ArticleThe Journal of pediatrics2014
Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome.
Article in The Journal of pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 5 papers.
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.
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.
Epidemiology of Surfactant Protein-B Deficiency
Genetic Regulation of Surfactant Deficiency in Human Newborn Infants
Who cites it
5 citing papers in PubMed, 12 citations in OpenAlex.
- Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms ofMedicina (Kaunas, Lithuania) · 2024Article
- A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure.BMC medical genomics · 2021Article
- Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter.Cold Spring Harbor molecular case studies · 2020Article
- Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.American journal of respiratory cell and molecular biology · 2016Article
- Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.World journal of pediatrics : WJP · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo determine whether synonymous variants in the adenosine triphosphate-binding cassette A3 transporter (ABCA3) gene increase the risk for neonatal respiratory distress syndrome (RDS) in term and late preterm infants of European and African descent. STUDY
designUsing next-generation pooled sequencing of race-stratified DNA samples from infants of European and African descent at ≥34 weeks gestation with and without RDS (n = 503), we scanned all exons of ABCA3, validated each synonymous variant with an independent genotyping platform, and evaluated race-stratified disease risk associated with common synonymous variants and collapsed frequencies of rare synonymous variants.
resultsThe synonymous ABCA3 variant frequency spectrum differs between infants of European descent and those of African descent. Using in silico prediction programs and statistical strategies, we found no potentially disruptive synonymous ABCA3 variants or evidence of selection pressure. Individual common synonymous variants and collapsed frequencies of rare synonymous variants did not increase disease risk in term and late-preterm infants of European or African descent.
conclusionIn contrast to rare, nonsynonymous ABCA3 mutations, synonymous ABCA3 variants do not increase the risk for neonatal RDS among term and late-preterm infants of European or African descent.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.