What you carry at this position in your DNA and what research says about it.
Blood Pressure: 10/10 evidence, 20 publications.
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Sample genotype (not yours): G/G
Slightly Higher Blood Pressure
Vascular regulation and body composition are slightly altered with this genotype. Research links these genetic copies to a modest increase in both systolic and diastolic blood pressure.
What this genotype means: Slightly higher systolic and diastolic blood pressure; Modestly increased body fat percentage; Slightly lower risk of glaucoma and cataracts.
Sample genotype (not yours): C/C
Slightly Lower Blood Pressure
Vascular efficiency is slightly enhanced, leading to a modest reduction in blood pressure. This genotype is also associated with a slightly lower body fat percentage.
What this genotype means: Slightly lower systolic and diastolic blood pressure; Modestly lower body fat percentage; Slightly higher risk of glaucoma and cataracts.
Sample genotype (not yours): G/C
Typical Blood Pressure
Balanced genetic influences result in typical blood pressure and average body fat levels. Most cardiovascular and metabolic markers remain close to population averages.
What this genotype means: Typical blood pressure readings; Average body fat percentage; Standard risk profile for glaucoma and cataracts.
Gene function and biological role
Gene Function: The PLCE1 gene encodes phospholipase C epsilon 1, an enzyme that plays a critical role in cell growth, differentiation, and signaling pathways [1]. It is highly expressed in various tissues, including the kidneys and the gastrointestinal tract, where it helps regulate cellular responses [1]. Variations in this gene can alter enzyme activity, potentially influencing susceptibility to certain cancers and kidney conditions [1] [2]. Specifically, researchers have studied its involvement in the development of esophageal and gastric cancers [1].
Variant Impact: The rs2274224 variant represents a missense change in the PLCE1 gene, resulting in the substitution of the amino acid arginine with proline at position 1575 of the protein. This structural alteration is located in a functional region of the phospholipase C epsilon 1 enzyme. Studies suggest this change may influence cellular signaling cascades involved in vascular tone and tissue growth [1]. While some rare mutations in this gene cause severe kidney disorders, clinical databases classify this specific common variant as completely harmless for nephrotic syndrome and glomerulosclerosis.
Key Insight: While this variant is linked to slightly higher blood pressure, it actually lowers the risk of developing glaucoma and cataracts.
Location: PLCE1. Chromosome 10 · 10q23.33 · 94.3 Mb
Estimated prevalence by population
Global 28.9%; European 30.9%; African 20.4%; East Asian 22.2%; South Asian 32.1%; Americas 36.5%; Ashkenazi 19.5%; Finnish 44.8%; Middle Eastern 14.5%; Amish 30.9%.
Estimated GG genotype frequency.
Global 48.9%; European 49.4%; African 49.5%; East Asian 49.8%; South Asian 49.1%; Americas 47.8%; Ashkenazi 49.3%; Finnish 44.3%; Middle Eastern 47.2%; Amish 49.4%.
Estimated GC genotype frequency.
Global 22.2%; European 19.7%; African 30.1%; East Asian 27.9%; South Asian 18.7%; Americas 15.7%; Ashkenazi 31.1%; Finnish 10.9%; Middle Eastern 38.3%; Amish 19.7%.
Estimated CC genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Hypertension
Blood Pressure. Evidence: 10/10. Source: PMID 38689001. Slightly Higher.
Obesity & Body Composition
Body Fat Percentage. Evidence: 9/10. Source: PMID 30593698. Slightly Higher.
Organ Systems
Vision & Eye Health
Glaucoma. Evidence: 8/10. Source: PMID 31959993. Slightly Lower.
Cataract. Evidence: 8/10. Source: PMID 34127677. Slightly Lower.
Cancer & Oncology
Gastrointestinal Cancers
Esophageal Cancer. Evidence: 4/10. Source: PMID 23688607. Increased Risk.
Showing effects for C/C genotype
Blood Pressure. Evidence: 10/10. Source: PMID 38689001. Slightly Lower.
Body Fat Percentage. Evidence: 9/10. Source: PMID 30593698. Slightly Lower.
Glaucoma. Evidence: 8/10. Source: PMID 31959993. Slightly Higher.
Cataract. Evidence: 8/10. Source: PMID 34127677. Slightly Higher.
Esophageal Cancer. Evidence: 4/10. Source: PMID 23688607. Decreased Risk.
Showing effects for G/C genotype
Blood Pressure. Evidence: 10/10. Source: PMID 38689001. Typical.
Body Fat Percentage. Evidence: 9/10. Source: PMID 30593698. Typical.
Glaucoma. Evidence: 8/10. Source: PMID 31959993. Typical.
Cataract. Evidence: 8/10. Source: PMID 34127677. Typical.
Esophageal Cancer. Evidence: 4/10. Source: PMID 23688607. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Vascular tone and fluid balance are influenced by the phospholipase C epsilon 1 enzyme, and this genotype is associated with a slight upward pressure on systemic blood pressure [1]. Large-scale genomic analyses of over one million individuals confirm that this genetic profile modestly increases both systolic and diastolic blood pressure [1]. Additionally, metabolic studies link this variation to a slightly higher body fat percentage [2] and elevated serum calcium levels [3]. In terms of digestive health, research in Asian populations suggests this profile carries a slightly higher risk of developing esophageal squamous cell carcinoma [4]. However, this genetic makeup offers a protective benefit against certain age-related eye conditions, showing a lower risk of developing glaucoma [5] and cataracts [6].
Slightly higher systolic and diastolic blood pressure; Modestly increased body fat percentage; Slightly lower risk of glaucoma and cataracts.
Sample genotype: CC (Homozygous)
Vascular resistance is slightly reduced with this genetic profile, contributing to lower overall blood pressure. Large-scale genetic studies show a consistent association with lower systolic and diastolic blood pressure readings [1]. Metabolic assessments also indicate a correlation with a slightly lower body fat percentage [2] and lower serum calcium levels [3]. Furthermore, oncological research suggests this profile is linked to a reduced risk of esophageal squamous cell carcinoma [4]. However, these cellular changes may slightly increase susceptibility to certain eye conditions, resulting in a modest rise in the risk of glaucoma [5] and cataracts [6].
Slightly lower systolic and diastolic blood pressure; Modestly lower body fat percentage; Slightly higher risk of glaucoma and cataracts.
Sample genotype: GC (Heterozygous)
Cardiovascular and metabolic traits generally align with typical population baselines with this heterozygous profile. Having one copy of each allele balances the genetic influences on vascular tone and cellular signaling [1]. Blood pressure measurements, including systolic and diastolic readings, typically remain within the normal range [1]. Similarly, body fat percentage and serum calcium levels show no significant genetic deviation from the average [2] [3]. While there is a moderate risk profile for esophageal cancer, it does not reach the elevated levels seen in other genotypes [4]. Eye health markers, including the risks for glaucoma and cataracts, also remain at baseline levels [5] [6].
Typical blood pressure readings; Average body fat percentage; Standard risk profile for glaucoma and cataracts.
Variants with shared genetic architecture
rs3765524 · PLCE1 Gene · Chr 10 · Gastrointestinal Cancer Risk
rs11187838 · PLCE1 Gene · Chr 10 · Cardiovascular Risk
rs2274223 · PLCE1 Gene · Chr 10 · Digestive Cancer Risk
Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.
Content updated August 2026.
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