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Association of CYP46 intron 2 polymorphism in Finnish Alzheimer’s disease samples and a global scale summary

¹ Department of Neuroscience and Neurology, Univeristy Hospital and Brain Research Unit, Clinical Research Centre/Mediteknia, University of Kuopio, Kuopio, Finland
² Department of Clinical Pathology and Forensic Medicine, University of Kuopio, Kuopio, Finland
³ Department of Neuroscience and Neurology, University Hospital and Brain Research Unit, Clinical Research Centre/Mediteknia, University of Kuopio, Kuopio, Finland
⁴ Statistical and Mathematical Services, Information Technology Centre, University of Kuopio, Kuopio, Finland
⁵ Department of Neuroscience and Neurology, University Hospital and Brain Research Unit, Clinical Research Centre/Mediteknia, University of Kuopio, Kuopio, Finland

Correspondence to:
Correspondence to:
S Helisalmi
Department of Neuroscience and Neurology, University Hospital and University of Kuopio, Kuopio, Finland;seppo.helisalmi@uku.fi

Keywords: Alzheimer’s disease; apolipoprotein E; association study; CYP46; meta-analysis

The first 150 words of the full text of this article appear below.

Cholesterol 24S-hydroxylase (CYP46; Gene ID: 10858) in chromosome 14q32.1 plays a key role in the hydroxylation of brain cholesterol to 24-hydroxycholesterol.¹ This primary cholesterol elimination product can be transported through the blood-brain barrier. 24S-hydroxycholesterol is in in vitro conditions neurotoxic and may contribute to neurodegeneration.²

The gene for apolipoprotein E (APOE), a major cholesterol-transporting plasma protein, is expressed as three different polymorphic allelic forms (APOE 2, 3, and 4) of which APOE 4 is associated with an increased risk of Alzheimer’s disease (AD). A small amount of cholesterol exits via an APOE mediated pathway through the cerebrospinal fluid.¹ Because depletion of brain cholesterol levels reduces the generation of ß amyloid protein in the brain and cholesterol lowering drugs may reduce the risk of dementia,¹ we tested the hypothesis that the previously examined single nucleotide polymorphism dbSNP:754203 in the CYP46 gene³ with or without the APOE 4 allele was associated with . . . [Full text of this article]