Abstract
Mutations of the CPT2 gene cause CPT2 deficiency and affect the β-oxidation of fatty acids. This study examined the consequence of a polymorphism of rs1799822 in the CPT2 gene with respect to EV71 encephalitis in Chinese children. The study included 406 cases of both mild and severe EV71 infection diagnosed by RT-PCR, together with controls (n = 348). We used an improved multiplex ligation detection reaction technique to detect the polymorphism of rs1799822 in the CPT2 gene. The frequency of the (AG+GG) genotype and G allele in the EV71 infection group and in the severe EV71 encephalitis group was significantly lower than in the control group (p = 0.012 vs. p = 0.005, and p = 0.022 vs. p = 0.006, respectively). The frequency of the (AG+GG) genotype and G allele in the severe EV71 encephalitis group was markedly lower than in the mild EV71 encephalitis group (p = 0.045, p = 0.033). The ATP levels in the blood of the (AG+GG) genotype were distinctly higher than in the AA genotype in mild and severe EV71 encephalitis patients (P = 0.037, P = 0.040). A polymorphism of rs1799822 in the CPT2 gene is associated with the severity of EV71 encephalitis and may be one of the protection factors of severe EV71 encephalitis.
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Acknowledgements
This study was supported by the National Natural Science Foundation of China (grant number 31640047). The authors wish to thank Dr. Yu Zhang of Qingdao Municipal Hospital, who performed the ophthalmic examination, and Genesky Biotechnologies Inc. (Shanghai, China), who assisted with the genetic analysis. The authors thank their patients and families.
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Guo, Y., Zhang, Y., Liu, P. et al. Association of the Polymorphism of rs1799822 on Carnitine Palmitoyltransferase II Gene with Severe Enterovirus 71 Encephalitis in Chinese Children. J Mol Neurosci 69, 188–196 (2019). https://doi.org/10.1007/s12031-019-01348-2
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DOI: https://doi.org/10.1007/s12031-019-01348-2