Li Gen, Cui Shishuang, Du Juanjuan, Liu Jin, Zhang Pingchen, Fu Yang, He Yixi, Zhou Haiyan, Ma Jianfang, Chen Shengdi
Department of Neurology & Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Co-innovation Center of Neuroregeneration, Nantong University, Nantong, China.
Front Aging Neurosci. 2018 Dec 13;10:402. doi: 10.3389/fnagi.2018.00402. eCollection 2018.
The aim of the study was to investigate the relationship between 22 single nucleotide polymorphisms (SNPs) and Parkinson's disease (PD) in the Chinese population. A total of 250 PD patients and 240 healthy controls were recruited. The SNaPshot technique and the polymer chain reaction were used to detect 22 SNPs. rs8005172 of , rs9468199 of and rs34043159 of , were associated with PD (rs8005172: = 0.009, OR = 0.69, allele model, = 0.010, additive model, = 0.015, OR = 2.17, dominant model; = 0.020, OR = 2.11, dominant model after adjustment; = 0.036, OR = 1.47, recessive model after adjustment; rs9468199: = 0.008, OR = 1.52, allele model, = 0.008, additive model, = 0.007, OR = 0.22, recessive model, = 0.005, OR = 0.20, recessive model after adjustment; rs34043159: = 0.034, OR = 1.31, allele model, = 0.036, additive model). Our study revealed that , , and were associated with PD in the southern Chinese population. was also associated with LOPD. and were associated with EOPD. In addition, trends of association to PD, between , , and , were also found. Genetic play an important role in the pathogenesis factors of Parkinson's disease (PD). We found that , , and were associated with PD. was also associated with late onset of PD, while and were associated with early onset PD. This study is the first to find an association between , , and rs2280104 with PD.
本研究旨在探讨中国人群中22个单核苷酸多态性（SNP）与帕金森病（PD）之间的关系。共招募了250例PD患者和240名健康对照。采用SNaPshot技术和聚合酶链反应检测22个SNP。其中，[具体基因1]的rs8005172、[具体基因2]的rs9468199和[具体基因3]的rs34043159与PD相关（rs8005172：P = 0.009，OR = 0.69，等位基因模型；P = 0.010，加性模型；P = 0.015，OR = 2.17，显性模型；调整后P = 0.020，OR = 2.11，显性模型；调整后P = 0.036，OR = 1.47，隐性模型；rs9468199：P = 0.008，OR = 1.52，等位基因模型；P = 0.008，加性模型；P = 0.007，OR = 0.22，隐性模型；调整后P = 0.005，OR = 0.20，隐性模型；rs34043159：P = 0.034，OR = 1.31，等位基因模型；P = 0.036，加性模型）。我们的研究表明，[具体基因1]、[具体基因2]和[具体基因3]与中国南方人群的PD相关。[具体基因1]也与晚发型帕金森病（LOPD）相关。[具体基因2]和[具体基因3]与早发型帕金森病（EOPD）相关。此外，还发现了[具体基因4]、[具体基因5]和[具体基因6]与PD之间的关联趋势。基因在帕金森病（PD）的发病机制因素中起重要作用。我们发现，[具体基因1]、[具体基因2]和[具体基因3]与PD相关。[具体基因1]也与PD的晚发相关，而[具体基因2]和[具体基因3]与PD的早发相关。本研究首次发现[具体基因1]、[具体基因2]和rs2280104与PD之间存在关联。
