title: [Pulmonary surfactant associated gene variants in mixed ethnic population of Han and Zhuang].
abstract: OBJECTIVE
  To explore the prevalence of pulmonary surfactant associated pathway genes functional variants in Chinese population.
  
  
  METHODS
  Using a cohort of 258 mixed ethnic population of Han and Zhuang, we pooled DNA samples from 146 term male infants and 112 term female infants and then used an Ill umina next generation sequencing platform to perform the complete exonic resequencing in 6 target genes:surfactant protein-B (SFTPB), surfactant protein-C (SFTPC), ATP-binding cassette transporter A3 (ABCA3), lysophospholipid acyltransferase 1 (LPCAT1), choline phosphotransferase 1 (CHPT1), phosphate cytidylyltransferase 1, choline, beta (PCYT1B). Collapsing methods was used to determine the functional allele frequency.
  
  
  RESULTS
  (1) Altogether, 128 variants were found, including 44 synonymous variants, 66 nonsynonymous variants and 18 insertions-deletions. Of these, 28 variants were predicted to alter protein function. Two of these variants were seen twice, the rest variants were only seen once, for a total of 30 functional alleles; (2) ABCA3 had the most functional variants in both male and female groups with the minor allele frequencies of 0.014 (1.4%) and 0.04 (4%), respectively. The total functional allele frequencies of 6 genes were 0.041 (4.1%) and 0.08 (8%) in the two groups, respectively (P = 0.06).
  
  
  CONCLUSIONS
  (1) Functional variants in pulmonary surfactant associated pathway genes are present in the mixed Han-Zhuang population. (2) ABCA3 contained the most functional variants suggesting that ABCA3 could contribute significantly to neonatal respiratory distress syndrome and other lung disease.
authors.affiliation: Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China.
authors.forename: Yu-jun
authors.initials: YJ
authors.lastname: Chen
authors.forename: Shao-ke
authors.initials: SK
authors.lastname: Chen
authors.forename: Kelcey
authors.initials: K
authors.lastname: DePass
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Wegner
authors.forename: Aaron
authors.initials: A
authors.lastname: Hamvas
authors.forename: Guang-min
authors.initials: GM
authors.lastname: Nong
authors.forename: Ya-zhou
authors.initials: YZ
authors.lastname: Wang
authors.forename: Xin
authors.initials: X
authors.lastname: Fan
authors.forename: Jing-si
authors.initials: JS
authors.lastname: Luo
mesh_terms: D008243:1-Acylglycerophosphocholine O-Acyltransferase / Q000235:genetics* / Q000378:metabolism; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D002681:China / Q000208:ethnology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics; D037661:Pulmonary Surfactant-Associated Proteins / Q000235:genetics*; D012127:Respiratory Distress Syndrome, Newborn / Q000208:ethnology / Q000235:genetics*
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters; D037721:Pulmonary Surfactant-Associated Protein C; D037661:Pulmonary Surfactant-Associated Proteins; C489679:SFTPC protein, human; D008243:1-Acylglycerophosphocholine O-Acyltransferase