What you carry at this position in your DNA and what research says about it.
Cardiovascular Health: 8/10 evidence, 18 publications.
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Sample genotype (not yours): G/G
Lower Risk of Heart Disease
A double dose of the common G allele is linked to a healthier cardiovascular profile, including lower blood pressure and a reduced risk of heart attacks. However, it slightly increases the likelihood of developing childhood-onset asthma.
What this genotype means: Lower risk of coronary artery disease and heart attacks; Lower risk of hypertension and lower systolic blood pressure; Higher circulating levels of HDL cholesterol.
Sample genotype (not yours): A/A
Higher Risk of Heart Disease
Two copies of the minor A allele are linked to an elevated risk of coronary artery disease, heart attacks, and high blood pressure. This genotype also increases susceptibility to gout and lupus but lowers the risk of childhood asthma.
What this genotype means: Increased risk of coronary artery disease and heart attacks; Higher risk of hypertension and elevated systolic blood pressure; Lower circulating levels of HDL cholesterol.
Sample genotype (not yours): A/G
Slightly Elevated Heart Disease Risk
Carrying one copy of the A allele is associated with a modest increase in the risk of high blood pressure and heart disease. On the positive side, this genetic makeup offers some protection against childhood-onset asthma.
What this genotype means: Slightly increased risk of coronary artery disease and heart attacks; Slightly higher risk of hypertension; Slightly lower levels of HDL cholesterol.
Gene function and biological role
Gene Function: The ATXN2 gene encodes ataxin-2, a protein that plays a critical role in regulating RNA translation and cellular metabolism. While trinucleotide repeat expansions in this gene are well-known for causing spinocerebellar ataxia type 2, common single nucleotide variants in the region influence a broad range of systemic traits. The ATXN2 locus is in tight linkage disequilibrium with the neighboring SH2B3 gene, which regulates immune and inflammatory signaling [1]. Together, these genes form a highly pleiotropic region that affects cardiovascular health, lipid levels, and autoimmune susceptibility [2]. Variations in this region can alter vascular homeostasis and immune cell activation, contributing to conditions like coronary artery disease and lupus [3].
Variant Impact: The rs10774625 variant is an intronic single nucleotide polymorphism located within the ATXN2 gene. Because it resides in an intron, it does not directly alter the amino acid sequence of the ataxin-2 protein. Instead, it serves as a strong genetic marker for a haplotype that spans both the ATXN2 and SH2B3 genes [1]. This variant is strongly associated with changes in circulating metabolic biomarkers, including HDL cholesterol and fatty acids [4]. It also influences susceptibility to inflammatory and cardiovascular conditions, such as myocardial infarction and hypertension [2]. The G allele is generally protective against cardiovascular issues, whereas the A allele increases risk [2].
Key Insight: This single genetic marker simultaneously influences cardiovascular health, lipid levels, autoimmune disease risk, and respiratory health due to its location in a highly active gene cluster.
Location: ATXN2. Chromosome 12 · 12q24.12 · 111.5 Mb
Estimated prevalence by population
Global 14.9%; European 24.9%; African 0.7%; East Asian < 0.1%; South Asian 0.9%; Americas 8.8%; Ashkenazi 45.2%; Finnish 18.2%; Middle Eastern 15.2%; Amish 21.2%.
Estimated AA genotype frequency.
Global 36.6%; European 50.0%; African 15.4%; East Asian 0.4%; South Asian 17.4%; Americas 41.7%; Ashkenazi 44.1%; Finnish 48.9%; Middle Eastern 47.6%; Amish 49.7%.
Estimated AG genotype frequency.
Global 48.5%; European 25.2%; African 83.9%; East Asian 99.6%; South Asian 81.7%; Americas 49.5%; Ashkenazi 10.8%; Finnish 32.8%; Middle Eastern 37.2%; Amish 29.1%.
Estimated GG genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 8/10. Source: PMID 28714975. Lower Risk.
Heart Attack. Evidence: 8/10. Source: PMID 33532862. Lower Risk.
Hypertension
Hypertension. Evidence: 8/10. Source: PMID 31879980. Lower Risk.
Gout & Uric Acid
Gout. Evidence: 6/10. Source: PMID 39406924. Lower Risk.
Lipids & Cholesterol
HDL Cholesterol. Evidence: 8/10. Source: PMID 33619380. Higher Levels.
Immunity & Inflammation
Autoimmune Diseases
Lupus. Evidence: 6/10. Source: PMID 26502338. Lower Risk.
Organ Systems
Respiratory Health
Childhood Asthma. Evidence: 6/10. Source: PMID 31036433. ~1.09x Risk.
Showing effects for A/A genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 28714975. ~1.06x Risk.
Heart Attack. Evidence: 8/10. Source: PMID 33532862. ~1.08x Risk.
Hypertension. Evidence: 8/10. Source: PMID 31879980. Increased Risk.
Gout. Evidence: 6/10. Source: PMID 39406924. ~1.07x Risk.
HDL Cholesterol. Evidence: 8/10. Source: PMID 33619380. Lower Levels.
Lupus. Evidence: 6/10. Source: PMID 26502338. ~1.13x Risk.
Childhood Asthma. Evidence: 6/10. Source: PMID 31036433. Lower Risk.
Showing effects for A/G genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 28714975. Slightly Higher Risk.
Heart Attack. Evidence: 8/10. Source: PMID 33532862. Slightly Higher Risk.
Hypertension. Evidence: 8/10. Source: PMID 31879980. Slightly Higher Risk.
Gout. Evidence: 6/10. Source: PMID 39406924. Slightly Higher Risk.
HDL Cholesterol. Evidence: 8/10. Source: PMID 33619380. Slightly Lower Levels.
Lupus. Evidence: 6/10. Source: PMID 26502338. Slightly Higher Risk.
Childhood Asthma. Evidence: 6/10. Source: PMID 31036433. Slightly Lower Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Having two copies of the G allele is associated with a lower risk of several major cardiovascular conditions. Large-scale genetic studies show a reduced likelihood of developing coronary artery disease [1] and myocardial infarction [2]. This protective effect extends to blood pressure regulation, with a lower risk of hypertension [3] and lower systolic blood pressure measurements [4]. Additionally, this genotype is linked to higher levels of circulating HDL cholesterol, often referred to as good cholesterol [4]. Beyond cardiovascular health, carrying two G alleles is associated with a lower risk of systemic lupus erythematosus [5] and gout [6]. The primary trade-off is a slightly elevated risk of childhood-onset asthma [7].
Lower risk of coronary artery disease and heart attacks; Lower risk of hypertension and lower systolic blood pressure; Higher circulating levels of HDL cholesterol; Slightly increased risk of childhood-onset asthma.
Sample genotype: AA (Homozygous)
Carrying two copies of the A allele is associated with the highest genetic risk at this locus for several cardiovascular and inflammatory conditions. Clinical data link this genotype to an increased risk of coronary artery disease [1] and myocardial infarction [2]. It is also associated with higher systolic blood pressure and an elevated risk of hypertension [3]. Furthermore, this genetic profile is linked to a higher susceptibility to systemic lupus erythematosus [4] and gout [5]. Individuals with this genotype typically have lower levels of protective HDL cholesterol [3]. However, a significant protective effect is observed against childhood-onset asthma, with a lower likelihood of developing this respiratory condition [6].
Increased risk of coronary artery disease and heart attacks; Higher risk of hypertension and elevated systolic blood pressure; Lower circulating levels of HDL cholesterol; Significantly lower risk of childhood-onset asthma.
Sample genotype: AG (Heterozygous)
Inheriting one copy of the A allele and one copy of the G allele represents an intermediate genetic profile for cardiovascular and autoimmune health. This combination is linked to a slightly elevated risk of coronary artery disease [1] and myocardial infarction [2] compared to the G/G genotype. Blood pressure levels may also be slightly higher, increasing the susceptibility to hypertension [3]. The presence of the A allele also modestly raises the risk of developing systemic lupus erythematosus [4] and gout [5]. Conversely, this genotype is associated with slightly lower levels of HDL cholesterol [6]. A notable benefit of carrying one A allele is a reduced risk of childhood-onset asthma [7].
Slightly increased risk of coronary artery disease and heart attacks; Slightly higher risk of hypertension; Slightly lower levels of HDL cholesterol; Reduced risk of childhood-onset asthma.
Variants with shared genetic architecture
rs653178 · ATXN2 Gene · Chr 12 · Autoimmune and Heart Health
rs4766578 · ATXN2 Gene · Chr 12 · Heart Disease Risk
rs597808 · ATXN2 Gene · Chr 12 · Heart and Colon Health
Thrombotic antiphospholipid syndrome shows strong haplotypic association with SH2B3-ATXN2 locus.
Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities.
Genome-wide characterization of circulating metabolic biomarkers.
Genome-wide analysis identifies novel susceptibility loci for myocardial infarction.
A genome-wide association analysis reveals new pathogenic pathways in gout.
Content updated August 2026.
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