Abstract
Background: The mechanisms of Parkinson's disease (PD) include complicated genetic factors. The roles of newly found risk genes need to be further verified among different ethnicities. In a two-stage meta-analysis, single nucleotide polymorphism (SNP) of rs156429 in glycoprotein non-metastatic melanoma protein B (GPNMB) was reported to be associated with PD. So far clinical studies have focused on association between rs156429 and PD onset, however there is little evidence linking rs156429 with PD symptoms.Objective: This study aimed to investigate the possible association of GPNMB rs156429 with PD manifestations among southeastern Chinese people.Methods: Demographic variables, disease-related factors, and motor and non-motor assessments of 511 PD patients were collected. Polymerase chain reaction (PCR) and SNaPshot technique were used to detect GPNMB rs156429. The associations of rs156429 with PD rating scales and clinical manifestations were analyzed by Kruskal-Wallis test and logistic regression model separately.Results: Kruskal-Wallis test and logistic regression model failed to reveal an association between GPNMB rs156429 and scores from Montreal Cognitive Assessment (MoCA) (p = 0.037; p = 1.000 after correction), and pain symptoms of 511 PD patients (p = 0.008, OR = 0.59, 95% CI = 0.40–0.87, overdominant model after adjustment; p = 0.168 after correction, overdominant model after adjustment). However, further analysis based on genders showed that GPNMB rs156429 might have a trend for being associated with cognitive dysfunction (Mini-Mental State Examination (MMSE), p = 0.064 after correction; MoCA, p = 0.064 after correction) and pain symptoms (p = 0.063 after correction, overdominant model after adjustment) in female PD patients but not male patients.Conclusions: This study revealed that GPNMB rs156429 might have a trend for being associated with cognitive dysfunction and pain symptoms of female PD patients in the southeastern Chinese population. Further studies from a larger sample size are needed to confirm these findings.
Highlights
Parkinson’s disease (PD) is one of the most common neurodegenerative disorders (Saeed et al, 2017)
A two-stage meta-analysis found that glycoprotein nonmetastatic melanoma protein B (GPNMB)/7p15 was associated with PD onset (International Parkinson’s Disease Genomics Consortium (IPDGC) Wellcome Trust Case Control Consortium 2 (WTCCC2)., 2011)
All scores did not follow the normal distribution, Kruskal-Wallis test was applied to analyze the association of rating scales scores and GPNMB rs156429 genotypes
Summary
Parkinson’s disease (PD) is one of the most common neurodegenerative disorders (Saeed et al, 2017). In despite of contradictory clinical results, researchers found that GPNMB was Abbreviations: AD, Alzheimer’s disease; ADL, activity of daily living; ALS, Amyotrophic lateral sclerosis; AMPA, α-amino-3-hydroxy-5-methylisoxazole-4propionate; BPI, Brief Pain Inventory; CI, Confidence interval; COMT, catecholO-methyltransferase; CSF, cerebrospinal fluid; EOPD, early-onset Parkinson’s disease; ESS, Epworth Sleeping Scale; FAAH, fatty acid amide hydrolase; FSS, Fatigue Severity Scale; GPNMB, glycoprotein non-metastatic melanoma protein B; GWAS, genome-wide association studies; HAMA, Hamilton Anxiety Rating Scale; HAMD, Hamilton Depression Rating Scale; HWE, HardyWeinberg equilibrium; H-Y staging, Hoehn-Yahr staging; IBD, Inflammatory bowel disease; LOPD, late-onset Parkinson’s disease; LPS, lipopolysaccharide; MDS, Movement Disorder Society; MDS-UPDRS, the Movement Disorder Society Unified Parkinson’s Disease Rating Scale; MMSE, Mini-Mental State Examination; MoCA, Montreal Cognitive Assessment; MPTP, 1-methyl-4-phenyl1,2,3,6-tetrahydropyridine; NMSS, Non-Motor Symptoms Scale; OR, Odds ratio; PCR, polymerase chain reaction; PD, Parkinson’s disease; PDQ-39, 39-item Parkinson’s disease Questionnaire; PDSS, Parkinson’s disease Sleep Scale; PSG, polysomnography; RBD, Rapid Eye Movement Sleep Behavior Disorder; RBDHK, Rapid Eye Movement Sleep Behavior Disorder Questionnaire-Hong Kong Version; SCN9A, sodium voltage-gated channel alpha subunit 9; SCOPA-AUT, Scales for Outcomes in Parkinson’s disease-Autonomic Questionnaire; SD, standard deviation; SE, standard error; SNP, single nucleotide polymorphism; SS-16, Sniffin’ Sticks-16. Clinical studies have focused on association between rs156429 and PD onset, there is little evidence linking rs156429 with PD symptoms
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