| Autor: |
Hui Wu, Hui Li, Zhiqiang Shi, Jiajia Tang, Shuya Mei, Tianyi Ai, Zhenzhou He |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
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| Zdroj: |
BMC Neurology, Vol 20, Iss 1, Pp 1-7 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
1471-2377 |
| DOI: |
10.1186/s12883-019-1574-1 |
| Popis: |
Abstract Background Parkinson’s disease (PD) is a progressive neurodegenerative movement disorder that is characterized by motor symptoms such as tremor, rigidity, slowness of movement and problems with gait. Large-scale meta-analyses of genome-wide association studies (GWAS) have identified few susceptibility loci in patients with sporadic PD. The aim of this study was to investigate the association between NMD3 single nucleotide polymorphism (SNP) and symptoms in PD patients in South China. Methods A total of 217 PD patients were recruited in this study and genotyped by using the SNaPshot technique and the polymerase chain reaction. All subjects were evaluated by the Mini-Mental State Examination (MMSE), Beijing version Montreal Cognitive Assessment (MoCA), Sniffin’ Sticks 16 (SS-16), Hamilton Anxiety Rating Scale, Hamilton Depression Rating Scale, 39-item Parkinson’s Disease Questionnaire (PDQ-39) and MDS Unified PD Rating Scale (MDS-UPDRS). Results NMD3 rs34016896 (C > T) carriers have worse cognitive function than wild types (MMSE: p = 0.042, NMD3 wild type: 27.44 ± 2.89, NMD3 carriers: 26.31 ± 3.79; MoCA: p = 0.005, NMD3 wild type: 23.15 ± 4.20, NMD3 carriers: 20.75 ± 6.68). Conclusions The recessive and overdominant model of NMD3 rs34016896 was associated with cognitive impairment in PD patients. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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