What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 4/10 evidence, 37 publications.
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Sample genotype (not yours): T/T
Typical Heart Disease Risk
Standard baseline levels of glycine and typical cardiovascular risk characterize this common genetic profile. It is associated with slightly higher levels of fibrinogen and uric acid.
What this genotype means: Typical blood glycine levels; Slightly higher baseline fibrinogen.
Sample genotype (not yours): C/C
Lowest Heart Disease Risk
Maximizing blood glycine levels provides the strongest genetic protection against heart disease under this profile. It is highly favorable for cardiovascular and metabolic health.
What this genotype means: Highest blood glycine levels; Strongest protection against coronary artery disease.
Sample genotype (not yours): T/C
Lower Heart Disease Risk
Elevated blood glycine levels and a reduced risk of heart disease are associated with this heterozygous profile. It offers a natural metabolic advantage, particularly for women.
What this genotype means: Elevated blood glycine levels; Reduced risk of coronary artery disease.
Gene function and biological role
Gene Function: The CPS1 gene encodes carbamoyl-phosphate synthase 1, a critical mitochondrial enzyme that catalyzes the first and rate-limiting step of the urea cycle [1]. This essential metabolic pathway is primarily responsible for detoxifying ammonia, a harmful byproduct of protein breakdown, by converting it into urea for excretion [1]. When the urea cycle is impaired, ammonia can accumulate in the bloodstream and cause severe neurological issues [2]. Beyond ammonia clearance, CPS1 activity indirectly influences the systemic availability of several key amino acids, including glycine and arginine [3]. Consequently, genetic variations in this gene can alter overall metabolic balance and cardiovascular dynamics [4].
Variant Impact: The rs715 variant is a single nucleotide change located in the 3 prime untranslated region of the CPS1 gene. This specific genetic change does not alter the amino acid sequence of the enzyme but instead influences gene expression and mRNA stability. It is in strong genetic linkage with the functional Thr1405Asn missense variant, which directly reduces CPS1 enzyme activity by approximately 30 to 40 percent [2]. This reduction in urea cycle throughput leads to a downstream accumulation of glycine, making rs715 one of the strongest known genetic regulators of blood glycine levels [2]. Interestingly, this metabolic shift is also associated with a significant reduction in coronary artery disease risk, particularly in women [3].
Key Insight: The rs715 variant is one of the single strongest genetic determinants of blood glycine levels, explaining up to 10 percent of its variation.
Location: CPS1. Chromosome 2 · 2q34 · 210.7 Mb
Estimated prevalence by population
Global 52.2%; European 47.1%; African 63.1%; East Asian 68.1%; South Asian 49.3%; Americas 49.7%; Ashkenazi 45.8%; Finnish 42.9%; Middle Eastern 53.0%; Amish 43.3%.
Estimated TT genotype frequency.
Global 39.7%; European 43.1%; African 32.7%; East Asian 28.9%; South Asian 41.8%; Americas 41.6%; Ashkenazi 43.8%; Finnish 45.2%; Middle Eastern 39.6%; Amish 45.0%.
Estimated TC genotype frequency.
Global 8.1%; European 9.8%; African 4.2%; East Asian 3.1%; South Asian 8.9%; Americas 8.7%; Ashkenazi 10.5%; Finnish 11.9%; Middle Eastern 7.4%; Amish 11.7%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cardiovascular & Metabolic
Heart Disease
Heart Disease. Evidence: 4/10. Source: PMID 26822151. Typical Risk.
Coagulation & Clotting
Fibrinogen Levels. Evidence: 8/10. Source: PMID 23969696. Increased.
Gout & Uric Acid
Uric Acid Levels. Evidence: 8/10. Source: PMID 30993211. Increased.
Obesity & Body Composition
Body Mass Index. Evidence: 9/10. Source: PMID 25673413. Typical.
Nutrition & Metabolism
Blood Chemistry & Metabolites
Glycine Levels. Evidence: 9/10. Source: PMID 24816252. Typical.
Organ Systems
Bone, Joint & Connective Tissue Health
Osteoarthritis. Evidence: 8/10. Source: PMID 36889626. Typical Risk.
Showing effects for C/C genotype
Heart Disease. Evidence: 4/10. Source: PMID 26822151. Lowest Risk.
Fibrinogen Levels. Evidence: 8/10. Source: PMID 23969696. Lower.
Uric Acid Levels. Evidence: 8/10. Source: PMID 30993211. Lower.
Body Mass Index. Evidence: 9/10. Source: PMID 25673413. Slightly Higher.
Glycine Levels. Evidence: 9/10. Source: PMID 24816252. Significantly Higher.
Osteoarthritis. Evidence: 8/10. Source: PMID 36889626. Slightly Higher.
Showing effects for T/C genotype
Heart Disease. Evidence: 4/10. Source: PMID 26822151. Lower Risk.
Fibrinogen Levels. Evidence: 8/10. Source: PMID 23969696. Typical.
Uric Acid Levels. Evidence: 8/10. Source: PMID 30993211. Typical.
Glycine Levels. Evidence: 9/10. Source: PMID 24816252. Increased.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
The presence of two T alleles represents the most common genetic configuration globally. This baseline profile is associated with typical urea cycle efficiency and standard blood glycine levels [1]. Because glycine has natural anti-inflammatory and cytoprotective properties, having typical rather than elevated levels means missing out on some genetic cardiovascular protection [2]. Additionally, this genotype is linked to slightly higher circulating levels of fibrinogen, a key blood-clotting protein, and uric acid [3]. While these slight elevations are within normal physiological ranges, they contribute to a standard baseline risk for cardiovascular events [4]. No specific dietary changes are required, but maintaining a heart-healthy lifestyle is always beneficial.
Typical blood glycine levels; Slightly higher baseline fibrinogen.
Sample genotype: CC (Homozygous)
Two copies of the C allele result in the highest circulating glycine levels among all genotypes, explaining up to ten percent of the variation in this amino acid [1]. This dramatic increase in glycine provides robust antioxidant and anti-inflammatory support to the blood vessels [2]. As a result, this genotype is strongly linked to a reduced risk of coronary artery disease, with the most pronounced protective effects observed in women [2]. Furthermore, this profile is associated with lower levels of fibrinogen and uric acid, reducing the risk of unwanted blood clots and gout [3]. Although studies note a tiny statistical increase in body mass index and osteoarthritis risk, these effects are minor compared to the substantial cardiovascular benefits [4].
Highest blood glycine levels; Strongest protection against coronary artery disease.
Sample genotype: TC (Heterozygous)
A single copy of the C allele introduces a mild reduction in CPS1 enzyme activity, which paradoxically benefits cardiovascular health. This enzymatic shift leads to a significant increase in circulating glycine levels, a protective amino acid [1]. Higher glycine levels are associated with improved vascular function and reduced inflammation [2]. Consequently, individuals with this genotype, especially women, exhibit a lower risk of developing coronary artery disease [2]. There is also a slight reduction in circulating fibrinogen and uric acid levels, which further supports cardiovascular wellness [3]. While there is a very minor association with slightly higher body mass index and osteoarthritis risk, the overall health profile remains highly favorable.
Elevated blood glycine levels; Reduced risk of coronary artery disease.
Variants with shared genetic architecture
rs1047891 · CPS1 Gene · Chr 2 · Urea Cycle and Kidney Health
rs514230 · LINC01132 Gene · Chr 1 · Cholesterol Levels
rs613808 · APOA1-AS Gene · Chr 11 · HDL Cholesterol Levels
An atlas of genetic influences on human blood metabolites.
Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses.
A cross-platform approach identifies genetic regulators of human metabolism and health.
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.
Content updated August 2026.
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