Evaluation of DNA polymorphisms in candidate genes of mild cognitive impairment and Alzheimers disease Patients / Avaliação de polimorfismos de DNA em genes candidatos de pacientes com comprometimento cognitivo leve e doença de Alzheimer

AUTOR(ES)
DATA DE PUBLICAÇÃO

2010

RESUMO

Alzheimers disease (AD) is complex, and its ethiology is not completely understood yet. It is likely that multifactorial components do account for this pathology development, being the allelic variant APOE*E4 is the only well-established genetic risk factor so far. Recently, a series of polymorphisms located at different genes were related to AD, suggesting that those variations might have a modest participation in this pathology. The present study evaluated twenty-one polymorphisms distributed in thirteen genes, being them APOE, ACE, APP, BDNF, CALHM1, CST3, GAB2, GAPDH, GSK3B, GSTP1, IL1A, IL1B and SORL1, in elderly controls, AD and mild cognitive impairment patients, attempting to verify if there is any kind of association between the selected polymorphisms as risk factors for AD. Our results show positive associations between five polymorphisms and AD (APOE rs429358 and rs7412, GAB2 rs2373115, GSK3B rs6438552 and SORL1 rs641120). Another consistent finding was that 20/21 polymorphisms analyzed showed at least one genotype associated with increased risk for AD at the presence of at least one APOE*E4 allele. We intend that our research might contribute to increase what is known about AD ethiology, by deciphering possible molecular susceptibility markers evolved with this pathology.

ASSUNTO(S)

polimorfismos de dna alzheimer s disease dna polymorphisms genética doença de alzheimer genetics

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