Association between Dopamine Transporter Gene (<i>DAT1</i>) Polymorphisms and Eating Disorders with Binge Eating Behavior

作     者：Takashi Hirata Takuji Uemura Manabu Shinohara Masami Hirano 

作者机构：Department of Neuropsychiatry and Clinical Ethics Interdisciplinary Graduate School of Medicine University of Yamanashi Yamanashi Japan Health Care Center University of Yamanashi Yamanashi Japan Kyosai Hospital Yamanashi Japan 

出 版 物：《Open Journal of Psychiatry》 (精神病学期刊（英文）)

年 卷 期：2017年第7卷第4期

页      面：329-343页

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

主　　题：Eating Disorder Binge Eating Behavior DAT1 Association Study Polymorphism 

摘      要：Objectives: Dyshomeostasis of the dopaminergic system is implicated in the pathophysiology of eating disorders (EDs). We have previously reported an association between 3 -UTR VNTR (three prime untranslated region variable number of tandem repeat) of the Dopamine Transporter 1 (DAT1) gene and ED with binge eating behavior (EDBEB). Here we investigated whether variants in the coding region of the DAT1 gene also associate with EDBEB. Methods: The coding region and exon-intron junctions of the DAT1 gene were screened by direct sequencing using genomic DNA from EDBEB patients (n = 90) and healthy subjects (n = 114) on whom 3 -UTR VNTR variants had been previously determined. Results: rs2270912 and rs28363130, two of five known polymorphisms found by this screen, were significantly associated with EDBEB patients by genotype (p = 0.003, p = 0.011, respectively) and allele (p = 0.003, p = 0.012, respectively) frequency compared with healthy subjects. Interestingly, these polymorphisms associate with the risk 3 -UTR VNTR variant of EDBEB. Conclusion: Although our sample size was small, we show here that rs2270912 and rs28363130 associates with EDBEB and might act with 3 -UTR VNTR as a haplotype. These findings support the notion that the DAT1 gene plays a key role in the dopaminergic system of EDBEB.