Evidence map›Paper›PMID 34886911›Full record

ArticleEuropean journal of medical research2021

Identification of ACOT13 and PTGER2 as novel candidate genes of autosomal dominant polycystic kidney disease through whole exome sequencing.

Na Du, Dan Dong, Luyao Sun, Lihe Che, Xiaohua Li, Yong Liu, Bin Wang

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

Article in European journal of medical research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.0field-weighted citation impact, top 20% 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

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3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 7 citations in OpenAlex.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

7 authors at 1 institution in 1 country.

Na DuInfectious Diseases Department, The First Hospital of Jilin University, No.1 Xinmin Street, Changchun, 130021, Jilin, China.
Dan DongDepartment of Obstetrics and Gynecology, The First Hospital of Jilin University, No.1 Xinmin Street, Changchun, 130021, Jilin, China.
Luyao SunInfectious Diseases Department, The First Hospital of Jilin University, No.1 Xinmin Street, Changchun, 130021, Jilin, China.
Lihe CheInfectious Diseases Department, The First Hospital of Jilin University, No.1 Xinmin Street, Changchun, 130021, Jilin, China.
Xiaohua LiInfectious Diseases Department, The First Hospital of Jilin University, No.1 Xinmin Street, Changchun, 130021, Jilin, China.
Yong Liu *Genetic Diagnosis Center, The First Hospital of Jilin University, No.1 Xinmin Street, Changchun, 130021, Jilin, China. liuyong0228@jlu.edu.cn.
Bin Wang *Infectious Diseases Department, The First Hospital of Jilin University, No.1 Xinmin Street, Changchun, 130021, Jilin, China. wangbinlucky2018@jlu.edu.cn.ORCID http://orcid.org/0000-0001-6200-0936
Jilin University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAutosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic kidney disorder. Half of the patients would slowly progress to end-stage renal disease. However, the potential target for ADPKD treatment is still lacking.

methodsFour ADPKD patients and two healthy family members were included in this study. The peripheral blood samples were obtained and tested by the whole exome sequencing (WES). The autosomal mutations in ADPKD patients were retained as candidate sites. The Gene Ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment, and protein-protein interaction network (PPI) analyses were performed by clusterProfiler R package. A dataset containing 18 ADPKD patients and three normal samples were downloaded from the Gene Expression Omnibus (GEO) database and analyzed using the limma R package.

resultsA total of six mutant genes were identified based on the dominant genetic pattern and most of them had not been reported to be associated with ADPKD. Furthermore, 19 harmful genes were selected according to the harmfulness of mutation. GO and KEGG enrichment analyses showed that the processes of single-organism cellular process, response to stimulus, plasma membrane, cell periphery, and anion binding as well as cyclic adenosine monophosphate (cAMP) signaling pathway and pathways in cancer were significantly enriched. Through integrating PPI and gene expression analyses, acyl-CoA thioesterase 13 (ACOT13), which has not been reported to be related to ADPKD, and prostaglandin E receptor 2 (PTGER2) were identified as potential genes associated with ADPKD.

conclusionsThrough combination of WES, gene expression, and PPI network analyses, we identified ACOT13 and PTGER2 as potential ADPKD-related genes.

Indexed as

Gene Expression RegulationExome SequencingFemaleHumansMalePedigreePolycystic Kidney, Autosomal DominantReceptors, Prostaglandin E, EP2 SubtypeRNAThiolester HydrolasesTomography, X-Ray ComputedACOT13 protein, humanPTGER2 protein, humanReceptors, Prostaglandin E, EP2 SubtypeRNAThiolester HydrolasesACOT13Gene mutationsPolycystic kidney diseasePTGER2Whole exome sequencing

Identifiers

PMID34886911
PMCPMC8656035
OpenAlexW4200472568

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