Association analysis of gene polymorphisms of ABCA7, Clusterin and MS4A6A in Alzheimer

Abstract

AD is the most widely recognized reason for dementia and a major public health problem. AD is a genetically heterogeneous disorder of CNS. It is a progressive brain disorder that cause memory loss and related with unusual behaviour, personality changes and an irreversible decline in thinking ability. The brain of an AD patient has a bounty of plaques and tangles. Plaques are stores of beta amyloid (Aβ) protein fragments that form in the spaces between nerve cells. Tangles are twisted filaments of another protein that builds up within the cells called tau protein. There are numerous hereditary loci which adjust AD hazard. The main known risk factor for AD is APOE ε4. Other genetic loci markers for AD risk included rs3764650 polymorphism in the ABCA7 gene, rs11136000 polymorphism in the CLU gene, and rs610932 polymorphism in the MS4A6A gene, that were identified in GWAS. These polymorphisms are on the “AlzGene Top Results” list which outlines the most settled genes related to AD. As genetics for AD in Egyptian population need to be explored, so the aim of the current study was to investigate the association of ABCA7 rs3764650, CLU rs11136000 and MS4A6A rs610932 genetic variants with AD in a sample of Egyptian patients hoping to establish molecular biomarkers for early detection of the susceptibility to develop AD and therefore early treatment of this neurodegenerative disease.