Premium
[P102]: The functional role of the PPP2R2B gene, CAG repeat polymorphism and its implication in the genetic susceptibility to Taiwanese Alzheimer's disease
Author(s) -
Lin C.H.,
Hou Y.T.,
Chen C.M.,
Hsu W.C.,
Fung H.C.,
LeeChen G.J.
Publication year - 2006
Publication title -
international journal of developmental neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.761
H-Index - 88
eISSN - 1873-474X
pISSN - 0736-5748
DOI - 10.1016/j.ijdevneu.2006.09.164
Subject(s) - genetics , disease , biology , gene , polymorphism (computer science) , genotype , medicine , pathology
factors may play roles in the development of AD and/or VaD. In this study, odd ratios (ORs) and 95% confidence intervals (CIs) for apolipoprotein E (APOE), angiotensin-converting enzyme (ACE) and kallikrein (KLK1) polymorphisms were computed to test their association with the disease by a case–control study and a promoter functional assay. The analysis of genotype or allele frequency distribution of KLK1 −130 GN showed no statistically significant difference between cases and controls. The overall APOE genotype distribution was significantly different between the AD cases and controls (p < 0.0001), with significantly more 3 4 (35.8% versus 16.8%, p = 0.0010) and 4 4 (8.6% versus 0.0%, p = 0.0002) genotypes among AD cases and the association of the 4 allele with AD was evident (p < 0.0001; OR: 3.73; 95% CI: 2.38–5.98). The above difference was not observed between the VaD cases and controls. The risk of AD was also significant for people with ACE DD genotype, D allele or T–D haplotype [OR (95% CI) = 4.29 (1.96–10.23), 1.90 (1.35–2.70) or 2.91 (1.71–5.10), respectively]. The above association between ACE-VaD was also strong (p = 0.0012, 0.0050, 0.0007, respectively). Reporter constructs containing the −240 A or T allele displayed similar transcriptional activity in both HEK-293 and IMR-32 cells. Thus, another putative pathogenic marker that is linked with the Alu D allele might affect the risk of AD and VaD in Taiwan.