There were 217 PD patients included in this study. SNPs of two PD patients failed to be detected. In all, there were 39 NMD3 wildtypes and 178 NMD3 carriers in our study. The minor allele frequency in our group was 0.41 which is similar to previous genetic association study in southern eastern China[11]. There was no difference of age, gender, disease duration, family history, and
Hoehn-Yahr staging in two groups. In NMD3 wildtype group, the age was 55.69 ± 10.24 years (mean ± SD) and there were 17 (43.59%) female were included in this study. In NMD3 carrier group, the average of age was 57.03 ± 10.16 years (mean ± SD) and there were 73 (41.01%) female were included. There was no difference of total scores of NMSS, SCOPA-AUT, PDQ–39 between two groups. Cognitive function assessed by MMSE and MoCA of NMD3 wildtypes was better than NMD3 carriers (MMSE: p 0.042, NMD3 wildtype: 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). (Table 1)
The presence of hallucination, postural hypotension, delusion were associated with the additive model (hallucination: p 0.025; postural hypotension: p 0.007, delusion: p 0.038). Besides, trends of the presence of apathy, decreased recent memory and change of weight were found under the additive model (apathy: p 0.092; decreased recent memory: p 0.064; change of weight: p 0.073). (Table 2)
Under the dominant model, the presence of postural hypotension were found (p 0.052, OR: 2.38, 1.05—6.16, before adjustment; p 0.050, OR: 2.43, 1.05—6.38, after adjustment). (Table 2)
Under the recessive model, the presence of hallucination, apathy, postural hypotension and delusion were found (Hallucination: p 0.012, OR: 2.96, 1.29—7.10, before adjustment; p 0.014, OR: 2.95, 1.26—7.21, after adjustment. Apathy: p 0.011, OR: 2.06, 1.18—3.61, before adjustment; p 0.012, OR: 2.07, 2.28—3.67, after adjustment. Postural hypotension: p 0.017, OR: 2.04, 1.14—3.68, before adjustment; p 0.016, OR: 2.08, 1.15—3.82, after adjustment. Delusion: p 0.014, OR: 3.94, 1.38—12.92, before adjustment; p 0.012, OR: 4.41, 1.46—15.47, after adjustment.). Trends of decreased attention, decreased recent memory, hypogeusia and change of weight were associated with the recessive model (decreased attention: p 0.068, OR: 1.76, 0.58—3.02, before adjustment; p 0.075, OR: 1.78, 0.94—3.38, after adjustment. Decreased recent memory: p 0.075, OR: 1.68, 0.96—3.00, before adjustment; p 0.069, OR: 1.71, 0.96—3.09, after adjustment. Hypogeusia: p 0.086, OR: 1.63, 0.93—2.85, before adjustment; p 0.080, OR: 1.65, 0.94—2.89, after adjustment. Change of weight: p 0.097, OR: 0.17, 0.01—0.94, before adjustment; p 0.089, OR: 0.16, 0.01—0.90, after adjustment.). (Table 3)
Under the overdominant model, the presence of apathy and delusion were found (Apathy: p 0.011, OR: 2.05, 1.19—3.57, before adjustment; p 0.012, OR: 2.06, 1.18—3.64, after adjustment.
Delusion: p 0.048, OR: 3.66, 1.14—16.31, before adjustment; p 0.035, OR: 4.35, 1.25—20.99, after adjustment.). Trend of association between hallucination and the overdominant model was found (p 0.071, OR: 2.32, 0.97—6.17, before adjustment; p 0.086, OR: 2.26, 0.93—6.13, after adjustment).
(Table 4)
We performed Bonferroni correction for correction for adjusting p values. However, there was no satistically significant results remained.