Association Of PARK16 Polymorphism With PD Susceptibility In Chinese Han Population

Objective: To investigate the association between PARK16 gene polymorphism and Parkinson's disease (PD) susceptibility in Chinese Han population, and to analyze its SNP genotypes, frequencies and odds ratios(OR) of different genotypes.Methods: The association between two SNP loci in PARK16 gene (Rs947211, Rs823128) and PD susceptibility was investigated by TaqMan quantitative polymerase chain reaction (PCR) in 407 PD patients and 516 healthy controls. Clinical data was also analyzed. Results:1 In PD group, three genotypes of Rs947211 (GG, AG and AA) accounted for 35.4%, 45.7%, 18.9%, Control group 26.4%, 53.3%, 20.3% respectively, two groups were significant differences (P<0.05). GG genotype as the reference, after adjusting age and gender, OR value of AG of PD group was 0.63 (95% CI: 0.47-0.85, P=0.002) and OR of AA genotype was 0.68 (95% CI: 0.47-0.99, P=0.046). Exposure to the A allele (AA+AG), and its OR was 0.64 (95% CI: 0.48-0.85, P=0.002). Subsequently, it could be concluded that there was a lower risk factor in sporadic PD than familiar PD (OR (MH) =0.66, 95% CI: 0.50-0.86, X~2=8.85, P=0.003).2 The frequencies of genotypes and Allele of Rs823128 in PD group were no significantly different with control group(X~2=1.37, P=0.503; X~2=1.44, P=0.233).3 Clinical features of the Rs947211 and Rs823128 in three genotypes were further analyzed, and there were no differences between the clinical characteristics in the patients in the three genotypes for genders, ages, age-at-onset, disease durations, family histories, cardinal features (resting tremor, rigidity and mixed symptoms), scores of Hoehn-Yahr stage, UPDRSⅢscores (on-stage), HAMD scores, HAMA scores, SDS scores, SAS scores, PDSS scores, PDNMS scores, MOCA scores and MMSE scores. Conclusion: PARK16 is associated with PD patients in Chinese Han population. Objective: To investigate the incidence, distribution of non-motor symptoms (NMS) and NMSQuest-Details (NMSQ-D) in patients with newly diagnosed PD, and its relationship with clinical features and various scales.Methods: 61 PD patients without taking any drugs and 89 normal controls were collected in outpatient visits, and their clinic information and related scales were also evaluated.Results: 96.7% PD total patients presented with NMS, decreased recent memory (62.3%, n=38), decreased attention (57.4%, n =35), and constipation (49.2%, n=30) were the most common in PD group, there were significantly different between PD group and Normal group (P <0.01), so did the moderate and mild groups of PD. NMSQuest average score of the PD group (9.1±5.2), PD moderate disease group of NMS (12.2±4.6) and mild group (7.2±3.7) were significantly higher than the control group (2.9±2.5) (P <0.01). We also found that NMSQust Details (NMSQ-D) were most closely with the HY stage by Kruskal Wallis test, the followed were the course of disease and UPDRS-Ⅲ, no difference was found between age and age of onset. NMSQuest and HY stage (r = 0.339, P <0.01), SDS (r = 0.724, P <0.01), SAS (r = 0.700, P <0.01) were Positive correlation; And PDSS (r =- 0.578, P <0.01) was negative correlation; age, age at onset, gender, duration, UPDRS-Ⅲscore and MOCA had nothing to do with NMSQuest.Conclusion: Non-motor symptoms in patients with newly diagnosed PD were complex and diverse, which were significantly higher than normal, and people are susceptible to ignore them, so we need to pay attention to them and treating at the early-stage PD diseases.