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Genes Associated with Alzheimer's Disease

These genes affect Alzheimer's risk—but risk is not destiny. Environment and lifestyle powerfully modify genetic susceptibility.

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Genetics explains ~60-80% of Alzheimer's risk variance—but that's not what you think it means.

High heritability doesn't mean genes are destiny. It means that among people with similar environments, genetic differences explain risk differences. Change the environment, and the risk equation changes. Lifestyle factors can override even APOE4 risk in many cases.

The genes.

Organized by biological function—what they actually do in the brain.

Lipid Transport & Clearance

The brain needs efficient lipid transport and debris clearance. These genes affect both.

APOELipid transport & debris clearance

The most significant genetic risk factor. APOE4 reduces amyloid clearance efficiency. But ~50% of E4/E4 carriers never develop Alzheimer's.

E4/E4: ~12x risk increase; E3/E4: ~3x risk increase

CLU (Clusterin)

Amyloid chaperone

Helps clear amyloid-beta from the brain. Variants affect clearance efficiency.

Common variants have modest risk effects

ABCA7

Lipid transport

Transports lipids across cell membranes. Involved in amyloid processing and microglial function.

Loss-of-function variants increase risk

Immune & Microglial Function

The brain's immune cells (microglia) are critical for clearing debris. These genes affect their function.

TREM2

Microglial activation

Triggers microglia to clear amyloid plaques. Rare variants significantly increase Alzheimer's risk.

R47H variant: ~3-4x risk increase (rare)

CD33

Microglial inhibition

Inhibits microglial phagocytosis. Some variants reduce CD33, which is protective.

Protective variants exist

MS4A cluster

Immune signaling

Family of genes involved in immune cell signaling. Multiple variants affect Alzheimer's risk.

Various SNPs with modest effects

Amyloid Processing

These genes directly affect how amyloid precursor protein is processed.

APP

Amyloid precursor protein

The protein that gets cleaved into amyloid-beta. Rare mutations cause early-onset familial Alzheimer's.

Rare mutations = early-onset AD; A673T is protective

PSEN1/PSEN2

Gamma-secretase components

Part of the enzyme complex that cleaves APP. Mutations cause early-onset familial Alzheimer's.

Rare mutations = guaranteed early-onset AD

Tau & Cytoskeleton

Tau tangles are the other hallmark of Alzheimer's. These genes affect tau and cellular structure.

MAPT

Tau protein

Encodes tau protein. While not a major Alzheimer's risk gene, tau pathology is central to the disease.

H1 haplotype associated with tauopathies

BIN1

Endocytosis & tau spreading

Second strongest genetic risk factor after APOE. Affects how tau spreads between neurons.

Common variants increase risk modestly

Vascular & Metabolic

Brain health depends on blood flow and metabolism. These genes connect cardiovascular and brain health.

INPP5D

Immune signaling

Regulates microglial function and inflammation. Connects immune and metabolic pathways.

Variants affect microglial activation

SORL1

APP trafficking

Directs APP away from amyloid-producing pathways. Low SORL1 increases amyloid production.

Reduced expression increases risk

The APOE4 story.

APOE4 is the elephant in the room. Here's what the research actually shows.

The numbers in context

  • E4/E4 carriers: ~50% develop Alzheimer's by age 85. That means ~50% don't.
  • E3/E4 carriers: ~25-30% lifetime risk. Lower than you'd think.
  • Nigerian Yoruba with E4: Much lower Alzheimer's rates than American E4 carriers—same gene, different environment.
  • Exercise in E4 carriers: Can reduce risk to near-baseline levels in some studies.

Why APOE4 may have persisted

APOE4 was likely advantageous historically—better immune response to infections, improved fertility, and beneficial in high-pathogen environments. It's a mismatch with modern life (sedentary, high-sugar, sleep-deprived) that makes it problematic, not the gene itself.

What actually matters.

These factors can powerfully modify genetic risk—even for APOE4 carriers.

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Sleep & Glymphatic Clearance

The brain clears amyloid during deep sleep. Poor sleep = poor clearance, regardless of genetics.

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Metabolic Health

Type 2 diabetes doubles Alzheimer's risk. Insulin resistance impairs brain glucose use and increases inflammation.

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Exercise & Blood Flow

Exercise increases BDNF, improves blood flow, and enhances clearance. One of the strongest protective factors.

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Omega-3 & DHA

APOE4 carriers may need more DHA. The brain is 60% fat—it needs the right building blocks.

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Inflammation

Chronic inflammation accelerates neurodegeneration. Anti-inflammatory lifestyle choices matter.

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Cognitive Reserve

Education, social engagement, and mental stimulation build resilience against pathology.

"Alzheimer's genes don't cause Alzheimer's. They reveal a brain that needs different support to stay healthy."
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