The short variant of the polymorphism within the promoter region of the serotonin transporter gene is a risk factor for late onset Alzheimer's disease

• Published in: Molecular psychiatry Vol. 3; no. 5; pp. 438 - 441
• Main Authors: OLIVEIRA, J. R. M, GALLINDO, R. M, MAIA, L. G. S, BRITO-MARQUES, P. R, OTTO, P. A, PASSOS-BUENOS, M. R, MORAIS, M. A, ZATZ, M
• Format: Journal Article
• Language: English
• Published: Basingstoke Nature Publishing Group 01-09-1998
• Subjects: Adult; Age; Age of Onset; Aged; Alleles; Alzheimer Disease - epidemiology; Alzheimer Disease - genetics; Alzheimer's disease; Biological and medical sciences; Carrier Proteins - genetics; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Gene deletion; Gene Frequency; Gene polymorphism; Genetic Variation; Genotype; Humans; Insertion; Medical sciences; Membrane Glycoproteins - genetics; Membrane Transport Proteins; Middle Aged; Nerve Tissue Proteins - genetics; Neurodegenerative diseases; Neurology; Polymorphism; Polymorphism, Genetic; Promoter Regions, Genetic; Reference Values; Risk Factors; Serotonin; Serotonin Plasma Membrane Transport Proteins; Serotonin transporter; Statistical analysis; Human; Nervous system diseases; Late; Genetic variability; Serotonin; Alzheimer disease; Pathogenesis; Biological transport; Genetic determinism; Cerebral disorder; Age of onset; Gene; Central nervous system disease; Risk factor; Genetics; Degenerative disease; Elderly; Polymorphism
• ISSN: 1359-4184; 1476-5578
• DOI: 10.1038/sj.mp.4000417

We analyzed a deletion/insertion polymorphism within the promoter region of the serotonin transporter gene (5-HTTPLR) in 81 patients with late onset Alzheimer's (AD) disease (mean age 70.02 +/- 8.13 years). Control groups included 81 normal subjects with comparable age (mean age 75.6 +/- 10.2) and 82 younger normal subjects (mean age 37.4 +/- 9.1). Statistical analysis showed a significant difference in the genotype and gene frequencies between the AD group and normal controls (chi 2 = 9.021; 2 d.f. and chi 2 = 5.59, 1 d.f., respectively, P < 0.05) due to the higher frequency of the L allele and the lower frequency of the s allele in controls than among AD patients. However, no differences were found in the genotype frequencies in older as compared to younger normal control groups (chi 2 = 0.337, 2 d.f. and P > 0.05). The present study confirms, in a different population, that the short variant of the 5-HTTPLR polymorphism may be a risk factor for late onset AD.