American Journal of Medical Genetics · 2000 · 33 citations · 12 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsAlzheimer DiseaseDementia GeneticsNeurodegenerative Disease GeneticsNeurodegenerative DiseasesNeurodegenerative DisordersReceptor PolymorphismsEarly Onset Alzheimer DiseaseLate Onset Alzheimer DiseaseNeurodegenerative GeneticsSerotonin Receptor PolymorphismsSerotonin Transporter Gene VariantsSerotonin Transporter PolymorphismTransporter Gene PolymorphismsTransporter Genetic Polymorphisms
Recently two independent research groups consistently reported a significant association between the serotonin transporter (5-HTT) gene and late-onset sporadic Alzheimer's disease (AD). They found that the "short" allele of the 5-HTT gene-linked polymorphic region (5-HTTLPR), which is associated with reduced transcriptional activity of the gene, increases the risk of developing late-onset AD. The present study tried to replicate this finding in a Japanese sample. We genotyped 41 patients with early-onset AD (<65 years), 82 with late-onset AD, and 336 controls. There was no significant difference in genotype or allele distribution between either patient group and controls in our sample, suggesting that the 5-HTTLPR does not play a major role in the pathogenesis of AD in Japanese.
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Clinical diagnosis of Alzheimer's disease
Guy M. McKhann, David A. Drachman, Marshall Folstein et al. · Neurology · 1984 · 28K citations · Full text