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Autoimmune Disease Associated CLEC16A Variants Convey Risk of Parkinson’s Disease in Han Chinese
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 autophagy disruption and neuroinflammation, has been clinically obs...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9007333/ https://www.ncbi.nlm.nih.gov/pubmed/35432448 http://dx.doi.org/10.3389/fgene.2022.856493 |
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author | Fan, Hui-Hui Cui, Lei Jiang, Xiao-Xia Song, Ya-Dan Liu, Shu-Shu Wu, Ke-Yun Dong, Hao-Jia Mao, Miao Ovlyakulov, Begench Wu, Hong-Mei Zhu, Jian-Hong Zhang, Xiong |
author_facet | Fan, Hui-Hui Cui, Lei Jiang, Xiao-Xia Song, Ya-Dan Liu, Shu-Shu Wu, Ke-Yun Dong, Hao-Jia Mao, Miao Ovlyakulov, Begench Wu, Hong-Mei Zhu, Jian-Hong Zhang, Xiong |
author_sort | Fan, Hui-Hui |
collection | PubMed |
description | 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 autophagy disruption and neuroinflammation, has been clinically observed, for an extensive amount of time, to be associated with autoimmune diseases. In this study, we aimed to understand whether the autoimmune disease associated CLEC16A variants pleiotropically modulate PD risk. Five of such CLEC16A variants, including rs6498169, rs12708716, rs12917716, rs7200786, and rs2903692, were selected and analyzed in a Han Chinese cohort comprising 515 sporadic PD patients and 504 controls. Results showed that rs6498169 and rs7200786 were significantly associated with PD susceptibility (p = 0.005 and 0.004, respectively; recessive model, p = 0.002 and 0.001, respectively). Rs6498169 was also associated with the PD subtype of postural instability/gait difficulty (p = 0.002). Haplotype analysis showed that the AAG module in order of rs6498169, rs12708716, and rs2903692 was associated with the highest risk for PD (p = 0.0047, OR = 1.42, 95% CI = 1.11–1.82). Functional annotation analyses suggested that rs6498169 had high probability to affect transcription factor binding and target gene expression. In summary, the current study demonstrates that the autoimmune disease associated CLEC16A variants convey risk of PD in Han Chinese. Our findings suggest a pleiotropic role of CLEC16A and strengthen the link between PD and autoimmune diseases. |
format | Online Article Text |
id | pubmed-9007333 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-90073332022-04-14 Autoimmune Disease Associated CLEC16A Variants Convey Risk of Parkinson’s Disease in Han Chinese Fan, Hui-Hui Cui, Lei Jiang, Xiao-Xia Song, Ya-Dan Liu, Shu-Shu Wu, Ke-Yun Dong, Hao-Jia Mao, Miao Ovlyakulov, Begench Wu, Hong-Mei Zhu, Jian-Hong Zhang, Xiong Front Genet Genetics 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 autophagy disruption and neuroinflammation, has been clinically observed, for an extensive amount of time, to be associated with autoimmune diseases. In this study, we aimed to understand whether the autoimmune disease associated CLEC16A variants pleiotropically modulate PD risk. Five of such CLEC16A variants, including rs6498169, rs12708716, rs12917716, rs7200786, and rs2903692, were selected and analyzed in a Han Chinese cohort comprising 515 sporadic PD patients and 504 controls. Results showed that rs6498169 and rs7200786 were significantly associated with PD susceptibility (p = 0.005 and 0.004, respectively; recessive model, p = 0.002 and 0.001, respectively). Rs6498169 was also associated with the PD subtype of postural instability/gait difficulty (p = 0.002). Haplotype analysis showed that the AAG module in order of rs6498169, rs12708716, and rs2903692 was associated with the highest risk for PD (p = 0.0047, OR = 1.42, 95% CI = 1.11–1.82). Functional annotation analyses suggested that rs6498169 had high probability to affect transcription factor binding and target gene expression. In summary, the current study demonstrates that the autoimmune disease associated CLEC16A variants convey risk of PD in Han Chinese. Our findings suggest a pleiotropic role of CLEC16A and strengthen the link between PD and autoimmune diseases. Frontiers Media S.A. 2022-03-30 /pmc/articles/PMC9007333/ /pubmed/35432448 http://dx.doi.org/10.3389/fgene.2022.856493 Text en Copyright © 2022 Fan, Cui, Jiang, Song, Liu, Wu, Dong, Mao, Ovlyakulov, Wu, Zhu and Zhang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Fan, Hui-Hui Cui, Lei Jiang, Xiao-Xia Song, Ya-Dan Liu, Shu-Shu Wu, Ke-Yun Dong, Hao-Jia Mao, Miao Ovlyakulov, Begench Wu, Hong-Mei Zhu, Jian-Hong Zhang, Xiong Autoimmune Disease Associated CLEC16A Variants Convey Risk of Parkinson’s Disease in Han Chinese |
title | Autoimmune Disease Associated CLEC16A Variants Convey Risk of Parkinson’s Disease in Han Chinese |
title_full | Autoimmune Disease Associated CLEC16A Variants Convey Risk of Parkinson’s Disease in Han Chinese |
title_fullStr | Autoimmune Disease Associated CLEC16A Variants Convey Risk of Parkinson’s Disease in Han Chinese |
title_full_unstemmed | Autoimmune Disease Associated CLEC16A Variants Convey Risk of Parkinson’s Disease in Han Chinese |
title_short | Autoimmune Disease Associated CLEC16A Variants Convey Risk of Parkinson’s Disease in Han Chinese |
title_sort | autoimmune disease associated clec16a variants convey risk of parkinson’s disease in han chinese |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9007333/ https://www.ncbi.nlm.nih.gov/pubmed/35432448 http://dx.doi.org/10.3389/fgene.2022.856493 |
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