BACKGROUND/AIM: The aim of this study was to elucidate the relationship between Alzheimer's disease (AD) and the serotonin transporter gene (SLC6A4). METHODS: AD subjects (n = 43) and controls (n = 47) were recruited and evaluated. In leukocytes, we evaluated two polymorphisms in SLC6A4, the serotonin transporter length polymorphic region (5-HTT-LPR) and rs25531, as well as methylation rates of the SLC6A4 promoter region and the SLC6A4 mRNA expression level. We also performed a meta-analysis to examine the relationship between the frequency of the L allele and the risk of AD. RESULTS: The distributions of 5-HTT-LPR and rs25531 polymorphisms in AD subjects were not different from those of controls. Although the methylation rates in AD subjects were not significantly different from those of controls, the expression level in AD subjects was significantly higher than in controls. Additionally, the expression level in AD subjects was significantly correlated with apathy. Meta-analysis revealed that the L/L genotype significantly reduced the risk of AD, but only in the Caucasian population. CONCLUSION: Higher SLC6A4 mRNA expression in leukocytes in AD was associated with apathy regardless of SLC6A4 genotypes and methylation rates of the promoter region. The L/L genotype may reduce the risk of AD in the Caucasian population.
BACKGROUND/AIM: The aim of this study was to elucidate the relationship between Alzheimer's disease (AD) and the serotonin transporter gene (SLC6A4). METHODS:AD subjects (n = 43) and controls (n = 47) were recruited and evaluated. In leukocytes, we evaluated two polymorphisms in SLC6A4, the serotonin transporter length polymorphic region (5-HTT-LPR) and rs25531, as well as methylation rates of the SLC6A4 promoter region and the SLC6A4 mRNA expression level. We also performed a meta-analysis to examine the relationship between the frequency of the L allele and the risk of AD. RESULTS: The distributions of 5-HTT-LPR and rs25531 polymorphisms in AD subjects were not different from those of controls. Although the methylation rates in AD subjects were not significantly different from those of controls, the expression level in AD subjects was significantly higher than in controls. Additionally, the expression level in AD subjects was significantly correlated with apathy. Meta-analysis revealed that the L/L genotype significantly reduced the risk of AD, but only in the Caucasian population. CONCLUSION: Higher SLC6A4 mRNA expression in leukocytes in AD was associated with apathy regardless of SLC6A4 genotypes and methylation rates of the promoter region. The L/L genotype may reduce the risk of AD in the Caucasian population.
Authors: Peter D Fransquet; Paul Lacaze; Richard Saffery; John McNeil; Robyn Woods; Joanne Ryan Journal: Alzheimers Dement Date: 2017-11-08 Impact factor: 21.566
Authors: Marco Calabrò; Laura Mandelli; Concetta Crisafulli; Stefano Porcelli; Diego Albani; Antonis Politis; George N Papadimitriou; Marco Di Nicola; Luigi Janiri; Roberto Colombo; Giovanni Martinotti; Antonello Bellomo; Eduard Vieta; Stefano Bonassi; Alessandra Frustaci; Giuseppe Ducci; Stefano Landi; Stefania Boccia; Alessandro Serretti Journal: Mol Biol Rep Date: 2019-10-08 Impact factor: 2.316
Authors: Riley B Longtain; David P Graham; Mark J Harding; Richard De La Garza Ii; David A Nielsen Journal: Behav Brain Res Date: 2021-11-16 Impact factor: 3.332