title: Investigation of the serum glucocorticoid kinase 1 gene in patients with transient tachypnea of the newborn.
abstract: OBJECTIVE
  The aim of this study was to investigate whether there is a role of the serum glucocorticoid kinase (SGK) 1 gene, which has an effect on the control of the epithelial sodium channels.
  
  
  METHODS
  This study included patients who were diagnosed with transient tachypnea of the newborn (TTN) with more than 37 weeks of gestation. As the control group, healthy newborns of the same gestational age were included. From each group, within the first 5 d of their lives, 2 cc of whole blood was taken in EDTA tubes, and stored at -80 °C. The DNA extraction was performed.
  
  
  RESULTS
  There were 32 patients in the TTN, and also 32 patients in the control group. The heterozygous allele rs1057293 (3/28) and rs1743966 (8/28) were located in the encoder region of the SGK 1 gene. In addition, in encoding region of the SGK 1 gene, the Arg97Ile (1/28), which causes the amino acid changes, had a genotype frequency of 0.0357, and a mutation was identified in Arg97Ile.
  
  
  CONCLUSIONS
  We have defined polymorphisms rs1057293 and rs1743966 in the SGK 1 gene, and the Arg97Ile mutation, for the first time in patients with TTN. This pilot study gave us some clues about a genetic basis of TTN phenotype, next to the lack of the pulmonary maturation.
authors: Department of Pediatrics, Division of Neonatology, Akdeniz University Medical School, Antalya, Turkey.
authors: Osman
authors: O
authors: Oztekin
authors: Mahmut
authors: M
authors: Akyol
authors: Salih
authors: S
authors: Kalay
authors: Gonul
authors: G
authors: Tezel
authors: Mustafa
authors: M
authors: Akcakus
authors: Nihal
authors: N
authors: Oygur
mesh_terms: D001724:Birth Weight / Q000235:genetics / Q000502:physiology; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005865:Gestational Age; D006801:Humans; D017874:Immediate-Early Proteins / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense / Q000502:physiology; D010865:Pilot Projects; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D059245:Transient Tachypnea of the Newborn / Q000235:genetics*; D000099184:Serum-Glucocorticoid Regulated Kinases
chemical_list: D017874:Immediate-Early Proteins; D017346:Protein Serine-Threonine Kinases; D000099184:Serum-Glucocorticoid Regulated Kinases