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The dopamine transporter gene SLC6A3: multidisease risks
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 assoc...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9008071/ https://www.ncbi.nlm.nih.gov/pubmed/34650206 http://dx.doi.org/10.1038/s41380-021-01341-5 |
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author | Reith, Maarten E. A. Kortagere, Sandhya Wiers, Corinde E. Sun, Hui Kurian, Manju A. Galli, Aurelio Volkow, Nora D. Lin, Zhicheng |
author_facet | Reith, Maarten E. A. Kortagere, Sandhya Wiers, Corinde E. Sun, Hui Kurian, Manju A. Galli, Aurelio Volkow, Nora D. Lin, Zhicheng |
author_sort | Reith, Maarten E. A. |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9008071 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-90080712022-05-01 The dopamine transporter gene SLC6A3: multidisease risks Reith, Maarten E. A. Kortagere, Sandhya Wiers, Corinde E. Sun, Hui Kurian, Manju A. Galli, Aurelio Volkow, Nora D. Lin, Zhicheng Mol Psychiatry Article 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. Nature Publishing Group UK 2021-10-14 2022 /pmc/articles/PMC9008071/ /pubmed/34650206 http://dx.doi.org/10.1038/s41380-021-01341-5 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Article Reith, Maarten E. A. Kortagere, Sandhya Wiers, Corinde E. Sun, Hui Kurian, Manju A. Galli, Aurelio Volkow, Nora D. Lin, Zhicheng The dopamine transporter gene SLC6A3: multidisease risks |
title | The dopamine transporter gene SLC6A3: multidisease risks |
title_full | The dopamine transporter gene SLC6A3: multidisease risks |
title_fullStr | The dopamine transporter gene SLC6A3: multidisease risks |
title_full_unstemmed | The dopamine transporter gene SLC6A3: multidisease risks |
title_short | The dopamine transporter gene SLC6A3: multidisease risks |
title_sort | dopamine transporter gene slc6a3: multidisease risks |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9008071/ https://www.ncbi.nlm.nih.gov/pubmed/34650206 http://dx.doi.org/10.1038/s41380-021-01341-5 |
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