Carnitine palmitoyl transferase 2 polymorphism may be associated with enterovirus 71 severe infection in a Chinese population

• Published in: Archives of virology Vol. 161; no. 5; pp. 1217 - 1227
• Main Authors: Liu, Peipei, Liu, Xiangping, Hu, Jingfei, Han, Zhenliang, Li, Fei, Wang, Yuanyuan, Song, Long, Chen, Zongbo
• Format: Journal Article
• Language: English
• Published: Vienna Springer Vienna 01.05.2016; Springer Nature B.V
• Subjects: adenosine triphosphate; Adenosine Triphosphate - blood; Alleles; Asian Continental Ancestry Group - genetics; Biomedical and Life Sciences; Biomedicine; blood; Carnitine; Carnitine O-Palmitoyltransferase - genetics; carnitine palmitoyltransferase; Child, Preschool; China; Chinese people; CPT2 gene; Disease Susceptibility - virology; Encephalopathy; Enterovirus; Enterovirus A; Enterovirus A, Human - pathogenicity; Enterovirus Infections - genetics; Enterovirus Infections - virology; Exons; Female; Gene Frequency; Gene polymorphism; Genotype; Haplotypes; Humans; Infections; Infectious Diseases; Inflammation; Male; Medical Microbiology; Original Article; patients; polymerase chain reaction; Polymorphism; Population genetics; Reverse Transcriptase Polymerase Chain Reaction; risk; Severity of Illness Index; Single-nucleotide polymorphism; Susceptibility; Viral Load; Virology; China; Acute Encephalopathy; White Blood Cell Count Count; Acute Necrotizing Encephalopathy; EV71 Infection; Mild Case
• ISSN: 0304-8608; 1432-8798
• DOI: 10.1007/s00705-016-2785-z

Genetic polymorphism in the carnitine palmitoyl transferase 2 (CPT2) gene has been reported to be a susceptibility factor in a number of syndromes of acute encephalopathy with various infectious diseases, but evidence of its effect on enterovirus 71 (EV71) infection is lacking. The goal of this study was to examine the relationship between genetic polymorphism of CPT2 and severity of EV71 infection in a Chinese population. PCR of five exons of the CPT2 gene was carried out to identify single-nucleotide polymorphisms (SNPs) in EV71-infected subjects (n = 333), including mild cases (n = 271) and severe cases (n = 62) as well as healthy controls (n = 328). Blood ATP levels were measured within 24 h of admission. The frequency of the A allele of rs1799821 (P = 0.023) and the G allele of rs2229291 (P = 0.009) in the CPT2 gene was higher in patients with severe EV71 infection. The A-G haplotype of rs1799821and rs2229291 was directly linked to EV71 severe infection risk when compared to all other haplotypes (OR = 2.005, 95 % CI = 1.087-3.700, P = 0.024). The blood ATP levels of severe cases were significantly lower than in mild cases (P < 0.01) and controls (P < 0.01). A significant negative correlation was observed in haplotype A-G between ATP levels and physical findings in severe cases (P < 0.05). These findings suggest that CPT2 polymorphism may be associated with severity of EV71 infection and that the A-G haplotype of the CPT2 gene is involved in the inflammatory process of EV71 infection.