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: M Honda, T Kaname, R Igata-Yi, T Igata, Y Hitoshi, K Ogomori, T Miyakawa, K I Yamamura
• Journal: Psychiatry and clinical neurosciences (Psychiatry Clin Neurosci) Vol. 53 Issue 5 Pg. 579-85 (Oct 1999) ISSN: 1323-1316 [Print] Australia
• PMID: 10595683 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Membrane Proteins
• PSEN2 protein, human
• Presenilin-2

Topics

• Alzheimer Disease (genetics)
• Case-Control Studies
• Exons (genetics)
• Female
• Humans
• Introns (genetics)
• Male
• Membrane Proteins (genetics)
• Middle Aged
• Polymerase Chain Reaction
• Polymorphism, Genetic
• Polymorphism, Single-Stranded Conformational
• Presenilin-2
• Risk Factors