Autoimmune Disease Associated CLEC16A Variants Convey Risk of Parkinson’s Disease in Han Chinese

• DOI: 10.3389/fgene.2022.856493
• Publication Date: 2022-03-30T13:51:22Z
• Authors: Hui-Hui Fan; Lei Cui; Xiao-Xia Jiang; Ya-Dan Song; Shu-Shu Liu; Ke-Yun Wu; Hao-Jia Dong; Miao Mao; Begench Ovlyakulov; Hong-Mei Wu; Jian-Hong Zhu; Xiong Zhang
• Keywords: Genome-wide Association Study

CLEC16A is a membrane-associated endosomal protein implicated in regulating autophagy and antigen presentation. Its genetic variants are broadly associated with multiple autoimmune diseases. Parkinson's disease (PD), which undergoes disruption neuroinflammation, has been clinically observed, for an extensive amount of time, to be In this study, we aimed understand whether the pleiotropically modulate PD risk. Five such variants, including rs6498169, rs12708716, rs12917716, rs7200786, rs2903692, were selected analyzed Han Chinese cohort comprising 515 sporadic patients 504 controls. Results showed that rs6498169 rs7200786 significantly susceptibility (p = 0.005 0.004, respectively; recessive model, p 0.002 0.001, respectively). Rs6498169 was also subtype postural instability/gait difficulty 0.002). Haplotype analysis AAG module order rs2903692 highest risk 0.0047, OR 1.42, 95% CI 1.11-1.82). Functional annotation analyses suggested had high probability affect transcription factor binding target gene expression. summary, current study demonstrates convey Chinese. Our findings suggest pleiotropic role strengthen link between