Abstract
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.
Highlights
Eating disorders (EDs) are psychiatric disorders that include abnormal eating behaviors, such as refusing to eat and overeating or excretory behaviors to prevent weight gain by vomiting food or using laxatives and diuretics, which often develop among young women who are between the stages of late puberty and early adulthood [1] [2]
We have previously reported an association between 3'-untranslated region (3'-UTR) variable number of tandem repeats (VNTRs) of the Dopamine Transporter 1 (DAT1) gene and eating disorders (EDs) with binge eating behavior (EDBEB)
Exons 2-14 of the DAT1 gene were amplified by polymerase chain reaction (PCR) using genomic DNA from each test sample as the template and using primers designed such that each primer was homologous to the upstream and downstream intron sequences that bordered each exon
Summary
Eating disorders (EDs) are psychiatric disorders that include abnormal eating behaviors, such as refusing to eat (restrictive eating) and overeating (binge eating) or excretory behaviors to prevent weight gain by vomiting food or using laxatives and diuretics, which often develop among young women who are between the stages of late puberty and early adulthood [1] [2]. The development of ED and its disease state is currently considered to be associated with psychosocial factors that are closely related to genetic factors [8], which is similar to mental disorders such as bipolar disorder and schizophrenia. To elucidate the development of ED and its disease state, clinical genetic studies such as twin studies [9], family studies [10], and various genome-wide association studies (GWASs) are being conducted; no consensus on the results regarding candidate genes for ED has been reached [7] [11] [12]. Besides ED [17], the associations of polymorphisms with attention-deficient/hyperactivity disorder [18], alcohol [19], smoking [20], and cocaine dependence [21], and schizophrenia [22] are known
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