Genetic analysis of TRIM family genes for early-onset Parkinson's disease in Chinese population
Copyright © 2021 Elsevier Ltd. All rights reserved..
INTRODUCTION: Amounting evidence has suggested the Tripartite Motif (TRIM) family proteins as related to Parkinson's disease (PD). However, many of the risk genes were still awaiting further explorations, and their genetic role in PD has not been investigated yet.
METHODS: Here, we aimed to systematically evaluate the genetic associations of TRIMs with PD in a large Chinese early-onset PD (EOPD, age at onset < 50 years) cohort. We identified rare variants (minor allele frequency < 0.01) in 743 unrelated EOPD patients using whole exome sequencing, and evaluated the association between rare variants and EOPD at allele and gene levels.
RESULTS: Totally 123 rare variants were identified in 13 TRIM protein family members, including TRIM3, TRIM6, TRIM8, TRIM9, TRIM10, TRIM11, TRIM17, TRIM24, TRIM27, TRIM28, TRIM34, TRIM40 and TRIM41. At the allele level, three variants were nominally associated with PD, namely p.R65H in TRIM10, p.P467S in TRIM11, and p.I425V in TRIM24. Gene-based burden analysis showed a clear enrichment of rare variants of TRIM24 in EOPD.
CONCLUSION: These results demonstrate TRIM24 as a potential risk gene for PD, provide a better understanding for the genetic involvement of TRIM protein family members in EOPD and broaden the current mutation spectrum of PD.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2021 |
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| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:90 |
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| Enthalten in: |
Parkinsonism & related disorders - 90(2021) vom: 30. Sept., Seite 105-113 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Li, ChunYu [VerfasserIn] |
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| Links: |
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| Themen: |
Early-onset Parkinson's disease |
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| Anmerkungen: |
Date Completed 11.02.2022 Date Revised 07.12.2022 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.parkreldis.2021.08.005 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM329631780 |
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| 245 | 1 | 0 | |a Genetic analysis of TRIM family genes for early-onset Parkinson's disease in Chinese population |
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| 500 | |a Date Revised 07.12.2022 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2021 Elsevier Ltd. All rights reserved. | ||
| 520 | |a INTRODUCTION: Amounting evidence has suggested the Tripartite Motif (TRIM) family proteins as related to Parkinson's disease (PD). However, many of the risk genes were still awaiting further explorations, and their genetic role in PD has not been investigated yet | ||
| 520 | |a METHODS: Here, we aimed to systematically evaluate the genetic associations of TRIMs with PD in a large Chinese early-onset PD (EOPD, age at onset < 50 years) cohort. We identified rare variants (minor allele frequency < 0.01) in 743 unrelated EOPD patients using whole exome sequencing, and evaluated the association between rare variants and EOPD at allele and gene levels | ||
| 520 | |a RESULTS: Totally 123 rare variants were identified in 13 TRIM protein family members, including TRIM3, TRIM6, TRIM8, TRIM9, TRIM10, TRIM11, TRIM17, TRIM24, TRIM27, TRIM28, TRIM34, TRIM40 and TRIM41. At the allele level, three variants were nominally associated with PD, namely p.R65H in TRIM10, p.P467S in TRIM11, and p.I425V in TRIM24. Gene-based burden analysis showed a clear enrichment of rare variants of TRIM24 in EOPD | ||
| 520 | |a CONCLUSION: These results demonstrate TRIM24 as a potential risk gene for PD, provide a better understanding for the genetic involvement of TRIM protein family members in EOPD and broaden the current mutation spectrum of PD | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Early-onset Parkinson's disease | |
| 650 | 4 | |a Genetics | |
| 650 | 4 | |a Mutation | |
| 650 | 4 | |a TRIMs | |
| 650 | 7 | |a Tripartite Motif Proteins |2 NLM | |
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| 700 | 1 | |a Gu, XiaoJing |e verfasserin |4 aut | |
| 700 | 1 | |a Wei, QianQian |e verfasserin |4 aut | |
| 700 | 1 | |a Cao, Bei |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, LingYu |e verfasserin |4 aut | |
| 700 | 1 | |a Liu, KunCheng |e verfasserin |4 aut | |
| 700 | 1 | |a Chen, XuePing |e verfasserin |4 aut | |
| 700 | 1 | |a Song, Wei |e verfasserin |4 aut | |
| 700 | 1 | |a Zhao, Bi |e verfasserin |4 aut | |
| 700 | 1 | |a Wu, Ying |e verfasserin |4 aut | |
| 700 | 1 | |a Shang, HuiFang |e verfasserin |4 aut | |
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