目的：应用T2弛豫自旋标记（TRUST）技术，探讨多巴胺D4受体基因（DRD4）616位点（rs747302）单核苷酸多态性（Single nucleotide polymorphism，SNP）对原发性夜间遗尿症（Primary nocturnal enuresis，PNE）患儿脑氧代谢的影响。方法：本研究为前瞻性研究，通过DRD4-616位点基因型检测及TRUST扫描，获取2016年2月—2017年12月56例PNE患儿及58例正常对照组儿童的脑氧代谢数据及基因型数据。以年龄、性别作为协变量， 以分组（PNE/对照）及基因型（C/G）作为可能的影响因素，针对脑氧摄取率（Oxygen extraction fraction，OEF）以及脑氧代谢率（Cerebral metabolic rate of oxygen，CMRO2）进行析因设计的协方差分析。结果：OEF以及CMRO2分组×基因型交互效应显著（F1，110=6.513，P=0.012 1；F1，110=6.888，P<0.001；F1，110=13.01，P<0.001），Post-Hoc检验发现结果携带C等位基因的PNE患儿OEF以及CMRO2值显著低于G纯合子PNE患儿（t=-5.976, Padjusted<0.001；t=-5.594，Padjusted<0.001）；Yν显著高于G纯合子PNE患儿（t=5.863，Padjusted<0.001）。结论：DRD4-616 SNP对于PNE患儿OEF及CMRO2造成了影响，这可能与PNE的发病有关。
Abstract
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.
关键词
遗尿 /
受体 /
多巴胺 /
儿童 /
磁共振成像
Key words
Enuresis /
Receptors, dopamine /
Child /
Magnetic resonance imaging
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基金
国家重点研发计划（项目基金号2016YFC0107100；2016YFC0106804）；
国家自然科学基金资助项目（项目基金号81541058；81301204）。
