Análisis genéticos de polimorfismos en los genes CYP46A1, OGG1, CYP17A1 y CYP1A1 en pacientes con deterioro cognitivo leve tipo amnésico (aDCL) y enfermedad de Alzheimer (EA) portadores del alelo APOE 4r
- Elcoroaristizabal Martín, Xabier
- Gamarra Fernández, D.
- Fernández Martínez, Manuel
- Gómez-Busto, Fernando
- Galdós Alcelay, L.
- Martínez de Pancorbo Gómez, Marian
ISSN: 1578-2603
Año de publicación: 2011
Volumen: 24
Páginas: 31-42
Tipo: Artículo
Otras publicaciones en: Antropo
Resumen
The aim of this study is to examine the influence of the functional polymorphisms allocated in 24S-hydroxylase (CYP46A1), 8-oxoguanine glycosilase 1 (OGG1), steroid 17-alpha-monooxygenase (CYP17A1) and the flavoprotein-linked monooxygenase (CYP1A1) genes as risk factors for amnestic mild cognitive impairment (aMCI)and Alzheimer disease (AD), and its effect in combination with the apolipoprotein E gene (APOE). Materials and methods. A total of 158 aMCI patients, 163 AD patients and 230 healthy controls were analyzed. Clinical criteria and neuropsychological test were used to establish diagnostic groups. rs1052133 SNPs (OGG1), rs743572 (CYP17A1) and rs4646903 (CYP1A1) and the SNP rs754203 (CYP46A1) and APOE genotypes were determined using rtPCR and RFPLs techniques, respectively. Multinomial logistic regression models were used to determine the risk of AD and aMCI. Results. None of least represented alleles in the control group, belonging to the studied SNPs, were determined as an independent risk factor for aMCI and AD, with the exception of allele APOEå4. In addition, stratification by APOEå4 allele did not change the lack of association observed. Conclusion. With the exception of APOEå4 allele, SNPs studied from candidate genes (rs754203 (CYP46A1), rs1052133 (OGG1), rs743572 (CYP17A1) and rs4646903 (CYP1A1)) are not independent risk factors for aMCI and AD.