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Journal article
The dopamine transporter gene SLC6A3: multidisease risks
Molecular psychiatry, v 27(2), pp 1031-1046
Feb 2022
PMID: 34650206
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
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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Details
- Title
- The dopamine transporter gene SLC6A3: multidisease risks
- Creators
- Maarten E A Reith - Department of Psychiatry, New York University School of Medicine, New York City, NY 10016, USA.Sandhya Kortagere - Drexel UniversityCorinde E Wiers - University of PennsylvaniaHui Sun - National Institute on Alcohol Abuse and AlcoholismManju A Kurian - Great Ormond Street HospitalAurelio Galli - University of Alabama at BirminghamNora D Volkow - National Institute on Alcohol Abuse and AlcoholismZhicheng Lin - McLean Hospital
- Publication Details
- Molecular psychiatry, v 27(2), pp 1031-1046
- Publisher
- Springer Nature
- Grant note
- DA035263 / U.S. Department of Health & Human Services | NIH | National Institute on Drug Abuse (NIDA) R01 DA021409 / NIDA NIH HHS R21 AA026663 / NIAAA NIH HHS Y1AA-3009 / U.S. Department of Health & Human Services | NIH | National Institute on Alcohol Abuse and Alcoholism (NIAAA) DA019676 / U.S. Department of Health & Human Services | NIH | National Institute on Drug Abuse (NIDA) DA031573 / U.S. Department of Health & Human Services | NIH | National Institute on Drug Abuse (NIDA) R01 DA035263 / NIDA NIH HHS AA026663 / U.S. Department of Health & Human Services | NIH | National Institute on Alcohol Abuse and Alcoholism (NIAAA) DA021409 / U.S. Department of Health & Human Services | NIH | National Institute on Drug Abuse (NIDA)
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Microbiology and Immunology
- Web of Science ID
- WOS:000707296400004
- Scopus ID
- 2-s2.0-85117214326
- Other Identifier
- 991019167797004721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Biochemistry & Molecular Biology
- Neurosciences
- Psychiatry