title: Polymorphism in the peroxisome proliferator-activated receptor alpha gene influences the risk for Alzheimer's disease.
abstract: 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.
authors.affiliation: Department of Psychiatry, University of Bonn, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Brune
authors.forename: H
authors.initials: H
authors.lastname: Kölsch
authors.forename: U
authors.initials: U
authors.lastname: Ptok
authors.forename: M
authors.initials: M
authors.lastname: Majores
authors.forename: A
authors.initials: A
authors.lastname: Schulz
authors.forename: R
authors.initials: R
authors.lastname: Schlosser
authors.forename: M L
authors.initials: ML
authors.lastname: Rao
authors.forename: W
authors.initials: W
authors.lastname: Maier
authors.forename: R
authors.initials: R
authors.lastname: Heun
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics* / Q000378:metabolism*; D019943:Amino Acid Substitution; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007328:Insulin / Q000235:genetics / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D018160:Receptors, Cytoplasmic and Nuclear / Q000172:deficiency* / Q000235:genetics; D014157:Transcription Factors / Q000172:deficiency* / Q000235:genetics
chemical_list: D016229:Amyloid beta-Peptides; D007328:Insulin; D018160:Receptors, Cytoplasmic and Nuclear; D014157:Transcription Factors