What you carry at this position in your DNA and what research says about it.
Heart and Bone Health: 9/10 evidence, 49 publications.
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Sample genotype (not yours): G/G
Optimal Cardiovascular and Bone Health Profile
Inheriting two copies of the G allele is associated with lower blood pressure, reduced heart disease risk, and stronger bones. This profile is driven by highly efficient fat desaturation in adipose tissue.
What this genotype means: Lower risk of coronary artery disease; Lower average blood pressure; Higher bone mineral density.
Sample genotype (not yours): A/A
Elevated Cardiovascular Risk and Typical Bone Density
Inheriting two copies of the A allele is linked to higher blood pressure and an increased risk of heart disease. This genotype lacks the bone-strengthening and lipid-balancing benefits of the G allele.
What this genotype means: Increased risk of coronary artery disease; Higher average blood pressure; Typical baseline bone mineral density.
Sample genotype (not yours): G/A
Balanced Profile with Mixed Cardiovascular and Bone Effects
Inheriting one copy of each allele results in a balanced genetic profile. While the G allele supports bone density and healthy fats, the A allele slightly elevates blood pressure and heart risk.
What this genotype means: Slightly elevated blood pressure; Moderate risk of coronary artery disease; Maintained bone mineral density benefits.
Gene function and biological role
Gene Function: The PKD2L1 gene encodes a calcium-permeable cation channel belonging to the polycystin family of transient receptor potential channels. This protein is involved in sensing chemical changes and regulating calcium signaling across cell membranes. Research indicates that genetic variation near this gene influences the expression of stearoyl-CoA desaturase, a key enzyme in adipose tissue responsible for converting saturated fatty acids into monounsaturated fatty acids [1]. Through this metabolic pathway, the gene plays an important role in lipid remodeling, fat distribution, and systemic energy balance [2]. Consequently, variations in this region have wide-ranging effects on cardiovascular risk factors and skeletal integrity [3].
Variant Impact: The rs603424 variant is an intronic change located within the PKD2L1 gene on chromosome 10. This specific genetic marker acts as a strong regulator of lipid metabolism by modulating the desaturation of fatty acids in fat tissue [4]. The G allele of this variant is robustly linked to higher levels of beneficial monounsaturated fatty acids, such as palmitoleic acid, and a lower ratio of saturated fats [5]. Conversely, the A allele is associated with less efficient lipid desaturation, leading to unfavorable changes in circulating fats and blood cell traits [6]. These downstream metabolic alterations directly influence long-term cardiovascular and bone health outcomes [3].
Key Insight: This single genetic marker acts as a metabolic bridge connecting how your body processes dietary fats directly to your blood pressure and bone strength.
Location: PKD2L1. Chromosome 10 · 10q24.31 · 100.3 Mb
Estimated prevalence by population
Global 49.9%; European 66.2%; African 10.7%; East Asian 86.5%; South Asian 30.0%; Americas 60.2%; Ashkenazi 43.8%; Finnish 78.6%; Middle Eastern 23.3%; Amish 48.7%.
Estimated GG genotype frequency.
Global 34.3%; European 30.3%; African 44.0%; East Asian 13.1%; South Asian 49.5%; Americas 34.8%; Ashkenazi 44.8%; Finnish 20.1%; Middle Eastern 49.9%; Amish 42.2%.
Estimated GA genotype frequency.
Global 15.8%; European 3.5%; African 45.4%; East Asian 0.5%; South Asian 20.4%; Americas 5.0%; Ashkenazi 11.4%; Finnish 1.3%; Middle Eastern 26.7%; Amish 9.1%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 8/10. Source: PMID 36474045. Lower Risk.
Hypertension
Blood Pressure. Evidence: 8/10. Source: PMID 38689001. Lower Pressure.
Blood Cell & Iron Traits
Red Cell Distribution Width. Evidence: 9/10. Source: PMID 32888494. Lower Width.
Organ Systems
Bone, Joint & Connective Tissue Health
Bone Mineral Density. Evidence: 8/10. Source: PMID 30048462. Higher Density.
Nutrition & Metabolism
Macronutrient Metabolism
Monounsaturated Fats. Evidence: 6/10. Source: PMID 28298293. Higher Levels.
Showing effects for A/A genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 36474045. Higher Risk.
Blood Pressure. Evidence: 8/10. Source: PMID 38689001. Higher Pressure.
Red Cell Distribution Width. Evidence: 9/10. Source: PMID 32888494. Higher Width.
Bone Mineral Density. Evidence: 8/10. Source: PMID 30048462. Typical Density.
Monounsaturated Fats. Evidence: 6/10. Source: PMID 28298293. Typical Levels.
Showing effects for G/A genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 36474045. Increased Risk.
Blood Pressure. Evidence: 8/10. Source: PMID 38689001. Slightly Elevated.
Red Cell Distribution Width. Evidence: 9/10. Source: PMID 32888494. Slightly Higher.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele provides a highly favorable metabolic profile. Large-scale genetic studies show a robust association with lower systolic and diastolic blood pressure [1]. This protective cardiovascular effect is further highlighted by a significantly reduced risk of developing coronary artery disease [2]. On a cellular level, this genotype promotes efficient lipid remodeling, resulting in higher levels of beneficial monounsaturated fatty acids like palmitoleic acid [3]. Additionally, the G allele is strongly linked to increased heel bone mineral density, offering natural protection against age-related bone loss [4]. Blood cell measurements also show a lower red cell distribution width, which is a marker of healthy cardiovascular aging [5].
Lower risk of coronary artery disease; Lower average blood pressure; Higher bone mineral density.
Sample genotype: AA (Homozygous)
Carrying two copies of the A allele is associated with several elevated cardiovascular risk factors. Clinical data links this genotype to higher average systolic and diastolic blood pressure [1]. There is also a well-documented increase in the risk of coronary artery disease, making cardiovascular wellness a key area of focus [2]. This risk is partially explained by a less favorable circulating fatty acid profile, characterized by lower levels of protective monounsaturated fats [3]. Furthermore, this genotype lacks the genetic boost to bone mineral density provided by the G allele, resulting in a typical baseline for bone strength [4]. Blood analyses also show a higher red cell distribution width, which can be an early indicator of systemic inflammation or cardiovascular stress [5].
Increased risk of coronary artery disease; Higher average blood pressure; Typical baseline bone mineral density.
Sample genotype: GA (Heterozygous)
Carrying one G allele and one A allele presents a classic genetic trade-off across multiple physiological systems. The presence of the G allele helps maintain higher bone mineral density, offering support for skeletal strength [1]. It also promotes the synthesis of beneficial monounsaturated fatty acids, which helps balance the overall lipid profile [2]. However, the presence of the A allele introduces a slight elevation in both systolic and diastolic blood pressure [3]. This allele is also associated with a modest increase in the lifetime risk of coronary artery disease compared to the protective double-G genotype [4]. Blood cell traits, such as red cell distribution width, tend to fall into an intermediate range [5].
Slightly elevated blood pressure; Moderate risk of coronary artery disease; Maintained bone mineral density benefits.
Variants with shared genetic architecture
rs11222084 · ZBTB44-DT Gene · Chr 11 · Blood Pressure Profile
rs1133400 · INPP5A Gene · Chr 10 · Blood Pressure and Heart Health
rs11556924 · ZC3HC1 Gene · Chr 7 · Heart Disease Risk
Rare and common genetic determinants of metabolic individuality and their effects on human health.
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
Content updated August 2026.
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