Evidence map›Paper›PMID 32393399›Full record

ArticleHuman genomics2020

Identification of rare and common variants in BNIP3L: a schizophrenia susceptibility gene.

Juan Zhou, Chuanchuan Ma, Ke Wang, Xiuli Li, Xuemin Jian, Han Zhang, Jianmin Yuan, Jiajun Yin, Jianhua Chen, Yongyong Shi

Open access · goldAbstract read
In one paragraph

Article in Human genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
0.6field-weighted citation impact, top 39% 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

9 citing papers in PubMed, 13 citations in OpenAlex.

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  7. Genetic Analysis ofBalkan medical journal · 2022
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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

10 authors at 2 institutions in 3 countries.

Juan ZhouBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, 200030, People's Republic of China.ORCID 0000-0003-1588-2168
Chuanchuan MaBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, 200030, People's Republic of China.
Ke WangBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, 200030, People's Republic of China.
Xiuli LiBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, 200030, People's Republic of China.
Xuemin JianBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, 200030, People's Republic of China.
Han ZhangBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, 200030, People's Republic of China.
Jianmin YuanBrain Science Basic Laboratory, The Affiliated Wuxi Mental Health Center With Nanjing Medical University, Wuxi, 214151, Jiangsu Province, People's Republic of China.
Jiajun YinBrain Science Basic Laboratory, The Affiliated Wuxi Mental Health Center With Nanjing Medical University, Wuxi, 214151, Jiangsu Province, People's Republic of China.
Jianhua ChenShanghai Clinical Research Center for Mental Health, Shanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, People's Republic of China. chenjhv@smhc.org.cn.
Yongyong ShiBio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, 200030, People's Republic of China. shiyongyong@gmail.com.
Shanghai Jiao Tong University · CNWuxi People's Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSchizophrenia is a chronic and severe mental disorder, and it has been predicted to be highly polygenic. Common SNPs located in or near BNIP3L were found to be genome-wide significantly associated with schizophrenia in recent genome-wide association studies. The purpose of our study is to investigate potential causal variants in BNIP3L gene.

resultsWe performed targeted sequencing for all exons and un-translated regions of BNIP3L gene among 1806 patients with schizophrenia and 998 healthy controls of Han Chinese origin. Three rare nonsynonymous mutations, BNIP3L (NM_004331): c.52A>G, c.167G>A and c.313A>T, were identified in schizophrenia cases, and two of them were newly reported. The frequencies of these rare nonsynonymous mutations were significantly different between schizophrenia cases and healthy controls. For the common variants, rs147389989 achieved significance in both allelic and genotypic distributions with schizophrenia. Rs1042992 and rs17310286 were significantly associated with schizophrenia in meta-analyses using PGC, CLOZUK, and our new datasets in this study.

conclusionsOur findings provided further evidence that BNIP3L gene is a susceptibility gene of schizophrenia and revealed functional and potential causal mutations in BNIP3L. However, more functional validations are suggested to better understand the role of BNIP3L in the etiology of schizophrenia.

Indexed as

Genetic Predisposition to DiseaseGenome-Wide Association StudyPolymorphism, Single NucleotideAdultCase-Control StudiesFemaleHumansMaleMembrane ProteinsMiddle AgedProto-Oncogene ProteinsSchizophreniaTumor Suppressor ProteinsBNIP3L protein, humanMembrane ProteinsProto-Oncogene ProteinsTumor Suppressor ProteinsBNIP3L geneCase–control studySchizophreniaTargeted next-generation sequencing

Identifiers

PMID32393399
PMCPMC7212671
OpenAlexW3026262048

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Registered trials

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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.