What you carry at this position in your DNA and what research says about it.
Blood Pressure: 8/10 evidence, 22 publications.
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Sample genotype (not yours): A/A
Typical Blood Pressure and Hypertension Risk
Typical blood pressure levels and standard risk for hypertension are associated with the A/A profile. This genetic makeup lacks the protective cardiovascular benefits seen in carriers of the G allele.
What this genotype means: Typical baseline blood pressure; Standard risk of hypertension; Standard risk of preeclampsia during pregnancy.
Sample genotype (not yours): A/G
Slightly Lower Blood Pressure and Hypertension Risk
Slightly lower blood pressure and a reduced risk of developing hypertension are associated with the A/G profile. This genetic makeup also offers moderate protection against pregnancy-related preeclampsia.
What this genotype means: Slightly lower average blood pressure; Reduced risk of hypertension; Lower risk of preeclampsia during pregnancy.
Sample genotype (not yours): G/G
Lower Blood Pressure and Reduced Hypertension Risk
Significantly lower blood pressure and a reduced risk of hypertension are associated with the G/G profile. This genetic makeup also provides strong protection against preeclampsia during pregnancy.
What this genotype means: Significantly lower average blood pressure; Reduced risk of hypertension; Strong protection against preeclampsia during pregnancy.
Gene function and biological role
Gene Function: The MTHFR gene encodes methylenetetrahydrofolate reductase, an enzyme essential for folate metabolism and the conversion of homocysteine to methionine. Proper folate processing is vital for maintaining healthy blood vessels and cardiovascular function [1]. While some MTHFR variants are known for reducing enzyme activity, others influence systemic vascular health. This gene is heavily studied for its role in cardiovascular disease, pregnancy complications, and blood pressure regulation.
Variant Impact: Located within an intron of the MTHFR gene, rs17367504 is a single nucleotide change that influences blood pressure and cardiovascular traits [2]. Unlike other MTHFR variants that impair enzyme function, the minor G allele at this position is associated with protective cardiovascular effects [3]. It is linked to lower systolic and diastolic blood pressure, as well as reduced odds of developing hypertension. This variant also plays a role in pregnancy, where the protective allele reduces the risk of preeclampsia [4].
Key Insight: Unlike other well-known MTHFR variants that can increase cardiovascular risk, the minor G allele of rs17367504 actually protects against high blood pressure and preeclampsia.
Location: MTHFR. Chromosome 1 · 1p36.22 · 11.8 Mb
Estimated prevalence by population
Global 74.7%; European 71.4%; African 79.0%; East Asian 76.6%; South Asian 64.3%; Americas 80.0%; Ashkenazi 83.6%; Finnish 70.9%; Middle Eastern 76.4%; Amish 83.8%.
Estimated AA genotype frequency.
Global 23.4%; European 26.2%; African 19.8%; East Asian 21.9%; South Asian 31.7%; Americas 18.9%; Ashkenazi 15.7%; Finnish 26.6%; Middle Eastern 22.0%; Amish 15.5%.
Estimated AG genotype frequency.
Global 1.9%; European 2.4%; African 1.2%; East Asian 1.6%; South Asian 3.9%; Americas 1.1%; Ashkenazi 0.7%; Finnish 2.5%; Middle Eastern 1.6%; Amish 0.7%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Hypertension
Systolic Blood Pressure. Evidence: 8/10. Source: PMID 19430483. Higher.
Diastolic Blood Pressure. Evidence: 8/10. Source: PMID 27841878. Higher.
Hypertension. Evidence: 8/10. Source: PMID 31879980. Typical Risk.
Blood Cell & Iron Traits
Mean Platelet Volume. Evidence: 6/10. Source: PMID 32888493. Typical.
Endocrine & Reproductive
Pregnancy & Birth Complications
Preeclampsia. Evidence: 6/10. Source: PMID 37248299. Typical Risk.
Showing effects for A/G genotype
Systolic Blood Pressure. Evidence: 8/10. Source: PMID 19430483. Slightly Lower.
Diastolic Blood Pressure. Evidence: 8/10. Source: PMID 27841878. Slightly Lower.
Hypertension. Evidence: 8/10. Source: PMID 31879980. Reduced Risk.
Mean Platelet Volume. Evidence: 6/10. Source: PMID 32888493. Slightly Higher.
Preeclampsia. Evidence: 6/10. Source: PMID 37248299. Reduced Risk.
Showing effects for G/G genotype
Systolic Blood Pressure. Evidence: 8/10. Source: PMID 19430483. Lower.
Diastolic Blood Pressure. Evidence: 8/10. Source: PMID 27841878. Lower.
Hypertension. Evidence: 8/10. Source: PMID 31879980. Significantly Lower.
Mean Platelet Volume. Evidence: 6/10. Source: PMID 32888493. Higher.
Preeclampsia. Evidence: 6/10. Source: PMID 37248299. Significantly Lower.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Representing the most common genetic profile globally, about 86% of the population carries two copies of the A allele. Large-scale genome-wide association studies have consistently linked the A allele to higher systolic and diastolic blood pressure compared to the G allele [1]. Because this profile lacks the protective G allele, standard baseline risk for developing essential hypertension is expected [2]. Furthermore, during pregnancy, carrying two copies of the A allele is associated with a typical baseline risk for preeclampsia, a serious hypertensive disorder [3]. Maintaining a healthy lifestyle, including a balanced diet and regular exercise, remains key for managing blood pressure with this genetic profile.
Typical baseline blood pressure; Standard risk of hypertension; Standard risk of preeclampsia during pregnancy.
Sample genotype: AG (Heterozygous)
A moderate protective effect against cardiovascular and hypertensive conditions is associated with this heterozygous profile. Research indicates that each copy of the G allele reduces the odds of developing high blood pressure by approximately 11% [1]. This protective effect is reflected in lower average measurements for both systolic and diastolic blood pressure [2]. Additionally, during pregnancy, carrying one G allele is associated with a reduced risk of preeclampsia, helping to support healthier vascular function [3]. While this genetic profile is beneficial, lifestyle factors such as diet and exercise still play a major role in overall cardiovascular health.
Slightly lower average blood pressure; Reduced risk of hypertension; Lower risk of preeclampsia during pregnancy.
Sample genotype: GG (Homozygous)
Relatively rare in the global population, carrying two copies of the G allele offers the strongest protective effect against high blood pressure. Average systolic and diastolic blood pressure measurements are significantly lower in those with this genetic profile [1]. This genetic makeup is associated with a substantial reduction in the risk of developing essential hypertension [2]. Furthermore, the G/G profile is highly protective against preeclampsia, a serious condition characterized by sudden-onset high blood pressure during pregnancy [3]. These findings suggest that the G allele enhances vascular health and blood pressure regulation, though maintaining healthy lifestyle habits remains important.
Significantly lower average blood pressure; Reduced risk of hypertension; Strong protection against preeclampsia during pregnancy.
Variants with shared genetic architecture
rs1801133 · MTHFR Gene · Chr 1 · Folate Processing
rs1801131 · MTHFR Gene · Chr 1 · Folate Metabolism
rs2274976 · MTHFR Gene · Chr 1 · Cleft Lip Risk
Genome-wide association study identifies eight loci associated with blood pressure.
Content updated August 2026.
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