What you carry at this position in your DNA and what research says about it.
Alzheimer's Disease Risk: 10/10 evidence, 63 publications.
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Sample genotype (not yours): A/A
Typical Alzheimer's Risk and Greater Longevity
A baseline risk of late-onset Alzheimer's disease is typical for this genetic profile. This common genetic makeup is also linked to a higher likelihood of exceptional longevity and healthy cognitive aging.
What this genotype means: Typical risk of late-onset Alzheimer's disease; Increased likelihood of exceptional longevity; Standard response to statin medications.
Sample genotype (not yours): A/G
Increased Alzheimer's Risk and Poorer Statin Response
An elevated risk of late-onset Alzheimer's disease is associated with carrying one copy of the G allele. This genetic profile may also lead to slightly higher LDL cholesterol levels and a reduced response to common statin medications.
What this genotype means: Approximately 2x higher risk of late-onset Alzheimer's disease; Slightly elevated LDL cholesterol levels; Reduced effectiveness of statin therapies.
Sample genotype (not yours): G/G
Significantly Higher Alzheimer's Risk and Lower Longevity
A significantly increased risk of late-onset Alzheimer's disease is linked to having two copies of the G allele. This genetic profile is also associated with higher LDL cholesterol levels, reduced lifespan, and a poorer response to statins.
What this genotype means: Approximately 4x higher risk of late-onset Alzheimer's disease; Earlier onset of cognitive decline symptoms; Higher LDL cholesterol and poorer statin response.
Gene function and biological role
Gene Function: The TOMM40 gene encodes a channel-forming protein located in the outer membrane of mitochondria, which are the energy-producing powerhouses of cells. This protein, known as Translocase of Outer Mitochondrial Membrane 40, is essential for importing other proteins into mitochondria to maintain cellular respiration and energy production. Because of its critical role in mitochondrial health, variations in this gene can lead to mitochondrial dysfunction and cellular stress. The gene is situated in a highly complex genomic region on chromosome 19, directly adjacent to the well-known APOE gene. Due to this close proximity, TOMM40 is heavily studied for its strong genetic links to neurodegenerative diseases, cognitive aging, and lipid metabolism [1] [2].
Variant Impact: The rs2075650 variant is an intronic single nucleotide change located within the TOMM40 gene. This genetic variation alters the regulation or expression of the mitochondrial translocase, which can impact how efficiently cells import proteins into their mitochondria. Because it is in tight linkage disequilibrium with the APOE gene, this specific variant serves as a powerful genetic marker for late-onset Alzheimer's disease and cognitive decline [3]. Additionally, the variant is associated with differences in lipid levels, cardiovascular health, and overall lifespan [2].
Read on the Sense of Smell page
Key Insight: Although located in the TOMM40 gene, this variant is so closely linked to the famous APOE gene that it acts as a proxy for Alzheimer's risk, yet research suggests it also independently influences mitochondrial health.
Location: TOMM40. Chromosome 19 · 19q13.32 · 44.9 Mb
Estimated prevalence by population
Global 75.3%; European 74.3%; African 75.8%; East Asian 79.5%; South Asian 77.3%; Americas 80.0%; Ashkenazi 78.4%; Finnish 68.5%; Middle Eastern 87.5%; Amish 73.3%.
Estimated AA genotype frequency.
Global 22.9%; European 23.8%; African 22.5%; East Asian 19.3%; South Asian 21.2%; Americas 18.9%; Ashkenazi 20.3%; Finnish 28.5%; Middle Eastern 12.1%; Amish 24.6%.
Estimated AG genotype frequency.
Global 1.8%; European 1.9%; African 1.7%; East Asian 1.2%; South Asian 1.5%; Americas 1.1%; Ashkenazi 1.3%; Finnish 3.0%; Middle Eastern 0.4%; Amish 2.1%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Neurology & Mental Health
Neurodegenerative Diseases
Alzheimer's Disease. Evidence: 10/10. Source: PMID 19734902. Typical Risk.
Memory, Learning & Attention
Memory Performance. Evidence: 6/10. Source: PMID 35974141. Better Memory.
Lifestyle, Fitness & Aging
Aging & Longevity
Lifespan. Evidence: 6/10. Source: PMID 21418511. Greater Longevity.
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 9/10. Source: PMID 21943158. Typical LDL.
Obesity & Body Composition
Body Mass Index. Evidence: 10/10. Source: PMID 25673413. Slightly Higher BMI.
Organ Systems
Vision & Eye Health
Macular Degeneration. Evidence: 4/10. Source: PMID 22694956. ~1.29x Higher Risk.
Pharmacogenomics
Lipid-Lowering Drug Response
Statin Response. Evidence: 5/10. Source: PMID 27045730. Typical Response.
Showing effects for A/G genotype
Alzheimer's Disease. Evidence: 10/10. Source: PMID 19734902. ~2x Higher Risk.
Memory Performance. Evidence: 6/10. Source: PMID 35974141. Typical Memory.
Lifespan. Evidence: 6/10. Source: PMID 21418511. Typical Lifespan.
LDL Cholesterol. Evidence: 9/10. Source: PMID 21943158. Slightly Higher LDL.
Body Mass Index. Evidence: 10/10. Source: PMID 25673413. Typical BMI.
Macular Degeneration. Evidence: 4/10. Source: PMID 22694956. Slightly Higher Risk.
Statin Response. Evidence: 5/10. Source: PMID 27045730. Poorer Response.
Showing effects for G/G genotype
Alzheimer's Disease. Evidence: 10/10. Source: PMID 19734902. ~4x Higher Risk.
Memory Performance. Evidence: 6/10. Source: PMID 35974141. Lower Memory.
Lifespan. Evidence: 6/10. Source: PMID 21418511. Reduced Lifespan.
LDL Cholesterol. Evidence: 9/10. Source: PMID 21943158. Higher LDL.
Body Mass Index. Evidence: 10/10. Source: PMID 25673413. Slightly Lower BMI.
Macular Degeneration. Evidence: 4/10. Source: PMID 22694956. Lower Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Mitochondrial function remains at a standard baseline level with this common genetic profile. Large-scale genetic studies show that the A allele is associated with a lower risk of developing late-onset Alzheimer's disease compared to the G allele [1]. Research also links this specific genetic makeup to a higher probability of living past ninety, indicating a protective effect on lifespan [2]. Cognitive performance, particularly verbal memory in later life, tends to remain stable [3]. However, there is a slightly higher risk of developing age-related macular degeneration compared to those with the G allele [4]. Cardiovascular markers, including LDL cholesterol and C-reactive protein, generally remain within typical ranges [5]. Response to cholesterol-lowering statin medications is also typical, allowing for standard treatment outcomes [6].
Typical risk of late-onset Alzheimer's disease; Increased likelihood of exceptional longevity; Standard response to statin medications.
Sample genotype: AG (Heterozygous)
Mitochondrial efficiency may be slightly altered due to the presence of the G allele. Clinical studies indicate that having one copy of this variant allele is associated with an approximately twofold increase in the risk of late-onset Alzheimer's disease [1]. The onset of cognitive symptoms may also occur several years earlier than in those with the typical genotype [2]. In addition to neurological risks, this genetic profile is linked to slightly elevated levels of LDL cholesterol [3]. Response to cholesterol-lowering statin therapies may be less effective, which can influence cardiovascular management strategies [4]. There is also a minor reduction in the likelihood of achieving exceptional longevity [5]. Conversely, this genetic makeup is associated with a slightly lower risk of developing age-related macular degeneration [6].
Approximately 2x higher risk of late-onset Alzheimer's disease; Slightly elevated LDL cholesterol levels; Reduced effectiveness of statin therapies.
Sample genotype: GG (Homozygous)
Mitochondrial function and cellular energy production may be compromised by this rare genetic profile. Research demonstrates that carrying two copies of the G allele is associated with an approximately fourfold increase in the risk of late-onset Alzheimer's disease [1]. The age of disease onset is frequently accelerated, occurring up to seven years earlier than average [2]. Cognitive decline and memory performance in later life are often more pronounced [3]. Cardiovascular health may also be affected, as this genotype is linked to higher LDL cholesterol levels [4]. Standard statin medications used to manage cholesterol may show a poorer response, requiring alternative therapeutic approaches [5]. Furthermore, this genetic makeup is associated with a reduced likelihood of exceptional longevity [6]. On a protective note, there is a significantly lower risk of developing age-related macular degeneration [7].
Approximately 4x higher risk of late-onset Alzheimer's disease; Earlier onset of cognitive decline symptoms; Higher LDL cholesterol and poorer statin response.
Variants with shared genetic architecture
rs157580 · TOMM40 Gene · Chr 19 · Alzheimer's Disease Risk
rs157582 · TOMM40 Gene · Chr 19 · Cognitive Decline Risk
rs1160985 · TOMM40 Gene · Chr 19 · Alzheimer's Disease Risk
Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.
Genome-wide analysis of genetic loci associated with Alzheimer disease.
A genetic risk score is associated with statin-induced low-density lipoprotein cholesterol lowering.
Sex-specific genetic architecture of late-life memory performance.
Content updated August 2026.
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