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Current Genetic Medicine Reports

, Volume 7, Issue 1, pp 1–12 | Cite as

Protective Variants in Alzheimer’s Disease

  • Shea J. Andrews
  • Brian Fulton-Howard
  • Alison GoateEmail author
Neurogenetics and Psychiatric Genetics (C Cruchaga and C Karch, Section Editors)
  • 74 Downloads
Part of the following topical collections:
  1. Topical Collection on Neurogenetics and Psychiatric Genetics

Abstract

Purpose of Review

Over the last decade, over 40 loci have been associated with risk of Alzheimer’s disease (AD). However, most studies have either focused on identifying risk loci or performing unbiased screens without a focus on protective variation in AD. Here, we provide a review of known protective variants in AD and their putative mechanisms of action. Additionally, we recommend strategies for finding new protective variants.

Recent Findings

Recent Genome-Wide Association Studies have identified both common and rare protective variants associated with AD. These include variants in or near APP, APOE, PLCG2, MS4A, MAPT-KANSL1, RAB10, ABCA1, CCL11, SORL1, NOCT, SCL24A4-RIN3, CASS4, EPHA1, SPPL2A, and NFIC.

Summary

There are very few protective variants with functional evidence and a derived allele with a frequency below 20%. Additional fine mapping and multi-omic studies are needed to further validate and characterize known variants as well as specialized genome-wide scans to identify novel variants.

Keywords

Alzheimer’s disease Protective SNP Genetic variants 

Notes

Compliance with Ethical Standards

Conflict of Interest

Shea J Andrews and Brian Fulton-Howard each declare no potential conflict of interest.

Alison Goate reports a grant from the NIH (NIA 1 U01 AG049508).

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

Supplementary material

40142_2019_156_MOESM1_ESM.xlsx (101 kb)
Supplementary Table 1: Reported Protective variants for Alzheimer's disease identified in our literature search. (XLSX 100 kb)

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Shea J. Andrews
    • 1
  • Brian Fulton-Howard
    • 1
  • Alison Goate
    • 1
    Email author
  1. 1.Department of NeuroscienceIcahn School of Medicine at Mount SinaiNew YorkUSA

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