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Comprehensive Analysis of LIN28A in Chinese Patients With Early Onset Parkinson’s Disease

A loss-of-function variant in Lin-28 Homolog A gene (LIN28A p. R192G, rs558060339) has been identified in two East Asian ancestry patients with early-onset PD (EOPD). Functional studies revealed that such a variant could lead to developmental defects and PD-related phenotype, and the phenotypes coul...

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Autores principales: Gu, Xiaojing, Hou, Yanbing, Chen, Yongping, Ou, Ruwei, Cao, Bei, Wei, Qianqian, Zhang, Lingyu, Song, Wei, Zhao, Bi, Wu, Ying, Shang, Huifang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8558378/
https://www.ncbi.nlm.nih.gov/pubmed/34733315
http://dx.doi.org/10.3389/fgene.2021.740096
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author Gu, Xiaojing
Hou, Yanbing
Chen, Yongping
Ou, Ruwei
Cao, Bei
Wei, Qianqian
Zhang, Lingyu
Song, Wei
Zhao, Bi
Wu, Ying
Shang, Huifang
author_facet Gu, Xiaojing
Hou, Yanbing
Chen, Yongping
Ou, Ruwei
Cao, Bei
Wei, Qianqian
Zhang, Lingyu
Song, Wei
Zhao, Bi
Wu, Ying
Shang, Huifang
author_sort Gu, Xiaojing
collection PubMed
description A loss-of-function variant in Lin-28 Homolog A gene (LIN28A p. R192G, rs558060339) has been identified in two East Asian ancestry patients with early-onset PD (EOPD). Functional studies revealed that such a variant could lead to developmental defects and PD-related phenotype, and the phenotypes could be rescued after correction of the variant. The aim of the study was to screen the variants of LIN28A in Chinese patients with EOPD. A total of 682 EOPD patients were sequenced with whole exome sequencing and the coding and flanking region of LIN28A were analyzed. We identified a rare coding variant, p. P182L, of LIN28A in a Chinese patient with EOPD. Moreover, we also found a 3′-UTR polymorphism (rs4659441) to be associated with an increased risk for PD. However, our rare variant burden analysis did not support a role for LIN28A as a major causal gene for PD.
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spelling pubmed-85583782021-11-02 Comprehensive Analysis of LIN28A in Chinese Patients With Early Onset Parkinson’s Disease Gu, Xiaojing Hou, Yanbing Chen, Yongping Ou, Ruwei Cao, Bei Wei, Qianqian Zhang, Lingyu Song, Wei Zhao, Bi Wu, Ying Shang, Huifang Front Genet Genetics A loss-of-function variant in Lin-28 Homolog A gene (LIN28A p. R192G, rs558060339) has been identified in two East Asian ancestry patients with early-onset PD (EOPD). Functional studies revealed that such a variant could lead to developmental defects and PD-related phenotype, and the phenotypes could be rescued after correction of the variant. The aim of the study was to screen the variants of LIN28A in Chinese patients with EOPD. A total of 682 EOPD patients were sequenced with whole exome sequencing and the coding and flanking region of LIN28A were analyzed. We identified a rare coding variant, p. P182L, of LIN28A in a Chinese patient with EOPD. Moreover, we also found a 3′-UTR polymorphism (rs4659441) to be associated with an increased risk for PD. However, our rare variant burden analysis did not support a role for LIN28A as a major causal gene for PD. Frontiers Media S.A. 2021-10-18 /pmc/articles/PMC8558378/ /pubmed/34733315 http://dx.doi.org/10.3389/fgene.2021.740096 Text en Copyright © 2021 Gu, Hou, Chen, Ou, Cao, Wei, Zhang, Song, Zhao, Wu and Shang. 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
Gu, Xiaojing
Hou, Yanbing
Chen, Yongping
Ou, Ruwei
Cao, Bei
Wei, Qianqian
Zhang, Lingyu
Song, Wei
Zhao, Bi
Wu, Ying
Shang, Huifang
Comprehensive Analysis of LIN28A in Chinese Patients With Early Onset Parkinson’s Disease
title Comprehensive Analysis of LIN28A in Chinese Patients With Early Onset Parkinson’s Disease
title_full Comprehensive Analysis of LIN28A in Chinese Patients With Early Onset Parkinson’s Disease
title_fullStr Comprehensive Analysis of LIN28A in Chinese Patients With Early Onset Parkinson’s Disease
title_full_unstemmed Comprehensive Analysis of LIN28A in Chinese Patients With Early Onset Parkinson’s Disease
title_short Comprehensive Analysis of LIN28A in Chinese Patients With Early Onset Parkinson’s Disease
title_sort comprehensive analysis of lin28a in chinese patients with early onset parkinson’s disease
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8558378/
https://www.ncbi.nlm.nih.gov/pubmed/34733315
http://dx.doi.org/10.3389/fgene.2021.740096
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