Promoter polymorphism of the 5-HT transporter and Alzheimer's disease

Hu, M., Retz, W., Baader, M., Pesold, B., Adler, G., Henn, F. A., Rosler, M., Thome, J. (November 2000) Promoter polymorphism of the 5-HT transporter and Alzheimer's disease. Neuroscience Letters, 294 (1). pp. 63-5. ISSN 03043940 (ISSN)

DOI: 10.1016/S0304-3940(00)01544-5


The role of the deletion/insertion polymorphism within the promoter region of the serotonin transporter gene (5-HTT) is under discussion as a potential genetic risk factor for Alzheimers's disease (AD). Here we report significant differences in the allelic distribution of this polymorphism with a higher frequency of the short variant allele in AD patients when compared to controls. This difference was independent of the apolipoproteinE genotype. Thus, our study supports the notion that genetic alterations in the serontonergic neurotransmitter system may be involved in the etiopathogenesis of AD. However, given the reported negative findings, we are presently trying to identify diagnostic subgroups for which the 5-HTT promoter polymorphism represents a susceptibility locus.

Item Type: Paper
Uncontrolled Keywords: Alleles Alzheimer Disease/epidemiology/ genetics Apolipoprotein E4 Apolipoproteins E/genetics Carrier Proteins/ genetics European Continental Ancestry Group/genetics Female Gene Frequency Genetic Predisposition to Disease Genetic Testing Heterozygote Detection Humans Male Membrane Glycoproteins/ genetics Membrane Transport Proteins Nerve Tissue Proteins Polymorphism, Genetic Prevalence Promoter Regions, Genetic/ genetics Risk Factors Serotonin Plasma Membrane Transport Proteins
Subjects: diseases & disorders > mental disorders > delirium dementia cognitive disorders > Alzheimer's disease
bioinformatics > genomics and proteomics > genetics & nucleic acid processing
bioinformatics > genomics and proteomics
CSHL Authors:
Communities: CSHL labs > Henn lab
Depositing User: Matt Covey
Date: 10 November 2000
Date Deposited: 30 Jan 2014 15:50
Last Modified: 30 Jan 2014 15:50
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