The dopamine transporter gene SLC6A3: multidisease risks.
The dopamine transporter gene SLC6A3: multidisease risks.
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DOI：
10.1038/s41380-021-01341-5
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发表时间：
2022-03
影响因子：
11
通讯作者：
Lin Z
中科院分区：
文献类型：
--
作者：
Reith MEA;Kortagere S;Wiers CE;Sun H;Kurian MA;Galli A;Volkow ND;Lin Z
人类多巴胺转运蛋白基因SLC6A3一直被认为与几种神经精神疾病有关，但其发病机制仍不清楚。在这一风险综合中，我们得出结论，SLC6A3代表着一种日益被认识的风险，越来越多的家族性突变与神经精神和神经疾病有关。至少有5个基因座与常见和严重的疾病有关，包括酒精使用障碍(高活性变量)、注意力缺陷/多动障碍(低活性变量)、自闭症(具有突变网络的家族蛋白)和运动障碍(调节变量和家族突变)。关联信号取决于所使用的遗传标记以及所检查的种族。强大的单倍型选择和全基因上位性支持对功能变异和表型关联的多标记评估。包括其启动子区域的功能标记物，如DNPi(Rs67175440)和5‘VNTR(Rs70957367)，可能有助于描述基于凝析油的风险作用，检验一个基因-多病病因学的位置-途径-表型假说。
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.
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影响因子：
3.3
作者：
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通讯作者：
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作者：
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