Evidence map›Paper›PMID 36451215›Full record

ArticleHuman genomics2022

Lack of association of TP73 rare variants with amyotrophic lateral sclerosis in a Chinese cohort.

Chunyu Li, Yanbing Hou, Qianqian Wei, Junyu Lin, Qirui Jiang, Tianmi Yang, Yi Xiao, Jingxuan Huang, Yangfan Cheng, Ruwei Ou and 8 more

Open access · goldAbstract readLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 49% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Genetic and clinical analysis ofFrontiers in aging neuroscience · 2023
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors at 1 institution in 1 country.

Chunyu LiDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Yanbing HouDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Qianqian WeiDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Junyu LinDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Qirui JiangDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Tianmi YangDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Yi XiaoDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Jingxuan HuangDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Yangfan ChengDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Ruwei OuDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Kuncheng LiuDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Xueping ChenDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Wei SongDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Bi ZhaoDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Ying WuDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Bei CaoDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Yongping ChenDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China.
Huifang ShangDepartment of Neurology, Laboratory of Neurodegenerative Disorders, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, No.37, Guoxue Lane, Chengdu, 610041, Sichuan, China. hfshang2002@126.com.
Sichuan University · CN

Funding

1/2 Expanding Rapid Ascertainment Networks Of Schizophrenia Families In TaiwanR01MH085560 · NIMH · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI TSUANG, MING T. · 2008 to 2012
$5.8M
2/2-Expanding Rapid Ascertainment Networks Of Schizophrenia Families In TaiwanR01MH085521 · NIMH · UPSTATE MEDICAL UNIVERSITY · PI GLATT, STEPHEN J · 2008 to 2012
$1.5M
NIMH NIH HHS R01 MH085521NIMH NIH HHS R01 MH085560
6 · The paper itself

Abstract

backgroundRecently, several rare variants of TP73 were identified as potential disease cause for amyotrophic lateral sclerosis (ALS) in the European population. However, further replication was still necessary, especially in cohorts with different ethnic backgrounds.

methodsTo explore the genetic role of TP73 in ALS in the Asian population, we analyzed the rare protein-coding variants in 2011 patients with ALS and 3298 controls with whole-exome sequencing. Fisher's exact test was performed between each variant and disease risk, while at gene level over-representation of rare variants in patients was examined with optimized sequence kernel association test.

resultsTotally 24 rare variants with minor allele frequency < 0.01 were identified, among which nine were absent in controls. One variant p.P335T was previously reported, and another three variants were in the same amino acids as the variants reported in previous studies (p.R36Q, p.R414Q, p.R78C). At gene level, rare variants of TP73 were not enriched in patients.

conclusionsOur findings did not support the genetic role of TP73 in ALS in the Chinese population. Replication of specific variants identified in patients from different cohorts might provide additional insight. The current results also broadened the mutation spectrum of TP73 and paved the way for further research.

Indexed as

Amyotrophic Lateral SclerosisAsian PeopleChinaCohort StudiesEthnicityHumansMutant ProteinsMutant ProteinsAmyotrophic lateral sclerosisRare variantTP73

Identifiers

PMID36451215
PMCPMC9710084
OpenAlexW4310600154

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.