title: Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy.
abstract: BACKGROUND
  Carnitine palmitoyltransferase (CPT) II is one of a pivotal enzyme in mitochondrial fatty acid oxidation, which is essential for energy production during simultaneous glucose sparing and a requirement for major energy supply, such as prolonged fasting or exercise. When infants require more energy than provided by the glycolytic system, they rely on the mitochondrial fatty acid oxidation pathway. Mutations of the CPT2 gene have been reported to cause sudden unexpected death in infancy (SUDI). A thermolabile phenotype of a CPT2 polymorphism (F352C) has been recently reported to reduce CPT II enzyme activity. The F352C variant results in energy crisis at high temperature and is suspected as a risk factor for acute encephalopathy. However, a relationship between CPT2 gene polymorphism and SUDI has not been described.
  
  
  METHODS
  Single nucleotide polymorphisms of the CPT2 gene were investigated among 54 SUDI cases and 200 healthy volunteers.
  
  
  RESULTS
  The frequency of the C allele was significantly higher in the SUDI group than in the control group [25.0% vs 16.0%, odds ratio (OR)=1.75, 95% confidence interval (CI)=1.05-2.92, p=0.030). The frequency of the F352C homozygote was significantly higher in the SUDI group than in control group (11.1% vs 3.5%, OR=3.45, 95% CI=1.11-10.73, p=0.036).
  
  
  CONCLUSIONS
  The F352C CPT2 variant might be a genetic risk factor for SUDI.
authors: Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, Japan; Department of Legal Medicine, Osaka University Graduate School of Medicine, Japan. Electronic address: t-yamamoto@nagasaki-u.ac.jp.
authors: Takuma
authors: T
authors: Yamamoto
authors: Laboratory of Pharmacology, Department of Biomedical Sciences, College of Life Sciences, Ritsumeikan University, Japan.
authors: Hidekazu
authors: H
authors: Tanaka
authors: Department of Legal Medicine, Osaka University Graduate School of Medicine, Japan.
authors: Yuko
authors: Y
authors: Emoto
authors: Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, Japan.
authors: Takahiro
authors: T
authors: Umehara
authors: Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, Japan; Forensic Science Laboratory, Nagasaki Prefectural Police Headquarters, Japan.
authors: Yuki
authors: Y
authors: Fukahori
authors: Department of Legal Medicine, Osaka University Graduate School of Medicine, Japan.
authors: Yukiko
authors: Y
authors: Kuriu
authors: Department of Legal Medicine, Osaka University Graduate School of Medicine, Japan.
authors: Ryoji
authors: R
authors: Matoba
authors: Division of Forensic Pathology and Science, Unit of Social Medicine, Course of Medical and Dental Sciences, Graduate School of Biomedical Sciences, Nagasaki University School of Medicine, Japan.
authors: Kazuya
authors: K
authors: Ikematsu
mesh_terms: D002334:Carnitine O-Palmitoyltransferase / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D060005:Genotyping Techniques; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies; D012307:Risk Factors; D013398:Sudden Infant Death / Q000235:genetics*
chemical_list: D002334:Carnitine O-Palmitoyltransferase
keywords: Carnitine palmitoyltransferase II; Metabolic crisis; Polymorphism; Sudden unexpected death in infancy