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Identification of susceptibility loci for cognitive impairment in a cohort of Han Chinese patients with Parkinson's disease.
Neuroscience Letters ( IF 2.5 ) Pub Date : 2020-05-11 , DOI: 10.1016/j.neulet.2020.135034
Hong-Jun Liu 1 , Xiao-Yan Li 2 , Hui Chen 2 , Hui-Li Yu 2 , Qing-Qing Tao 2 , Zhi-Ying Wu 3
Affiliation  

Parkinson's disease (PD) is one of the most common neurodegenerative diseases. Identifying PD cognitive impairment (PDCI) in the early stage will help slow or prevent PD dementia. Susceptibility loci for PDCI are inconsistent in different studies. The aim of this study is to determine susceptibility loci for PDCI in the Han Chinese population. A total of 24 single nucleotide polymorphisms (SNPs) associated with PDCI were genotyped by Massarray system and Sanger sequencing in 158 PD patients and 275 healthy controls. Two SNPs (rs34778348 in LRRK2, rs78973108 in GBA) had different genotype distribution between PD and controls. None of risk SNPs was identified between PDCI and PD with normal cognition (PDNC). Aging and high Unified Parkinson's Disease Rating Scale (UPDRS) score were the independent risk factors for PDCI, rather than sex and SNPs. Our study showed that none of risk SNPs was identified to be significantly associated with cognitive decline of PD patients, indicating the effect of susceptibility loci on PDCI is subtle in the Han Chinese population.

中文翻译:

在汉族帕金森氏病患者队列中识别认知障碍的易感基因座。

帕金森氏病(PD)是最常见的神经退行性疾病之一。尽早识别出PD认知障碍(PDCI)将有助于减慢或预防PD痴呆。PDCI的易感基因座在不同的研究中不一致。这项研究的目的是确定汉族人群中PDCI的易感基因座。通过Massarray系统和Sanger测序对158名PD患者和275名健康对照者进行了与PDCI相关的总共24个单核苷酸多态性(SNP)基因分型。两个SNP(LRRK2中的rs34778348,GBA中的rs78973108)在PD和对照之间具有不同的基因型分布。在PDCI和具有正常认知能力(PDNC)的PD之间没有发现危险的SNP。年龄和帕金森病统一评分量表(UPDRS)高得分是PDCI的独立危险因素,而不是性别和SNP。我们的研究表明,没有发现危险的SNP与PD患者的认知能力下降显着相关,这表明汉族人群中易感基因座对PDCI的影响微妙。
更新日期:2020-05-11
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