Alzheimer's disease and 5-HTTLPR polymorphism of the serotonin transporter gene: No evidence for an association

• Published in: American journal of medical genetics Vol. 96; no. 3; pp. 307 - 309
• Main Authors: Kunugi, Hiroshi, Ueki, Akira, Otsuka, Mieko, Isse, Kunihiro, Hirasawa, Hideto, Kato, Norihiro, Nabika, Toru, Kobayashi, Shotai, Nanko, Shinichiro
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 12-06-2000
• Subjects: Age of Onset; Aged; Alleles; Alzheimer Disease - enzymology; Alzheimer Disease - genetics; Alzheimer's disease; association study; Carrier Proteins - genetics; Female; Genetic Predisposition to Disease; Humans; Japan; late onset; Male; Membrane Glycoproteins - genetics; Membrane Transport Proteins; Middle Aged; Nerve Tissue Proteins; polymorphism; Polymorphism, Genetic; Serotonin - genetics; Serotonin - metabolism; Serotonin Plasma Membrane Transport Proteins; serotonin transporter; Japan
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/1096-8628(20000612)96:3<307::AID-AJMG14>3.0.CO;2-0

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. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:307–309, 2000. © 2000 Wiley‐Liss, Inc.