NMD3 arasındaki ilişki ve Çin'de Parkinson hastalığının belirtileri

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Abstract Bcakground: Parkinson's disease (PD) is a progresasive neurodegenerative movement disorder which 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 sporadic PD. The aim of this study was to investigate the association between NMD3 single nucleotide polymorphism (SNP) and symptoms of PD patients in southern Chinese. Methods: A total of 217 PD patients were recruited in this study and were genotyped by using SNaPshot technique and the polymer chain reaction. All subjects were evaluated by 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 (T) carriers have worse cognitive function (MMSE: p 0.042, NMD3wildtype: 27.44 ± 2.89, NMD3 carriers: 26.31 ± 3.79; MoCA: p 0.005, NMD3 wildtype: 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.

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