Wang Quanbao, Tian Qian, Song Xiaojie, Liu Yunyong, Li Wei
Department of Neurology, Linyi People's Hospital, Linyi, Shandong Province, China.
J Clin Lab Anal. 2016 Nov;30(6):1092-1099. doi: 10.1002/jcla.21986. Epub 2016 May 17.
The purpose of this study is to elucidate the association between α-synuclein (SNCA) polymorphisms and the risk of Alzheimer's disease (AD).
The PCR-RFLP was applied to detect SNCA gene rs6532190, rs3775430, and rs10516846 polymorphisms in 98 AD patients and 105 healthy elderly.
The GG frequency of rs10516846 was evidently increased in AD group than control group (P < 0.05). There was a significant difference in SNCA level between the AD and control groups (P < 0.01). In the AD group, the SNCA level in cerebrospinal fluid of GG (rs10516846) carriers was increased as compared with AA carriers (P < 0.05). The GG (rs10516846) frequency of the early-onset AD group is significantly higher than that of the late-onset AD group (P < 0.05). The frequency of rs3775430 GG was lower in the early-onset group than that in the late-onset group (0% vs. 16.7%). The SNCA level in cerebrospinal fluid of GG (rs10516846) carriers in the early-onset AD group is higher than that of AA carriers (P < 0.05).
SNCA gene polymorphism may be associated with an increased risk of AD and GG genotype of rs10516846 and elevated SNCA level in CSF may increase the risk of early-onset AD.
本研究旨在阐明α-突触核蛋白(SNCA)基因多态性与阿尔茨海默病(AD)风险之间的关联。
应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测98例AD患者和105例健康老年人的SNCA基因rs6532190、rs3775430和rs10516846多态性。
AD组rs10516846的GG基因型频率明显高于对照组(P < 0.05)。AD组和对照组之间的SNCA水平存在显著差异(P < 0.01)。在AD组中,GG(rs10516846)携带者脑脊液中的SNCA水平高于AA携带者(P < 0.05)。早发型AD组的GG(rs10516846)频率显著高于晚发型AD组(P < 0.05)。早发型组中rs3775430 GG的频率低于晚发型组(0%对16.7%)。早发型AD组中GG(rs10516846)携带者脑脊液中的SNCA水平高于AA携带者(P < 0.05)。
SNCA基因多态性可能与AD风险增加有关,rs10516846的GG基因型以及脑脊液中SNCA水平升高可能增加早发型AD的风险。