Objective: To determine whether the 616 C/G single nucleotide polymorphism(SNP) in the dopamine D4 receptor(DRD4) promoter rs747302 was associated with abnormal whole-brain cerebral metabolic rate of oxygen(CMRO2), cerebral blood flow(CBF) and oxygen extraction fraction(OEF) in children that suffer from primary nocturnal enuresis(PNE） using T2-relaxation-under-spin-tagging(TRUST) methodology. Methods: Genomic and TRUST imaging data were obtained from 56 PNE pediatric patients and 58 healthy controls. SNP of rs747302 was genotyped. TRUST imaging data were collected on a 3.0-Tesla MR scanner, OEF and CMRO2 data were calculated using an in-house package. OEF and CMRO2 were compared between different group(PNE/control) and genotype(C/G) using two-way ANCOVA analysis. Results: Group-genotype interactions were found in OEF and CMRO2, post-hoc testing demonstrated that the C-allele carriers in the PNE group had a significantly increased OEF and CMRO2. Conclusion: Among PNE children, C-allele carriers of rs747302 are associated with abnormal OEF and CMRO2.
Key words
Enuresis /
Receptors, dopamine /
Child /
Magnetic resonance imaging
{{custom_sec.title}}
{{custom_sec.title}}
{{custom_sec.content}}
References
[1]Sarici H, Telli O, Ozgur BC, et al. Prevalence of nocturnal enuresis and its influence on quality of life in school-aged children[J]. J Pediatr Urol, 2016, 12(3): 159e151-e156.
[2]Wei CC, Wan L, Lin WY, et al. Rs 6313 polymorphism in 5-hydroxytryptamine receptor 2A gene association with polysymptomatic primary nocturnal enuresis[J]. J Clin Lab Anal, 2010, 24(6): 371-375.
[3]戴晓梅，麻宏伟，卢瑶，等. 多巴胺D4受体基因多态性与原发性夜间遗尿症的关联研究[J]. 中国当代儿科杂志，2008，10（5）：607-610.
[4]Ge Y, Zhang Z, Lu H, et al. Characterizing brain oxygen metabolism in patients with multiple sclerosis with T2-relaxation-under-spin-tagging MRI[J]. J Cereb Blood Flow Metab, 2012, 32(3): 403-412.
[5]Xu F, Ge Y, Lu H. Noninvasive quantification of whole-brain cerebral metabolic rate of oxygen(CMRO2) by MRI[J]. Magn Reson Med, 2009, 62(1): 141-148.
[6]von Gontard A. The impact of DSM-5 and guidelines for assessment and treatment of elimination disorders[J]. Eur Child Adol Psych, 2013, 22(Suppl 1): 61-67.
[7]Lu H, Xu F, Grgac K, et al. Calibration and validation of TRUST MRI for the estimation of cerebral blood oxygenation[J]. Magn Reson Med, 2012, 67(1): 42-49.
[8]Liu P, Dimitrov I, Andrews T, et al. Multisite evaluations of a T2-relaxation-under-spin-tagging(TRUST) MRI technique to measure brain oxygenation[J]. Magn Reson Med, 2016, 75(2): 680-687.
[9]Williams T, Tjian R. Characterization of a dimerization motifin AP-2 and its function in heterologous DNA-binding proteins[J]. Science, 1991, 251(4997): 1067-1071.
[10]Wang X, Zhong P, Gu Z, et al. Regulation of NMDA receptors by dopamine D4 signaling in prefrontal cortex[J]. J Neurosci, 2003, 23(30): 9852-9861.
[11]Gu Z, Yan Z. Bidirectional regulation of Ca2+ calmodulin-dependent protein kinase Ⅱ activity by dopamine D4 receptors in prefrontal cortex[J]. Mol Pharmacol, 2004, 66(4): 948-955.
[12]Esposito M, Gallai B, Parisi L, et al. Primary nocturnal enuresis as a risk factor for sleep disorders: an observational questionnaire-based multicenter study[J]. Neuropsychiatr Dis Treat, 2013, 9: 437-443.
