著差异（TT：25.3%对18.8%，p=0.035；CT+TT：77.4%对66.0%，p=0.031；T等位基因：51.4%对42.4%，p=0.030）。基于性别的分层分析表明，男性PD患者与健康男性对照组相比，SNCA rs3822086多态性的基因型和等位基因频率更高（TT：26.7%对13.2%，p=0.011；CC+CT：73.3%对86.8%，p=0.024；T等位基因：51.2%对37.9%，p=0.012）。年龄分层分析表明，60岁以上的PD患者中SNCA rs3822086多态性的基因型和等位基因频率显著高于健康对照组（TT：32.2%对20.5%，p=0.014；CT+TT：77.0%对60.
Zotero 插件