ArticleWorld journal of pediatrics : WJP2018
Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population.
Article in World journal of pediatrics : WJP, 2018. 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. Not yet cited in PubMed.
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Epidemiology of Surfactant Protein-B Deficiency
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0 citing papers in PubMed, 3 citations in OpenAlex.
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10 authors at 5 institutions in 2 countries.
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Abstract
backgroundTo determine population-based prevalence and disease contribution of phosphatidylcholine synthetic pathway-associated gene variants in a native southern Chinese cohort.
methodsWe used bloodspots from 2010 that were obtained from the Guangxi Neonatal Screening Center in Nannning China and included the Han (n = 443) and Zhuang (n = 313) ethnic groups. We sequenced the exons of cholinephosphate cytidylyltransferase (PCYT1B) lysophospholipid acyltransferase 1 (LPCAT1), and cholinephosphotransferase (CHPT1) genes, and analyzed both rare and common exonic variants.
resultsWe obtained five mutations (G199D, A299V, G434C, Y490C, L312S) with eight alleles in the three candidate genes. The collapsed minor allele frequency for candidate genes was not significantly different between the Han and Zhuang populations (0.0045 vs. 0.0064, respectively, P = 0.725). The combined Han and Zhuang pool collapsed carrier frequency of rare mutation allele was found to be 1.06%, which is much higher than previously reported for the Missouri population (0.1%). Further, we detected six exonic common variants (three in LPCAT1 and three in CHPT1), with three non-synonymous variants (F162S, F341L, M427K) among them. Two of the non-synonymous exonic variants (F341L, M427K) were not found in CHB; F341L was also not previously reported in exome sequencing project.
conclusionsThe population-based frequency of mutations in the phosphatidylcholine synthesis pathway-associated genes PCYT1B LPCAT1, CHPT1 is low in southern Chinese newborns and there is no evidence of contribution to population-based disease burden of respiratory distress syndrome. As a population-based study of rare mutations and common variants, this work is valuable in directing future research.
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