NDLI: Validating GWAS Variants from Microglial Genes Implicated in Alzheimer’s Disease

Content Provider	Springer Nature Link
Author	Santos, Lígia Ramos Pimassoni, Lúcia Helena Sagrillo Sena, Geralda Gillian Silva Camporez, Daniela Belcavello, Lucia Trancozo, Maíra Morelato, Renato Lírio Errera, Flavia Imbroisi Valle Bue, Maria Rita Passos Paula, Flavia
Copyright Year	2017
Abstract	Late-onset Alzheimer’s disease (LOAD) is a multifactorial neurodegenerative disorder that corresponds to most Alzheimer’s disease (AD) cases. Inflammation is frequently related to AD, whereas microglial cells are the major phagocytes in the brain and mediate the removal of Aβ peptides. Microglial cell dsyregulation might contribute to the formation of amyloid plaques, a hallmark of AD. Genome-wide association studies have reported genetic loci associated with the inflammatory pathway involved in AD. Among them, rs3865444 CD33, rs3764650 ABCA7, rs6656401 CR1, and rs610932 MS4A6A variants in microglial genes are associated with LOAD. These variants are proposed to participate in the clearance of Aβ peptides. However, their association with LOAD was not validated in all case-control studies. Thus, the present work aimed to assess the involvement of CD33 (rs3865444), ABCA7 (rs3764650), CR1 (rs6656401), and MS4A6A (rs610932) with LOAD in a sample from southeastern Brazil. The genotype frequencies were assessed in 79 AD patients and 145 healthy elders matched for sex and age. We found that rs3865444 CD33 acts as a protective factor against LOAD. These results support a role for the inflammatory pathway in LOAD.
Starting Page	215
Ending Page	221
Page Count	7
File Format	PDF
ISSN	08958696
Journal	Journal of Molecular Neuroscience
Volume Number	62
Issue Number	2
e-ISSN	15591166
Language	English
Publisher	Springer US
Publisher Date	2017-05-05
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Load Case-control study Microglial genes Polymorphisms Neurosciences Neurochemistry Cell Biology Proteomics Neurology
Content Type	Text
Resource Type	Article
Subject	Medicine Cellular and Molecular Neuroscience

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