ArticlePediatric research2010
Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription.
Article in Pediatric research, 2010. 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 20 papers.
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.
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
20 citing papers in PubMed, 39 citations in OpenAlex.
- Identification of gestational-age-dependent cell-free fetal mRNA transcriptional changes in human amniotic fluid.Journal of human genetics · 2026Article
- Genetic Disorders of Surfactant Metabolism.NeoReviews · 2025Review
- Surfactant Protein-C Regulates Alveolar Type 2 Epithelial Cell Lineages via the CD74 Receptor.Journal of respiratory biology and translational medicine · 2024Article
- Innovations in Childhood Interstitial and Diffuse Lung Disease.Clinics in chest medicine · 2024Review
- Humanized L184Q Mutated Surfactant Protein C Gene Alters Alveolar Type 2 Epithelial Cell Fate.International journal of molecular sciences · 2024Article
- Single Nucleotide Polymorphisms Interactions of the Surfactant Protein Genes Associated With Respiratory Distress Syndrome Susceptibility in Preterm Infants.Frontiers in pediatrics · 2021Article
- Article
- Alveolar Dynamics and Beyond - The Importance of Surfactant Protein C and Cholesterol in Lung Homeostasis and Fibrosis.Frontiers in physiology · 2020Review
- Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population.World journal of pediatrics : WJP · 2018Article
- Genetic Association of Pulmonary Surfactant Protein Genes, SFTPA1, SFTPA2, SFTPB, SFTPC, and SFTPD With Cystic Fibrosis.Frontiers in immunology · 2018Article
- Regulation of p53-mediated changes in the uPA-fibrinolytic system and in lung injury by loss of surfactant protein C expression in alveolar epithelial cells.American journal of physiology. Lung cellular and molecular physiology · 2017Article
- Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.World journal of pediatrics : WJP · 2016Article
- Genetic Factors Contribute to Risk for Neonatal Respiratory Distress Syndrome among Moderately Preterm, Late Preterm, and Term Infants.The Journal of pediatrics · 2016Article
- Surfactant proteins in pediatric interstitial lung disease.Pediatric research · 2016Article
- Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks).American journal of medical genetics. Part A · 2014Article
- Genotype-phenotype correlations for infants and children with ABCA3 deficiency.American journal of respiratory and critical care medicine · 2014Article
- Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome.The Journal of pediatrics · 2014Article
- Persistence of LPS-induced lung inflammation in surfactant protein-C-deficient mice.American journal of respiratory cell and molecular biology · 2013Article
- Genetic replacement of surfactant protein-C reduces respiratory syncytial virus induced lung injury.Respiratory research · 2013Article
- Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Dominant mutations in coding regions of the surfactant protein-C gene, SFTPC, cause respiratory distress syndrome (RDS) in infants. However, the contribution of variants in noncoding regions of SFTPC to pulmonary phenotypes is unknown. By using a case-control group of infants > or =34 weeks gestation (n = 538), we used complete resequencing of SFTPC and its promoter, genotyping, and logistic regression to identify 80 single nucleotide polymorphisms (SNPs). Three promoter SNPs were statistically associated with neonatal RDS among European descent infants. To assess the transcriptional effects of these three promoter SNPs, we selectively mutated the SFTPC promoter and performed transient transfection using MLE-15 cells and a firefly luciferase reporter vector. Each promoter SNP decreased SFTPC transcription. The combination of two variants in high linkage dysequilibrium also decreased SFTPC transcription. In silico evaluation of transcription factor binding demonstrated that the rare allele at g.-1167 disrupts a SOX (SRY-related high mobility group box) consensus motif and introduces a GATA-1 site, at g.-2385 removes a MZF-1 (myeloid zinc finger) binding site, and at g.-1647 removes a potential methylation site. This combined statistical, in vitro, and in silico approach suggests that reduced SFTPC transcription contributes to the genetic risk for neonatal RDS in developmentally susceptible infants.
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.