AUTHOR=Liu Jin , Li Gen , He Yixi , He Guiying , Zhang Pingchen , Shen Xin , Zhang Weishan , Chen Shengdi , Cui Shishuang , Tan Yuyan 

TITLE=The Association Analysis of GPNMB rs156429 With Clinical Manifestations in Chinese Population With Parkinson's Disease

JOURNAL=Frontiers in Genetics

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.00952

DOI=10.3389/fgene.2020.00952

ISSN=1664-8021

ABSTRACT=<p><bold>Background:</bold> 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 (<italic>GPNMB</italic>) 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.</p><p><bold>Objective:</bold> This study aimed to investigate the possible association of <italic>GPNMB</italic> rs156429 with PD manifestations among southeastern Chinese people.</p><p><bold>Methods:</bold> 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 <italic>GPNMB</italic> rs156429. The associations of rs156429 with PD rating scales and clinical manifestations were analyzed by Kruskal-Wallis test and logistic regression model separately.</p><p><bold>Results:</bold> Kruskal-Wallis test and logistic regression model failed to reveal an association between <italic>GPNMB</italic> rs156429 and scores from Montreal Cognitive Assessment (MoCA) (<italic>p</italic> = 0.037; <italic>p</italic> = 1.000 after correction), and pain symptoms of 511 PD patients (<italic>p</italic> = 0.008, OR = 0.59, 95% CI = 0.40–0.87, overdominant model after adjustment; <italic>p</italic> = 0.168 after correction, overdominant model after adjustment). However, further analysis based on genders showed that <italic>GPNMB</italic> rs156429 might have a trend for being associated with cognitive dysfunction (Mini-Mental State Examination (MMSE), <italic>p</italic> = 0.064 after correction; MoCA, <italic>p</italic> = 0.064 after correction) and pain symptoms (<italic>p</italic> = 0.063 after correction, overdominant model after adjustment) in female PD patients but not male patients.</p><p><bold>Conclusions:</bold> This study revealed that <italic>GPNMB</italic> 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.</p>