title: Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.
abstract: BACKGROUND
  Rare mutations in surfactant-associated genes contribute to neonatal respiratory distress syndrome. The frequency of mutations in these genes in the Chinese population is unknown.
  
  
  METHODS
  We 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.
  
  
  RESULTS
  We 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).
  
  
  CONCLUSIONS
  The 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.
authors.affiliation: Division of Neonatology, Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning, China.|Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, USA.
authors.forename: Yu-Jun
authors.initials: YJ
authors.lastname: Chen
authors.affiliation: Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, USA.
authors.forename: Jennifer Anne
authors.initials: JA
authors.lastname: Wambach
authors.affiliation: Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, USA.
authors.forename: Kelcey
authors.initials: K
authors.lastname: DePass
authors.affiliation: Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, USA.
authors.forename: Daniel James
authors.initials: DJ
authors.lastname: Wegner
authors.affiliation: Department of Pediatrics, Guangxi Maternal and Child Health Hospital, Nanning, China.
authors.forename: Shao-Ke
authors.initials: SK
authors.lastname: Chen
authors.affiliation: Division of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St. Louis, USA.
authors.forename: Qun-Yuan
authors.initials: QY
authors.lastname: Zhang
authors.affiliation: Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, USA.
authors.forename: Hillary
authors.initials: H
authors.lastname: Heins
authors.affiliation: Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, USA.
authors.forename: Francis Sessions
authors.initials: FS
authors.lastname: Cole
authors.affiliation: Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, USA. ahamvas@luriechildrens.org.|Division of Neonatology, Ann and Robert H. Lurie Children's Hospital, 225 E. Chicago Ave, Box No. 45, Chicago, IL, 60611, USA. ahamvas@luriechildrens.org.
authors.forename: Aaron
authors.initials: A
authors.lastname: Hamvas
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D044466:Asian People; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017563:Lung Diseases, Interstitial / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D009154:Mutation; D037701:Pulmonary Surfactant-Associated Protein B / Q000235:genetics*; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics*
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; D037701:Pulmonary Surfactant-Associated Protein B; D037721:Pulmonary Surfactant-Associated Protein C
keywords: genetic epidemiology; human population genetics; neonatal respiratory distress syndrome; pulmonary surfactant