What you carry at this position in your DNA and what research says about it.
Cholesterol and Blood Pressure: 6/10 evidence, 21 publications.
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Sample genotype (not yours): A/A
Typical Cholesterol and Blood Pressure
Carrying two copies of the A allele is associated with typical baseline levels of cholesterol and blood pressure. It is also linked to standard, low adult levels of fetal hemoglobin.
What this genotype means: Higher baseline LDL cholesterol; Higher baseline diastolic blood pressure; Standard low adult fetal hemoglobin levels.
Sample genotype (not yours): A/G
Favorable Cholesterol and Blood Pressure
Carrying one copy of the G allele is associated with moderately lower cholesterol and blood pressure levels. It also provides a partial increase in fetal hemoglobin levels.
What this genotype means: Moderately lower LDL cholesterol; Moderately lower diastolic blood pressure; Slightly elevated fetal hemoglobin levels.
Sample genotype (not yours): G/G
Lower Cholesterol and Blood Pressure
Carrying two copies of the G allele is linked to healthier lipid profiles and lower blood pressure. It also promotes higher levels of fetal hemoglobin, which provides protection against red blood cell disorders.
What this genotype means: Lower baseline LDL cholesterol; Lower baseline diastolic blood pressure; Significantly higher adult fetal hemoglobin levels.
Gene function and biological role
Gene Function: The MYB gene encodes a transcription factor essential for hematopoiesis, regulating the proliferation and differentiation of erythroid progenitor cells [1]. The neighboring HBS1L gene encodes a GTPase involved in protein synthesis and cellular signaling [2]. The intergenic region between HBS1L and MYB contains critical regulatory enhancers that control the expression of these genes during red blood cell development [3]. Genetic variations in this control region alter the binding of key transcription factors, directly influencing the switch from fetal to adult hemoglobin [4].
Variant Impact: This intergenic single nucleotide polymorphism is located on chromosome 6 within the regulatory block between the HBS1L and MYB genes [3]. The genetic variation alters enhancer activity, which modulates the expression of the MYB transcription factor during red blood cell maturation [2]. Maturation pathways are shifted, leading to a higher persistence of fetal hemoglobin into adulthood [1]. Beyond blood cell development, this regulatory change is associated with systemic metabolic and cardiovascular traits, including blood pressure and cholesterol levels [5].
Key Insight: This variant acts as a genetic bridge connecting red blood cell development with systemic cardiovascular health, simultaneously influencing hemoglobin composition, blood pressure, and cholesterol levels.
Location: HBS1L. Chromosome 6 · 6q23.3 · 135.1 Mb
Estimated prevalence by population
Global 58.0%; European 54.7%; African 61.3%; East Asian 55.3%; South Asian 79.1%; Americas 67.2%; Ashkenazi 58.9%; Finnish 42.7%; Middle Eastern 62.8%; Amish 70.5%.
Estimated AA genotype frequency.
Global 36.1%; European 38.5%; African 34.0%; East Asian 38.1%; South Asian 19.7%; Americas 29.6%; Ashkenazi 35.7%; Finnish 45.3%; Middle Eastern 32.9%; Amish 26.9%.
Estimated AG genotype frequency.
Global 6.0%; European 6.8%; African 4.7%; East Asian 6.6%; South Asian 1.2%; Americas 3.3%; Ashkenazi 5.4%; Finnish 12.0%; Middle Eastern 4.3%; Amish 2.6%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 9/10. Source: PMID 28334899. Increased LDL.
Hypertension
Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Increased BP.
Blood Cell & Iron Traits
Red Cell Distribution Width. Evidence: 9/10. Source: PMID 27863252. Increased RDW.
Rare Genetic Disorders
Hemoglobinopathies
Fetal Hemoglobin. Evidence: 9/10. Source: PMID 28361591. Typical Low Levels.
Organ Systems
Liver Function & Disease
AST Liver Enzyme. Evidence: 8/10. Source: PMID 33547301. Increased AST.
Showing effects for A/G genotype
LDL Cholesterol. Evidence: 9/10. Source: PMID 28334899. Moderately Lower LDL.
Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Moderately Lower BP.
Red Cell Distribution Width. Evidence: 9/10. Source: PMID 27863252. Moderately Lower RDW.
Fetal Hemoglobin. Evidence: 9/10. Source: PMID 28361591. Moderately Higher.
AST Liver Enzyme. Evidence: 8/10. Source: PMID 33547301. Moderately Lower AST.
Showing effects for G/G genotype
LDL Cholesterol. Evidence: 9/10. Source: PMID 28334899. Lower LDL.
Blood Pressure. Evidence: 6/10. Source: PMID 33230300. Lower BP.
Red Cell Distribution Width. Evidence: 9/10. Source: PMID 27863252. Lower RDW.
Fetal Hemoglobin. Evidence: 9/10. Source: PMID 28361591. Higher Levels.
AST Liver Enzyme. Evidence: 8/10. Source: PMID 33547301. Lower AST.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Standard enhancer activity at the HBS1L-MYB locus maintains typical levels of MYB expression, resulting in the normal post-natal silencing of fetal hemoglobin [1]. Adult hemoglobin consists almost entirely of the adult form, which is standard but lacks the protective buffering capacity of fetal hemoglobin against blood disorders [2]. This genotype is associated with higher baseline levels of both LDL and total cholesterol compared to G allele carriers [3]. Diastolic blood pressure also tends to be higher, which may contribute to long-term cardiovascular risk [4]. Levels of the liver enzyme aspartate aminotransferase are typically higher, reflecting standard metabolic baselines [5]. Red cell distribution width is also higher, indicating greater variation in red blood cell size [6].
Higher baseline LDL cholesterol; Higher baseline diastolic blood pressure; Standard low adult fetal hemoglobin levels.
Sample genotype: AG (Heterozygous)
A single copy of the G allele influences the HBS1L-MYB enhancer region, resulting in moderate changes to red blood cell maturation pathways [1]. Fetal hemoglobin levels are slightly elevated compared to the typical baseline, offering mild protective benefits against hemoglobin-related conditions [2]. Cardiovascular markers are also favorably influenced, with studies showing reduced LDL and total cholesterol levels [3]. Diastolic blood pressure is moderately lower, contributing to a healthier cardiovascular profile [4]. Additionally, markers of liver stress such as aspartate aminotransferase are slightly reduced [5]. Red cell distribution width is kept within a highly favorable, uniform range [6].
Moderately lower LDL cholesterol; Moderately lower diastolic blood pressure; Slightly elevated fetal hemoglobin levels.
Sample genotype: GG (Homozygous)
Erythroid development is modified by the presence of two G alleles, which reduces the expression of the MYB transcription factor and allows fetal hemoglobin to persist into adulthood [1]. This persistence of fetal hemoglobin acts as a natural buffer that can significantly reduce the severity of sickle cell disease and beta-thalassemia [2]. Beyond red blood cells, large-scale genetic analyses associate this genotype with lower levels of LDL and total cholesterol [3]. Diastolic blood pressure is also lower in individuals with this genetic profile [4]. Furthermore, liver enzyme levels, specifically aspartate aminotransferase, tend to be lower, indicating reduced liver stress [5]. Red cell distribution width is minimized, which is a marker of uniform red blood cell size and overall cardiovascular health [6].
Lower baseline LDL cholesterol; Lower baseline diastolic blood pressure; Significantly higher adult fetal hemoglobin levels.
Variants with shared genetic architecture
rs9376090 · HBS1L Gene · Chr 6 · Blood and Heart Health
rs7775698 · HBS1L Gene · Chr 6 · Fetal Hemoglobin Levels
rs9402686 · HBS1L Gene · Chr 6 · Fetal Hemoglobin Levels
Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.
Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
The power of genetic diversity in genome-wide association studies of lipids.
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
Content updated August 2026.
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