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The dopamine transporter gene SLC6A3: multidisease risks

MEA. Reith, S. Kortagere, CE. Wiers, H. Sun, MA. Kurian, A. Galli, ND. Volkow, Z. Lin

. 2022 ; 27 (2) : 1031-1046. [pub] 20211014

Jazyk angličtina Země Velká Británie

Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural

Perzistentní odkaz   https://www.medvik.cz/link/bmc22019445

Grantová podpora
R01 DA035263 NIDA NIH HHS - United States
R01 DA021409 NIDA NIH HHS - United States
R21 AA026663 NIAAA NIH HHS - United States

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.

Citace poskytuje Crossref.org

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