1. Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: from risk factors to disease modulators
- Author
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Luigi Caimi, Nabil Maalikjy Akkawi, Alessandro Padovani, Chiara Agosti, Barbara Borroni, Carlo Caltagirone, Cristina Brambilla, Silvana Archetti, and Monica Di Luca
- Subjects
Male ,Apolipoprotein E ,Aging ,Pathology ,Time Factors ,Messenger ,Intronic CYP46 polymorphism ,ApoE genotype ,Alzheimer Disease ,chemistry.chemical_compound ,Gene Frequency ,Risk Factors ,Genotype ,80 and over ,Odds Ratio ,Cognitive decline ,Aged, 80 and over ,Reverse Transcriptase Polymerase Chain Reaction ,General Neuroscience ,Settore MED/26 - Neurologia ,Female ,lipids (amino acids, peptides, and proteins) ,Alzheimer's disease ,Psychology ,medicine.medical_specialty ,Apolipoproteins E ,Genetic ,Internal medicine ,Cholesterol 24-Hydroxylase ,medicine ,Humans ,Genetic Predisposition to Disease ,Analysis of Variance ,Chi-Square Distribution ,Aged ,Tyrosine ,Mental Status Schedule ,Polymorphism, Genetic ,RNA, Messenger ,Cysteine ,Case-Control Studies ,Introns ,Steroid Hydroxylases ,Follow-Up Studies ,Polymorphism ,Allele frequency ,Cholesterol ,Case-control study ,Odds ratio ,medicine.disease ,Endocrinology ,chemistry ,RNA ,Neurology (clinical) ,Geriatrics and Gerontology ,Developmental Biology - Abstract
Increasing biological and clinical findings argue for a link between brain cholesterol turnover and Alzheimer Disease (AD), high cerebral levels of the former increasing Abeta load. Cerebral cholesterol elimination involves two mechanisms dependent on Apolipoprotein E (ApoE) and cholesterol 24-hydroxylase (CYP46). The aim of this study was to evaluate an intronic variation in CYP46 (intron 2, T --> C ) along with ApoE genotype as risk factors for AD and to establish the correlation between CYP46/ApoE polymorphism and disease progression. One-hundred and fifty-seven AD patients, who had been followed periodically through 1-year follow-up after enrollment, and 134 age- and gender-matched controls entered the study. The distribution of CYP46 genotypes was significantly different in AD compared to controls (P
- Published
- 2004
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