Carriers of a common variant in the dopamine transporter gene have greater dementia risk, cognitive decline, and faster ventricular expansion
Year: 2014
Type: article
Abstract: INTRODUCTION: Genetic variants in DAT1, the gene encoding the dopamine transporter (DAT) protein, have been implicated in many brain disorders. In a recent case-control study of Alzheimer's disease (AD), a regulatory polymorphism in DAT1 showed a significant association with the clinical stages of dementia. METHODS: We tested whether this variant was associated with increased AD risk, and with measures of cognitive decline and longitudinal ventricular expansion, in a large sample of elderly participants with genetic, neurocognitive, and neuroimaging data from the Alzheimer's Disease Neuroimaging Initiative. RESULTS: The minor allele-previously linked with increased DAT expression in vitro-was more common in AD patients than in both individuals with mild cognitive impairment and healthy elderly controls. The same allele was also associated with poorer cognitive performance and faster ventricular expansion, independently of diagnosis. DISCUSSION: These results may be due to reduced dopaminergic transmission in carriers of the DAT1 mutation.
Source: Alzheimer s & Dementia
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: green
Awards: G104586243, UC Davis Alzheimer's Disease Core Center, "MR Morphometrics and Cognitive Decline Rate in Large-Scale Aging Studies", Alzheimer's disease risk analyzed using population imaging genomics, Empowering Personalized Medicine: Integrating Imaging, Genetics, and Biomarkers, Alzheimer's Disease Neuroimaging Initiative, ENIGMA Center for Worldwide Medicine, Imaging & Genomics, Biomarkers of fast acting therapies in major depression, Growth factors, neuroinflammation, exercise, and brain integrity, G9000039018
OpenAlex ID: W2033188976