What you carry at this position in your DNA and what research says about it.
Heart and Metabolic Health: 8/10 evidence, 18 publications.
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Sample genotype (not yours): A/A
Higher Cholesterol and Metabolic Risk
Elevated LDL cholesterol and a higher body mass index are associated with this genotype. Respiratory health may also be affected by a slightly increased risk of asthma.
What this genotype means: Higher LDL and total cholesterol; Increased body mass index; Slightly higher risk of asthma.
Sample genotype (not yours): A/G
Slightly Elevated Cholesterol and Metabolic Risk
A single copy of the A allele is linked to modest increases in cholesterol levels and body mass index. Response to certain blood pressure medications remains favorable.
What this genotype means: Modestly higher cholesterol levels; Slightly higher body mass index; Favorable response to thiazide diuretics.
Sample genotype (not yours): G/G
Lower Cholesterol but Higher Congenital Heart Risk
Favorable metabolic traits like lower cholesterol and BMI are offset by a higher risk of a congenital heart defect. This trade-off makes the genotype unique.
What this genotype means: Lower LDL and total cholesterol; Lower average body mass index; Increased risk of tetralogy of Fallot at birth.
Gene function and biological role
Gene Function: The BRAP and ATXN2 genes are located in a highly active genomic region on chromosome 12 [1]. BRAP encodes a protein that regulates inflammatory signaling pathways and interacts with tumor suppressors [2]. ATXN2 is involved in RNA regulation, and its mutations are famously linked to neurodegenerative disorders [3]. However, common variations in this region also influence metabolic traits like obesity and lipid levels [4]. Together, these genes play a crucial role in cardiovascular development, immune response, and metabolic rate [1] [4].
Variant Impact: Located between the BRAP and ATXN2 genes, rs11065987 is an intergenic marker that acts as a regulatory switch [5]. This genetic variant alters the expression of nearby genes involved in inflammation and lipid metabolism [5]. It has been strongly linked to variations in body mass index, cholesterol levels, and blood cell traits [6] [4]. Additionally, it influences the risk of congenital heart conditions and respiratory health [7] [8].
Key Insight: This variant presents a stark genetic trade-off where the genotype that protects against high cholesterol and obesity actually increases the risk of a rare congenital heart defect.
Location: BRAP. Chromosome 12 · 12q24.12 · 111.6 Mb
Estimated prevalence by population
Global 53.7%; European 32.8%; African 86.4%; East Asian 99.7%; South Asian 85.2%; Americas 54.3%; Ashkenazi 12.5%; Finnish 38.6%; Middle Eastern 40.1%; Amish 37.1%.
Estimated AA genotype frequency.
Global 35.0%; European 48.9%; African 13.1%; East Asian 0.3%; South Asian 14.2%; Americas 38.7%; Ashkenazi 45.7%; Finnish 47.1%; Middle Eastern 46.4%; Amish 47.6%.
Estimated AG genotype frequency.
Global 11.2%; European 18.2%; African 0.5%; East Asian < 0.1%; South Asian 0.6%; Americas 6.9%; Ashkenazi 41.8%; Finnish 14.3%; Middle Eastern 13.4%; Amish 15.3%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
Cholesterol Levels. Evidence: 8/10. Source: PMID 20686565. Higher LDL.
Obesity & Body Composition
Body Mass Index. Evidence: 8/10. Source: PMID 25673413. Higher BMI.
Rare Genetic Disorders
Congenital Malformations
Congenital Heart Defect. Evidence: 4/10. Source: PMID 23297363. Typical Risk.
Organ Systems
Respiratory Health
Asthma. Evidence: 6/10. Source: PMID 32296059. Increased Risk.
Pharmacogenomics
Cardiovascular Drug Response
Thiazide Response. Evidence: 5/10. Source: PMID 29925376. Stronger Response.
Showing effects for A/G genotype
Cholesterol Levels. Evidence: 8/10. Source: PMID 20686565. Slightly Higher LDL.
Body Mass Index. Evidence: 8/10. Source: PMID 25673413. Slightly Higher BMI.
Asthma. Evidence: 6/10. Source: PMID 32296059. Slightly Higher Risk.
Showing effects for G/G genotype
Cholesterol Levels. Evidence: 8/10. Source: PMID 20686565. Lower LDL.
Body Mass Index. Evidence: 8/10. Source: PMID 25673413. Lower BMI.
Congenital Heart Defect. Evidence: 4/10. Source: PMID 23297363. ~1.3x TOF Risk.
Asthma. Evidence: 6/10. Source: PMID 32296059. Typical Risk.
Thiazide Response. Evidence: 5/10. Source: PMID 29925376. Typical Response.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Having two copies of the A allele is consistently linked to higher levels of both LDL and total cholesterol [1]. This genetic profile is also associated with a higher body mass index and an increased predisposition to obesity [2]. Furthermore, research suggests a slightly elevated risk of developing asthma due to altered immune pathways [3]. On the positive side, this genotype is protective against a rare congenital heart defect known as tetralogy of Fallot [4]. Additionally, individuals with this genotype tend to show a better blood pressure response when treated with thiazide diuretics [5].
Higher LDL and total cholesterol; Increased body mass index; Slightly higher risk of asthma.
Sample genotype: AG (Heterozygous)
Carrying one copy of the A allele represents an intermediate genetic profile for metabolic and cardiovascular traits. Studies show modest increases in total cholesterol and LDL levels compared to the baseline [1]. There is also a slight upward trend in body mass index and overall body weight [2]. Respiratory health may be minimally affected, with a very slight increase in asthma susceptibility [3]. However, this genotype maintains a typical, low risk for congenital heart defects like tetralogy of Fallot [4]. It also preserves a highly favorable blood pressure response to thiazide diuretic medications [5].
Modestly higher cholesterol levels; Slightly higher body mass index; Favorable response to thiazide diuretics.
Sample genotype: GG (Homozygous)
This genotype presents a fascinating biological trade-off between metabolic benefits and developmental risks. On the beneficial side, carrying two copies of the G allele is associated with lower LDL cholesterol and healthier lipid profiles [1]. It is also linked to a lower average body mass index and a reduced risk of asthma [2] [3]. However, this genetic makeup is associated with an approximate 1.3-fold increase in the risk of tetralogy of Fallot, a congenital heart defect [4]. While this developmental risk is primarily relevant during fetal heart formation, it represents a significant genetic link [4]. Finally, this genotype is associated with a standard, typical response to thiazide diuretics [5].
Lower LDL and total cholesterol; Lower average body mass index; Increased risk of tetralogy of Fallot at birth.
Variants with shared genetic architecture
rs3782886 · BRAP Gene · Chr 12 · Heart Attack Risk
rs11065979 · BRAP Gene · Chr 12 · Cardiovascular and Immune Health
rs11066001 · BRAP Gene · Chr 12 · Cardiovascular Health
Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.
Discovery and refinement of loci associated with lipid levels.
Genetic studies of body mass index yield new insights for obesity biology.
Content updated August 2026.
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