title: Novel intronic polymorphisms in the presenilin-2 gene and a case-control association study of Alzheimer's disease.
abstract: Several alleles of introns or untranslated regions in the presenilin-1 (PS-1) and presenilin-2 (PS-2) genes have been reported to behave as risk factors for senile Alzheimer's disease (AD). On the other hand, mutations in the three presenile AD genes also have been identified in a small number of sporadic presenile AD and senile AD cases. The present study evaluated the genetic contributions of PS-2 exons and introns to 56 senile and 18 Japanese cases of presenile AD using polymerase chain reaction single-strand conformation polymorphism analysis. In the PS-2 gene, one exonic polymorphic site without amino acid substitution, 9 intronic polymorphic sites, and 2 intronic variant sites were detected. However, in all cases, amino acid substitutions in exons between 4 and 12 of the PS-2 gene were not observed. The risk factors of senile and presenile AD were evaluated using a population-based study of restriction cleavages between patients and controls in introns 3, 4, 10 and 11. Regarding PS-2, there was no association between AD and intronic polymorphisms.
authors.affiliation: Department of Developmental Genetics, Institute of Molecular Embryology and Genetics, Kumamoto University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Honda
authors.forename: T
authors.initials: T
authors.lastname: Kaname
authors.forename: R
authors.initials: R
authors.lastname: Igata-Yi
authors.forename: T
authors.initials: T
authors.lastname: Igata
authors.forename: Y
authors.initials: Y
authors.lastname: Hitoshi
authors.forename: K
authors.initials: K
authors.lastname: Ogomori
authors.forename: T
authors.initials: T
authors.lastname: Miyakawa
authors.forename: K I
authors.initials: KI
authors.lastname: Yamamura
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics*; D016022:Case-Control Studies; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D053766:Presenilin-2; D012307:Risk Factors
chemical_list: D008565:Membrane Proteins; C508861:PSEN2 protein, human; D053766:Presenilin-2