ArticleWorld journal of pediatrics : WJP2016
Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.
Article in World journal of pediatrics : WJP, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00014859 (Epidemiology of Surfactant Protein-B Deficiency), which is not on this map. Cited by 5 papers.
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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
Who cites it
5 citing papers in PubMed.
- Evaluation of the Copy Number Variants and Single-Nucleotide Polymorphisms ofMedicina (Kaunas, Lithuania) · 2024Article
- Chronic interstitial lung disease in children.European respiratory review : an official journal of the European Respiratory Society · 2018Review
- Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population.World journal of pediatrics : WJP · 2018Article
- Variants of the ABCA3 gene might contribute to susceptibility to interstitial lung diseases in the Chinese population.Scientific reports · 2017Article
- Progress in pediatrics in 2015: choices in allergy, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, nephrology, neurology, nutrition, oncology and pulmonology.Italian journal of pediatrics · 2016Review
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Authors and funding
9 authors.
Funding
Abstract
backgroundRare mutations in surfactant-associated genes contribute to neonatal respiratory distress syndrome. The frequency of mutations in these genes in the Chinese population is unknown.
methodsWe obtained blood spots from the Guangxi Neonatal Screening Center in Nanning, China that included Han (n=443) and Zhuang (n=313) ethnic groups. We resequenced all exons of the surfactant proteins-B (SFTPB), -C (SFTPC), and the ATP-binding cassette member A3 (ABCA3) genes and compared the frequencies of 5 common and all rare variants.
resultsWe found minor differences in the frequencies of the common variants in the Han and Zhuang cohorts. We did not find any rare mutations in SFTPB or SFTPC, but we found three ABCA3 mutations in the Han [minor allele frequency (MAF)=0.003] and 7 in the Zhuang (MAF=0.011) cohorts (P=0.10). The ABCA3 mutations were unique to each cohort; five were novel. The collapsed carrier rate of rare ABCA3 mutations in the Han and Zhuang populations combined was 1.3%, which is significantly lower than that in the United States (P<0.001).
conclusionThe population-based frequency of mutations in ABCA3 in south China newborns is significantly lower than that in United States. The contribution of these rare ABCA3 mutations to disease burden in the south China population is still unknown.
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