title: Possible association of missense mutation (Gly[-63]Glu) of the neurotrophin-3 gene with Alzheimer's disease in Japanese.
abstract: Several lines of evidence have suggested a possible involvement of neurotrophic factors in the pathogenesis of neurodegenerative disease. We examined whether a missense mutation (Gly[-63]Glu) of the neurotrophin-3 (NT-3) gene is associated with Alzheimer's disease (AD) in a Japanese sample of 123 patients and 215 controls. We found that homozygotes or heterozygotes for the mutated type (Glu[-63]) were significantly more common among the patients than the controls (P = 0.013, odds ratio 1.77, 95% CI 1.12-2.79). The mutated type was more frequent among the patients than the controls (P = 0.011, odds ratio 1.63, 95%CI 1.11-2.38). This association between NT-3 and AD was more prominent among those who did not carry the epsilon4 allele of the apolipoprotein E gene than those who carried the epsilon4 allele. Our results suggest that the Glu(-63) allele of the NT-3 gene by itself or another mutation nearby which would be in linkage disequilibrium to the mutation is a risk factor for AD.
authors.affiliation: Department of Psychiatry, Teikyo University School of Medicine, Tokyo, Japan. hkunugi@med.teikyo-u.ac.jp
authors.forename: H
authors.initials: H
authors.lastname: Kunugi
authors.forename: M
authors.initials: M
authors.lastname: Hattori
authors.forename: A
authors.initials: A
authors.lastname: Ueki
authors.forename: K
authors.initials: K
authors.lastname: Isse
authors.forename: H
authors.initials: H
authors.lastname: Hirasawa
authors.forename: S
authors.initials: S
authors.lastname: Nanko
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D018698:Glutamic Acid / Q000235:genetics; D005998:Glycine / Q000235:genetics; D006801:Humans; D007564:Japan; D008297:Male; D009414:Nerve Growth Factors / Q000235:genetics*; D020933:Neurotrophin 3; D017354:Point Mutation
chemical_list: D005819:Genetic Markers; D009414:Nerve Growth Factors; D020933:Neurotrophin 3; D018698:Glutamic Acid; D005998:Glycine