Summary.
The peroxisome proliferator-activated receptor α (PPAR-α) 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-α 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-α 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-α L162V V-allele and an INS-1 allele presented with an increased risk for AD. Cerebrospinal fluid amyloid-β levels were influenced by PPAR-α L162V genotype. These results suggest, that PPAR-α polymorphism may be a risk factor for AD.
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Received December 30, 2002; accepted April 28, 2003 Published online June 30, 2003
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Brune, S., Kölsch, H., Ptok, U. et al. Polymorphism in the peroxisome proliferator-activated receptor α gene influences the risk for Alzheimer’s disease. J Neural Transm 110, 1041–1050 (2003). https://doi.org/10.1007/s00702-003-0018-6
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DOI: https://doi.org/10.1007/s00702-003-0018-6