What you carry at this position in your DNA and what research says about it.
Alzheimer's Disease Risk: 8/10 evidence, 16 publications.
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Sample genotype (not yours): C/C
Higher Alzheimer's and Blood Pressure Risk
Two copies of the C allele are linked to an increased risk of late-onset Alzheimer's disease, particularly when paired with the APOE e4 variant. This genetic profile is also associated with slightly higher diastolic blood pressure.
What this genotype means: Increased risk of late-onset Alzheimer's disease; Slightly higher diastolic blood pressure.
Sample genotype (not yours): A/A
Typical Alzheimer's and Blood Pressure Risk
Two copies of the A allele are associated with a typical or lower risk of late-onset Alzheimer's disease. This genotype is also linked to slightly lower diastolic blood pressure and slightly taller height.
What this genotype means: Typical baseline risk of late-onset Alzheimer's disease; Typical diastolic blood pressure; Slightly taller physical height.
Sample genotype (not yours): C/A
Slightly Higher Alzheimer's and Blood Pressure Risk
One copy of the C allele is associated with a moderate increase in late-onset Alzheimer's risk, especially in APOE e4 carriers. Diastolic blood pressure may also be slightly elevated compared to those with the A/A genotype.
What this genotype means: Mildly increased risk of late-onset Alzheimer's disease; Slightly higher diastolic blood pressure.
Gene function and biological role
Gene Function: The GAB2 gene encodes the GRB2-associated binding protein 2, a scaffolding protein involved in cellular signaling pathways [1]. It plays a critical role in transmitting signals from cell surface receptors to the interior of the cell, influencing cell growth and survival. In the brain, GAB2 is expressed in neurons and is involved in pathways that regulate tau protein phosphorylation and amyloid-beta clearance [1]. Alterations in GAB2 expression or function can contribute to the neurodegenerative processes characteristic of Alzheimer's disease [1]. Additionally, GAB2 is involved in cardiovascular regulation and inflammatory responses.
Variant Impact: The rs2373115 variant is an intronic single nucleotide polymorphism located within the GAB2 gene. This genetic change is thought to influence the expression levels of GAB2 and nearby genes in human brain tissues. The C allele is the risk-associated variant, showing a strong correlation with increased susceptibility to late-onset Alzheimer's disease, particularly in APOE e4 carriers [1]. It is also associated with a small increase in diastolic blood pressure [2]. Conversely, the A allele is associated with typical risk levels and slightly lower blood pressure [2].
Key Insight: The GAB2 gene's influence on Alzheimer's risk is highly dependent on whether a person also carries the APOE e4 variant, illustrating a powerful gene-gene interaction.
Location: GAB2. Chromosome 11 · 11q14.1 · 78.4 Mb
Estimated prevalence by population
Global 58.3%; European 68.9%; African 46.5%; East Asian 35.0%; South Asian 48.6%; Americas 52.3%; Ashkenazi 49.1%; Finnish 63.4%; Middle Eastern 49.1%; Amish 79.0%.
Estimated CC genotype frequency.
Global 35.4%; European 28.2%; African 43.4%; East Asian 48.3%; South Asian 42.2%; Americas 40.1%; Ashkenazi 42.0%; Finnish 32.4%; Middle Eastern 41.9%; Amish 19.7%.
Estimated CA genotype frequency.
Global 6.3%; European 2.9%; African 10.1%; East Asian 16.7%; South Asian 9.2%; Americas 7.7%; Ashkenazi 9.0%; Finnish 4.1%; Middle Eastern 9.0%; Amish 1.2%.
Estimated AA genotype frequency.
Showing effects for C/C genotype
Neurology & Mental Health
Neurodegenerative Diseases
Alzheimer's Disease. Evidence: 4/10. Source: PMID 17553421. Increased Risk.
Cardiovascular & Metabolic
Hypertension
Diastolic Blood Pressure. Evidence: 6/10. Source: PMID 33230300. +0.21 mmHg.
Lifestyle, Fitness & Aging
Height & Body Size
Height. Evidence: 8/10. Source: PMID 36224396. Typical.
Showing effects for A/A genotype
Alzheimer's Disease. Evidence: 4/10. Source: PMID 17553421. Typical Risk.
Diastolic Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Typical.
Height. Evidence: 8/10. Source: PMID 36224396. Slightly Taller.
Showing effects for C/A genotype
Alzheimer's Disease. Evidence: 4/10. Source: PMID 17553421. Slightly Increased.
Diastolic Blood Pressure. Evidence: 6/10. Source: PMID 33230300. +0.11 mmHg.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Inheriting two copies of the C allele at this locus is associated with a significantly higher susceptibility to late-onset Alzheimer's disease [1]. This risk is highly dependent on the presence of the APOE e4 allele, which is the primary genetic risk factor for the disease [1]. In individuals who carry both the GAB2 C allele and the APOE e4 variant, the risk of developing Alzheimer's is substantially elevated [1]. However, studies in certain populations, such as Spanish and Chinese cohorts, have shown conflicting results, suggesting the effect may vary by ancestry [2] [3]. Beyond cognitive health, this genotype is also linked to a minor increase in diastolic blood pressure [4]. The GAB2 gene plays a role in cell signaling and tau protein phosphorylation, which are key processes in brain health [1]. Managing cardiovascular health through diet and exercise may help mitigate some of the associated risks.
Increased risk of late-onset Alzheimer's disease; Slightly higher diastolic blood pressure.
Sample genotype: AA (Homozygous)
Two copies of the protective A allele at this locus are associated with a typical baseline risk of late-onset Alzheimer's disease [1]. This genotype effectively avoids the elevated risk associated with the C allele, even in individuals who carry the APOE e4 variant [1]. Multiple replication studies and meta-analyses have confirmed that the absence of the C allele is protective against GAB2-related cognitive decline [2]. In addition to cognitive benefits, this genetic profile is linked to slightly lower diastolic blood pressure [3]. There is also a minor association with slightly increased physical height [4]. The GAB2 gene's normal function supports healthy cellular signaling in the brain without the pathological alterations seen with the risk variant [1]. Maintaining a healthy lifestyle continues to be the most effective way to support cardiovascular and cognitive longevity.
Typical baseline risk of late-onset Alzheimer's disease; Typical diastolic blood pressure; Slightly taller physical height.
Sample genotype: CA (Heterozygous)
Possessing one copy of the C allele and one copy of the A allele represents an intermediate genetic profile for late-onset Alzheimer's disease risk [1]. This moderate risk elevation is most pronounced in individuals who also carry the APOE e4 allele [1]. Some research suggests that the GAB2 variant may also act as an independent risk factor in non-carriers of APOE e4, though findings remain mixed across different ethnic groups [2] [3]. Additionally, each copy of the C allele is associated with a small, incremental increase in diastolic blood pressure [4]. The GAB2 protein is involved in signaling pathways that affect amyloid-beta and tau pathology in the brain [1]. While this genetic marker contributes to overall risk, lifestyle factors and cardiovascular health play a major role in determining actual outcomes. Regular physical activity and cognitive engagement are widely recommended to support long-term brain health.
Mildly increased risk of late-onset Alzheimer's disease; Slightly higher diastolic blood pressure.
Variants with shared genetic architecture
rs1799752 · ACE Gene · Chr 17 · Blood Pressure and Fitness
rs10857147 · FGF5 Gene · Chr 4 · Blood Pressure
rs11191580 · NT5C2 Gene · Chr 10 · Blood Pressure and Brain
GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.
GAB2 gene does not modify the risk of Alzheimer's disease in Spanish APOE 4 carriers.
GAB2 is not associated with late-onset Alzheimer's disease in Chinese Han.
Meta-analysis of the Association between Alzheimer Disease and Variants in GAB2, PICALM, and SORL1.
A saturated map of common genetic variants associated with human height.
Implication of GAB2 gene polymorphism in Italian patients with Alzheimer's disease.
GAB2 polymorphism rs2373115 confers susceptibility to sporadic Alzheimer's disease.
Content updated August 2026.
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