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P1‐139: THE CONTRIBUTION OF SEX‐SPECIFIC ASSOCIATIONS IN GENETIC STUDIES OF ALZHEIMER'S DISEASE PATHOLOGY

Abstract:

Background Women are disproportionately affected by Alzheimer's disease (AD) and more likely to manifest clinical symptoms in the presence of AD neuropathology. Yet, sex differences are often ignored or modeled as a nuisance variable in genetic association studies of AD. We performed comprehensive sex-specific genetic analyses of AD biomarkers and autopsy measures of AD neuropathology to evaluate whether sex-specific genetic effects contribute to AD pathogenesis. Methods First we performed a sex-stratified GWAS in 5,978 participants with autopsy measures of neurofibrillary tangles (Braak staging) and neuritic plaques (CERAD score). Then we used the innovative UTMOST (Unified Test for MOlecular SignaTures) method in 3,119 participants with CSF measures of Aβ 42 and total tau to test for sex-specific associations with pbkp_redicted gene expression. In these participants, gene expression profiles were …

Año de publicación:

2018

Keywords:

    Fuente:

    googlegoogle

    Tipo de documento:

    Other

    Estado:

    Acceso abierto

    Áreas de conocimiento:

    • Genética
    • Genética
    • Neuropsicología

    Áreas temáticas:

    • Medicina y salud
    • Fisiología humana
    • Enfermedades

    Contribuidores:

    Jefferson Michael Acosta OrtizJefferson Michael Acosta Ortiz