Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population
| Autor: | Heins Hillary, Kelcey DePass, Daniel J. Wegner, Xin Fan, Jennifer A. Wambach, F. Sessions Cole, Aaron Hamvas, Julia Meyer, Qun Yuan Zhang, Yu Jun Chen |
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| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine China Candidate gene Population Gestational Age Cohort Studies 03 medical and health sciences 0302 clinical medicine Asian People Gene Frequency 030225 pediatrics Human population genetics Genetic variation Birth Weight Humans Medicine Genetic Predisposition to Disease Allele education Allele frequency Exome sequencing Retrospective Studies Genetics Respiratory Distress Syndrome Newborn education.field_of_study business.industry Incidence Infant Newborn Genetic Variation Sequence Analysis DNA Survival Analysis Minor allele frequency 030104 developmental biology Mutation Pediatrics Perinatology and Child Health Phosphatidylcholines ATP-Binding Cassette Transporters Female business Signal Transduction |
| Zdroj: | World Journal of Pediatrics. 14:52-56 |
| ISSN: | 1867-0687 1708-8569 |
| DOI: | 10.1007/s12519-017-0109-3 |
| Popis: | To determine population-based prevalence and disease contribution of phosphatidylcholine synthetic pathway-associated gene variants in a native southern Chinese cohort. We 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. We 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. The 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. |
| Databáze: | OpenAIRE |
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