Association study of two steroid biosynthesis genes (COMT and CYP17) with Alzheimer's disease in the Italian population
| Autor: | Rosa Maria Corbo, Daniela Scarabino, Renato Scacchi, Giuseppe Gambina, Elisabetta Broggio |
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| Rok vydání: | 2014 |
| Předmět: |
Male
medicine.medical_specialty Genotype genetic association medicine.drug_class Single-nucleotide polymorphism Disease Steroid biosynthesis Biology Catechol O-Methyltransferase Polymorphism Single Nucleotide Apolipoproteins E Gene Frequency Alzheimer Disease Internal medicine estrogen medicine Humans Genetic Predisposition to Disease Age of Onset Allele comt Genetic Association Studies Aged Genetic association Aged 80 and over Analysis of Variance Steroid 17-alpha-Hydroxylase alzheimer's disease cyp17 Endocrinology Italy Neurology Estrogen Female Neurology (clinical) Cognition Disorders Mental Status Schedule rs4680 |
| Zdroj: | Journal of the Neurological Sciences. 344:149-153 |
| ISSN: | 0022-510X |
| DOI: | 10.1016/j.jns.2014.06.045 |
| Popis: | The greater predisposition of women to Alzheimer's disease (AD), owing to the decrease in postmenopausal estrogen, may be influenced by polymorphic variation in genes regulating estrogen metabolism (e.g., COMT) and estrogen biosynthesis (e.g., CYP17). In order to better understand how the estrogen pathway genetic variation might affect AD onset, we conducted a case–control study of two single nucleotide polymorphisms (SNPs) of these two genes (COMT rs4680 and CYP17 rs743572) in a sample of AD patients of Italian origin. The COMT allele and genotype were found associated neither with AD onset nor with parameters of AD severity, such as cognitive impairment, age at onset, or disease duration. In contrast, CYP17 was found to affect the age at disease onset mainly in males and, as compared with noncarriers, people carrying the A2 (C) allele had a 2.2-fold increased risk for AD. These findings suggest that the CYP17 A2 allele influences AD susceptibility in a sex-specific way by acting not only on AD risk but also on the age at disease onset, an important parameter of AD severity. |
| Databáze: | OpenAIRE |
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