6533b852fe1ef96bd12aa4bd

RESEARCH PRODUCT

Polymorphism in the peroxisome proliferator-activated receptor ? gene influences the risk for Alzheimer?s disease

Wolfgang MaierReinhard HeunUrsula PtokRalf G.m. SchlösserMarie Luise RaoHeike KölschS. BruneA. SchulzMichael Majores

subject

Malemedicine.medical_specialtyGenotypemedicine.medical_treatmentDNA Mutational AnalysisReceptors Cytoplasmic and NuclearBiologyExonGene FrequencyAlzheimer DiseaseInternal medicineGenotypemedicineHumansInsulinGenetic Predisposition to DiseaseGenetic TestingAlleleReceptorAllele frequencyBiological PsychiatryAgedAged 80 and overAmyloid beta-PeptidesPolymorphism GeneticExonsMiddle Agedmedicine.diseasePsychiatry and Mental healthSteroid hormoneEndocrinologyAmino Acid SubstitutionNeurologyFemaleNeurology (clinical)Peroxisome proliferator-activated receptor alphaAlzheimer's diseaseTranscription Factors

description

The peroxisome proliferator-activated receptor alpha (PPAR-alpha) is a member of the steroid hormone super family of ligand-inducible transcription factors, involved in glucose and lipid metabolism. We screened for polymorphisms in the PPAR-alpha gene and detected two known polymorphisms located in exon 5 and intron 7. These polymorphisms were investigated for their possible association with Alzheimer's disease (AD) and for their effect in carriers of an insulin gene (INS) polymorphism. The PPAR-alpha C --G polymorphism in exon 5 (L162V) was associated with AD, in that the V-allele was more frequent in AD patients than in healthy subjects. Further data analysis revealed that carriers of an PPAR-alpha L162V V-allele and an INS-1 allele presented with an increased risk for AD. Cerebrospinal fluid amyloid-beta levels were influenced by PPAR-alpha L162V genotype. These results suggest, that PPAR-alpha polymorphism may be a risk factor for AD.

yearjournalcountryeditionlanguage
2003-09-01Journal of Neural Transmission
https://doi.org/10.1007/s00702-003-0018-6