Lack of association of two lipoprotein lipase polymorphisms with Alzheimer's disease.
A recent genetic study demonstrated associations between an altered risk of Alzheimer's disease (AD) and two polymorphisms in the lipoprotein lipase (LPL) gene, Asn291Ser and Ser447Ter. LPL immunostains senile plaques, and is a ligand of the low-density lipoprotein receptor-related protein (LRP), a major apolipoprotein E (apoE) receptor. LPL increases the cellular uptake of apoE via LRP, and polymorphisms in LPL alter its ability to mediate apoE-LRP interactions, with potential implications for AD pathogenesis. Here, we tested the genetic association of LPL with AD in a case-control study. For the Asn291Ser polymorphism, we analyzed 277 individuals (141 AD, 136 control) and found no significant difference in allele frequencies between the AD and control groups. For the Ser447Ter polymorphism, we analyzed 187 individuals (108 AD, 79 control) and again found no significant difference in allele frequencies between the AD and control groups. Thus, our study does not support associations between AD and two common polymorphisms in LPL.
Martin-Rehrmann
Matthew D
MD
Alzheimer Research Unit, 114 16th Street, Massachusetts General Hospital, Charlestown, MA 02129, USA.
Cho
Hyun Soon
HS
Rebeck
G William
GW
D000544:Alzheimer Disease / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D000595:Amino Acid Sequence / Q000235:genetics; D001057:Apolipoproteins E / Q000235:genetics / Q000378:metabolism; D001216:Asparagine / Q000378:metabolism; D001921:Brain / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D001923:Brain Chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008071:Lipoprotein Lipase / Q000235:genetics* / Q000378:metabolism; D026503:Low Density Lipoprotein Receptor-Related Protein-1 / Q000235:genetics / Q000378:metabolism; D009474:Neurons / Q000201:enzymology* / Q000473:pathology; D058225:Plaque, Amyloid / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D012694:Serine / Q000378:metabolism
D001057:Apolipoproteins E; D026503:Low Density Lipoprotein Receptor-Related Protein-1; D012694:Serine; D001216:Asparagine; D008071:Lipoprotein Lipase