title: The LDLR locus in Alzheimer's disease: a family-based study and meta-analysis of case-control data.
abstract: Genetic linkage studies suggest the presence of an Alzheimer's disease (AD) risk gene on chromosome 19, acting independently of apolipoprotein E (apoE), a known AD risk factor on 19q13. The low density lipoprotein receptor (LDLR) is an interesting candidate because it maps within the linked interval, and is intimately involved in cholesterol homeostasis and the function of apoE. We tested three previously reported single nucleotide polymorphisms (SNPs) within LDLR in a large sample of discordant sibships from multiplex AD families, and failed to find evidence for genetic association with disease risk. In addition, we performed meta-analyses for SNP rs5925 on published data from five independent case control samples, but did not detect any significant summary odds ratios. Based on our data, it seems unlikely that these genetic variants in LDLR make a significant contribution to AD risk in the general population.
authors.affiliation: Genetics and Aging Research Unit, MassGeneral Institute for Neurodegenerative Diseases, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA 02129, USA. bertram@helix.mgh.harvard.edu
authors.forename: Lars
authors.initials: L
authors.lastname: Bertram
authors.forename: Monica
authors.initials: M
authors.lastname: Hsiao
authors.forename: Matthew B
authors.initials: MB
authors.lastname: McQueen
authors.forename: Michele
authors.initials: M
authors.lastname: Parkinson
authors.forename: Kristina
authors.initials: K
authors.lastname: Mullin
authors.forename: Deborah
authors.initials: D
authors.lastname: Blacker
authors.forename: Rudolph E
authors.initials: RE
authors.lastname: Tanzi
mesh_terms: D000368:Aged; D000544:Alzheimer Disease / Q000453:epidemiology* / Q000235:genetics*; D016022:Case-Control Studies; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D008077:Lipoproteins, LDL / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D040641:Quantitative Trait Loci / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors
chemical_list: D008077:Lipoproteins, LDL