Sex Differences in the Genetic Architecture of Alzheimer's Disease.

IF 1.4 Q4 GENETICS & HEREDITY

Current genetic medicine reports Pub Date : 2019-03-01 Epub Date: 2019-01-21 DOI:10.1007/s40142-019-0157-1

Logan Dumitrescu, Elizabeth Rose Mayeda, Kavya Sharman, Annah M Moore, Timothy J Hohman

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Abstract

Purpose of review: Summarize sex-specific contributors to the genetic architecture of Alzheimer's disease (AD).

Recent findings: There are sex differences in the effects of Apolipoprotein E (APOE), genes along the APOE pathway, and genes along the neurotrophic signaling pathway in predicting AD. Reported sex differences are largely driven by stronger associations among females. Evidence also suggests that genetic predictors of amyloidosis are largely shared across sexes, while sex-specific genetic effects emerge downstream of amyloidosis and drive the clinical manifestation of AD.

Summary: There is a lack of comprehensive assessments of sex differences in genome-wide analyses of AD and a need for more systematic reporting a sex-stratified genetic effects. The emerging emphasis on sex as a biological variable provides an opportunity for transdisciplinary collaborations aimed at addressing major analytical challenges that have hampered advancements in the field. Ultimately, sex-specific genetic association studies represent a logical first step towards precision medicine.

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阿尔茨海默病遗传结构中的性别差异。

综述目的：总结阿尔茨海默病（AD）遗传结构的性别特异性因素。最近的发现：载脂蛋白E（APOE）、沿着APOE通路的基因和沿着神经营养信号通路的基因在预测AD方面的作用存在性别差异。报道的性别差异在很大程度上是由女性之间更强的关联驱动的。证据还表明，淀粉样变性的遗传预测因子在很大程度上是性别共有的，而淀粉样变性下游出现的性别特异性遗传效应驱动了AD的临床表现。总结：在AD的全基因组分析中，缺乏对性别差异的全面评估，需要更系统地报告性别分层的遗传效应。性别作为一个生物学变量的日益强调为跨学科合作提供了机会，旨在解决阻碍该领域进步的主要分析挑战。最终，性别特异性基因关联研究代表着迈向精准医学的合乎逻辑的第一步。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Current genetic medicine reports

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