title: Low-density lipoprotein receptor-related protein 8 (apolipoprotein E receptor 2) gene polymorphisms in Alzheimer's disease.
abstract: Apolipoprotein E (ApoE) isoforms affect the risk of developing Alzheimer's disease (AD). ApoE-associated risk may be related to its binding to and clearance by cell surface receptors, such as the members of the low-density lipoprotein (LDL) receptor family. Previous studies had shown association of LDL receptor-related protein (LRP) and AD, therefore we speculated that another member of this LDL receptor family, LRP8 (also called apolipoprotein E receptor 2 or ApoER2), which is predominantly expressed in brain, might be associated with Alzheimer's disease. To explore this hypothesis, we screened exons 2-19 of the LRP8 gene in a total of 204 AD and 184 elderly control subjects for polymorphisms using the conformation-sensitive gel electrophoresis method. Our results revealed four sequence alterations: two predicted to result in amino acid changes (E46D and R952Q), one in an intron (IVS9 + 7G > A), and one synonymous polymorphism (2622T > C). The latter was found in four AD patients (2.0%) and 11 controls (6.0%), a significant difference (P = 0.042). Further study is needed to confirm this possible association of LRP8 with AD.
authors.affiliation: Department of Anatomical and Cellular Pathology, Faculty of Medicine, The Chinese University of Hong Kong, Shatin, Hong Kong, China.
authors.forename: Suk Ling
authors.initials: SL
authors.lastname: Ma
authors.forename: Ho Keung
authors.initials: HK
authors.lastname: Ng
authors.forename: Larry
authors.initials: L
authors.lastname: Baum
authors.forename: Jesse Chung Sean
authors.initials: JC
authors.lastname: Pang
authors.forename: Helen Fung Kum
authors.initials: HF
authors.lastname: Chiu
authors.forename: Jean
authors.initials: J
authors.lastname: Woo
authors.forename: Nelson Leung Sang
authors.initials: NL
authors.lastname: Tang
authors.forename: Linda Chiu Wa
authors.initials: LC
authors.lastname: Lam
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000235:genetics*; D017931:DNA Primers; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007438:Introns / Q000235:genetics; D026502:LDL-Receptor Related Proteins; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic / Q000235:genetics*; D018110:Receptors, Lipoprotein / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D026502:LDL-Receptor Related Proteins; D018110:Receptors, Lipoprotein; C098773:low density lipoprotein receptor-related protein 8