Evidence map›Paper›PMID 36187926›Full record

ArticleComputational and structural biotechnology journal2022

Rare-variant collapsing analyses identified risk genes for neonatal acute respiratory distress syndrome.

Huiyao Chen, Xiang Chen, Liyuan Hu, Chang Ye, Jiantao Zhang, Guoqiang Cheng, Lin Yang, Yulan Lu, Xinran Dong, Wenhao Zhou

Registry-linked trialAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Computational and structural biotechnology journal, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03931707 (The China Neonatal Genomes Project), which is not on this map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

What it found

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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.

NCT03931707 recruitingnot on this map

The China Neonatal Genomes Project

TypeobservationalSponsorChildren's Hospital of Fudan UniversityRan2016 to 2026Enrolled100,000ConditionsNewborn, Hereditary Disease, Genetic Predisposition to Disease, Defect, CongenitalArmsGenomic sequencing
3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
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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.

Huiyao ChenCenter for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
Xiang ChenDepartments of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.
Liyuan HuDepartments of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.
Chang YeDepartments of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.
Jiantao ZhangDepartments of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.
Guoqiang ChengDepartments of Neonatology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.
Lin YangCenter for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
Yulan LuCenter for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.
Xinran DongCenter for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China.
Wenhao ZhouCenter for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Acute respiratory distress syndrome (ARDS) could account for a considerable proportion of neonatal death, while the genetic etiology and pathophysiology of neonatal ARDS remain elusive. In this case-control study, 515 neonates were enrolled in the China Neonatal Genomes Project (CNGP, NCT03931707) from August 2016 to June 2021, including 196 ARDS and 319 non-ARDS matched by sex, gestational age, birth weight, perinatal asphyxia, pneumonia, sepsis, and necrotizing enterocolitis. Clinical exome sequencing was used to detect genetic variants. Collapsing analyses together with permutation tests were used to identify ARDS risk genes enriched for rare variants in ARDS samples. In silico functional interaction analysis and expression pattern studies at different stages of lung development were used to investigate the biological functions of the risk genes. Results: Collapsing analyses identified that rare variants were significantly abundant in the genes associated with the precursor of the lamellar body and there were eight predicted risk genes with strong confidence ( Conclusions: In our study, the genes associated with pulmonary surfactant storage and release were highly enriched with rare variants. A novel neonatal ARDS risk gene

Indexed as

Acute respiratory distress syndromeCollapsing analysesNeonatesRare variantRisk gene

Identifiers

PMID36187926
PMCPMC9486038

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