Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population
Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population作者机构：Neonatologythe First Affliated Hospital of GuangxiMedical UniversityNanningChina Division of Newborn MedicineEdward MallinckrodtDepartment of PediatricsWashington University Schoolof MedicineSt.LouisUSA
出 版 物：《World Journal of Pediatrics》 (世界儿科杂志（英文版）)
年 卷 期：2018年第14卷第1期
页 面：52-56页
核心收录：
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
基 金：the National Natural Science Foundation of China 81260094 National Institutes of Health R01 HL065174 R01 HL082747 K12 HL089968 K08 HL105891 Foundation of Health Department of Guangxi Zhuang Autonomous Region 2012059
主 题：Genetic epidemiology Human population genetics Neonatal respiratory distress syndrome Pulmonary surfactant
摘 要：Background To determine population-based prevalence and disease contribution of phosphatidylcholine synthetic pathway-associated gene variants in a native southern Chinese cohort. Methods 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. Results 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 popula-tions (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 vari-ants (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. Conclusions 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.
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