Polymorphism in the peroxisome proliferator-activated receptor alpha gene influences the risk of Alzheimer's disease

S Brune, H Kolsch, U Ptok, M Majores, A Schulz, R Schloesser, ML Rao, W Maier, Reinhard Heun

    Research output: Contribution to journalArticle

    38 Citations (Scopus)

    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.
    Original languageEnglish
    Pages (from-to)1041-1050
    Number of pages10
    JournalJournal of Neural Transmission
    Volume110
    DOIs
    Publication statusPublished - 1 Sep 2003

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