The human dopamine transporter gene SLC6A3 has been consistently implicated in several neuropsychiatric diseases but the disease mechanism remains elusive. In this risk synthesis, we have concluded that SLC6A3 represents an increasingly recognized risk with a growing number of familial mutants associated with neuropsychiatric and neurological disorders. At least five loci were related to common and severe diseases including alcohol use disorder (high activity variant), attention-deficit/hyperactivity disorder (low activity variant), autism (familial proteins with mutated networking) and movement disorders (both regulatory variants and familial mutations). Association signals depended on genetic markers used as well as ethnicity examined. Strong haplotype selection and gene-wide epistases support multimarker assessment of functional variations and phenotype associations. Inclusion of its promoter region’s functional markers such as DNPi (rs67175440) and 5’VNTR (rs70957367) may help delineate condensate-based risk action, testing a locus-pathway-phenotype hypothesis for one gene-multidisease etiology.

人类多巴胺转运蛋白基因SLC6A3一直与几种神经精神疾病有关，但疾病机制仍然难以捉摸。在此风险综合中，我们得出结论，SLC6A3随着越来越多的与神经精神和神经系统疾病相关的家族突变体的增加，代表了越来越多的风险。至少有五个位点与常见和严重疾病相关，包括酒精使用障碍（高活动变异）、注意力缺陷/多动障碍（低活动变异）、自闭症（具有突变网络的家族性蛋白质）和运动障碍（调节变异和家族性变异）突变）。关联信号取决于使用的遗传标记以及检查的种族。强大的单倍型选择和全基因上位支持功能变异和表型关联的多标记评估。包含其启动子区域的功能标记，如 DNPi (rs67175440) 和 5'VNTR (rs70957367) 可能有助于描述基于冷凝物的风险行动，