title: Association of CPT II gene with risk of acute encephalitis in Chinese children.
abstract: BACKGROUND
  Mutations of the CPT II gene cause CPT II deficiency, an inborn metabolic error affecting mitochondrial fatty acid β-oxidation. Associations and mechanisms of CPT II gene with acute encephalitis need to be elucidated. We aimed to investigate the associations of CPT II gene variants and CPT II activity with development of acute encephalitis.
  
  
  METHODS
  A total of 440 blood-unrelated Chinese children with acute encephalitis and 229 healthy controls were enrolled in this case control study. Sequencing of 5 exons of the CPT II gene was carried out to look for the variants associated with acute encephalitis. CPT II activity and blood adenosine triphosphate concentration were examined during high fever and convalescent phase to confirm the hypothesis.
  
  
  RESULTS
  Polymorphism of rs2229291 in CPT II gene was significantly associated with an increased risk of acute encephalitis (P = 0.031), where as rs1799821 displayed a decrease risk (P = 0.018). Positive association was found between rs2229291 and patients with fever at onset of seizure and degree of pathogenetic condition (P = 0.018 and P = 0.023), but not for rs1799821. CPT II activity of patients with rs2229291 reduced greatly during high fever compared with the convalescent phase.
  
  
  CONCLUSIONS
  rs2229291 and rs1799821 variants in CPT II gene might be 1 of the predisposing factors of acute encephalitis.
authors.affiliation: From the *Stem Cell Center; †Department of Paediatrics; and ‡Department of Galactophore, The Affiliated Hospital of Medical College, Qingdao University, Qingdao, China.
authors.forename: Jianxia
authors.initials: J
authors.lastname: Hu
authors.forename: Zongbo
authors.initials: Z
authors.lastname: Chen
authors.forename: Xiaoyi
authors.initials: X
authors.lastname: Liu
authors.forename: Zhihong
authors.initials: Z
authors.lastname: Chen
authors.forename: Dandan
authors.initials: D
authors.lastname: Xin
authors.forename: Peipei
authors.initials: P
authors.lastname: Liu
mesh_terms: D000255:Adenosine Triphosphate / Q000097:blood; D044466:Asian People; D002334:Carnitine O-Palmitoyltransferase / Q000235:genetics* / Q000378:metabolism*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004660:Encephalitis / Q000276:immunology*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D000255:Adenosine Triphosphate; D002334:Carnitine O-Palmitoyltransferase