What you carry at this position in your DNA and what research says about it.
Blood Pressure and Brain: 10/10 evidence, 16 publications.
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Sample genotype (not yours): T/T
Higher Blood Pressure and Schizophrenia Risk
Presence of two T alleles is associated with an increased risk of high blood pressure and hypertension. It also correlates with a slightly higher susceptibility to schizophrenia and other psychiatric conditions.
What this genotype means: Higher risk of hypertension; Elevated risk of schizophrenia; Slightly lower average BMI.
Sample genotype (not yours): C/C
Lower Blood Pressure and Schizophrenia Risk
Double copies of the protective C allele are associated with lower blood pressure and a reduced risk of hypertension. This genetic profile also provides significant protection against developing schizophrenia.
What this genotype means: Lower risk of hypertension; Reduced risk of schizophrenia; Slightly higher average BMI.
Sample genotype (not yours): T/C
Slightly Higher Blood Pressure and Schizophrenia Risk
A heterozygous profile results in intermediate cardiovascular and psychiatric risk. This genetic makeup balances the risk-increasing effects of the T allele with the protective effects of the C allele.
What this genotype means: Moderately elevated blood pressure; Intermediate risk of schizophrenia; Slightly higher brain iron levels.
Gene function and biological role
Gene Function: The NT5C2 gene encodes cytosolic 5'-nucleotidase II, an enzyme involved in cellular purine metabolism and energy regulation. It is highly active in brain tissues, where it is thought to influence neuronal development and protein synthesis. Variations in this gene have been robustly linked to cardiovascular measurements, including blood pressure regulation [1]. Furthermore, research has identified NT5C2 as a shared risk gene across multiple psychiatric conditions, including schizophrenia [2].
Variant Impact: The rs11191580 variant is located in the 5' untranslated region (UTR) of the NT5C2 gene, a region that regulates gene expression. This genetic change is part of a highly active genomic block on chromosome 10 that influences multiple nearby genes. Studies show that the major T allele is associated with higher expression of risk-associated gene isoforms in the brain [3]. Consequently, this variant acts as a major pleiotropic hub, simultaneously affecting cardiovascular and psychiatric phenotypes [2].
Key Insight: The same genetic letter that increases blood pressure also raises the risk of schizophrenia, showing a deep biological link between cardiovascular and brain health.
Location: NT5C2. Chromosome 10 · 10q24.33 · 103.1 Mb
Origin Story: The protective C allele is completely absent in African populations but is found in European and Asian populations. Researchers suggest that as modern humans migrated out of Africa into colder climates, this derived allele underwent positive natural selection to help adapt to the cold, which also had the beneficial side effect of lowering blood pressure.
Estimated prevalence by population
Global 84.3%; European 82.7%; African 95.8%; East Asian 52.3%; South Asian 66.6%; Americas 74.8%; Ashkenazi 86.1%; Finnish 85.6%; Middle Eastern 86.2%; Amish 96.5%.
Estimated TT genotype frequency.
Global 14.7%; European 16.4%; African 4.2%; East Asian 40.1%; South Asian 30.0%; Americas 23.4%; Ashkenazi 13.4%; Finnish 13.8%; Middle Eastern 13.3%; Amish 3.4%.
Estimated TC genotype frequency.
Global 1.0%; European 0.8%; African < 0.1%; East Asian 7.7%; South Asian 3.4%; Americas 1.8%; Ashkenazi 0.5%; Finnish 0.6%; Middle Eastern 0.5%; Amish < 0.1%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cardiovascular & Metabolic
Hypertension
Blood Pressure. Evidence: 10/10. Source: PMID 30487518. Increased.
Hypertension. Evidence: 8/10. Source: PMID 30487518. Increased Risk.
Obesity & Body Composition
Body Mass Index. Evidence: 8/10. Source: PMID 24861553. Typical.
Neurology & Mental Health
Psychotic Disorders
Schizophrenia. Evidence: 7/10. Source: PMID 21926974. Increased Risk.
Nutrition & Metabolism
Blood Chemistry & Metabolites
Brain Iron Levels. Evidence: 6/10. Source: PMID 38789058. Typical.
Showing effects for C/C genotype
Blood Pressure. Evidence: 10/10. Source: PMID 30487518. Typical.
Hypertension. Evidence: 8/10. Source: PMID 30487518. Typical Risk.
Body Mass Index. Evidence: 8/10. Source: PMID 24861553. Increased.
Schizophrenia. Evidence: 7/10. Source: PMID 21926974. Typical Risk.
Brain Iron Levels. Evidence: 6/10. Source: PMID 38789058. Increased.
Showing effects for T/C genotype
Blood Pressure. Evidence: 10/10. Source: PMID 30487518. Slightly Increased.
Hypertension. Evidence: 8/10. Source: PMID 30487518. Slightly Increased.
Body Mass Index. Evidence: 8/10. Source: PMID 24861553. Slightly Increased.
Schizophrenia. Evidence: 7/10. Source: PMID 21926974. Slightly Increased.
Brain Iron Levels. Evidence: 6/10. Source: PMID 38789058. Slightly Increased.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
This genotype is the most common globally and represents the ancestral genetic profile. Large-scale genome-wide association studies have consistently linked the T allele to elevated systolic and diastolic blood pressure [1]. Specifically, each copy of the T allele is associated with an approximate 0.97 mmHg increase in systolic blood pressure [1]. Additionally, this genotype carries a higher risk of developing hypertension, with an odds ratio of approximately 1.16 [2]. Beyond cardiovascular health, the T allele is a well-established risk factor for schizophrenia, increasing susceptibility by about 20% [3]. This pleiotropic effect suggests a shared biological pathway where NT5C2 expression impacts both vascular tone and neurodevelopment [3]. On the positive side, individuals with this genotype tend to have a lower average body mass index and lower brain iron accumulation compared to C allele carriers [4] [5].
Higher risk of hypertension; Elevated risk of schizophrenia; Slightly lower average BMI.
Sample genotype: CC (Homozygous)
This genotype is relatively rare in most populations but offers notable health advantages. Vascular health is typically improved in these carriers, who benefit from lower average systolic and diastolic blood pressure, significantly reducing their risk of hypertension [1]. This genetic protection extends to brain health, where the C allele is associated with a lower risk of schizophrenia and related psychiatric conditions [2]. The biological mechanism is thought to involve altered expression of genes in the 10q24 chromosomal region, which influences neurodevelopment and vascular function [2]. Metabolic studies also associate this genotype with a higher average body mass index compared to T/T carriers [3]. Additionally, studies have linked the C allele to increased brain iron accumulation, particularly in grey matter regions [4]. While higher brain iron is being investigated for long-term neurological impacts, the immediate cardiovascular and psychiatric benefits of this genotype are highly favorable.
Lower risk of hypertension; Reduced risk of schizophrenia; Slightly higher average BMI.
Sample genotype: TC (Heterozygous)
This heterozygous genotype represents a biological middle ground for several complex traits. A single copy of the T allele contributes to a modest increase in blood pressure and hypertension risk compared to the protective C/C genotype [1]. Similarly, the risk of schizophrenia is slightly elevated relative to those with two copies of the protective C allele, but remains lower than in T/T homozygotes [2]. This intermediate risk profile is common in many populations, particularly in East and South Asian ancestries where the C allele is more prevalent. On metabolic measures, carrying a single C allele is associated with a slight increase in average body mass index [3]. It also correlates with a minor increase in brain iron levels, which is a biomarker under active study for its role in neurodegenerative processes [4]. Overall, this genotype represents a balanced genetic influence across cardiovascular, metabolic, and neurological systems.
Moderately elevated blood pressure; Intermediate risk of schizophrenia; Slightly higher brain iron levels.
Variants with shared genetic architecture
rs10857147 · FGF5 Gene · Chr 4 · Blood Pressure
rs1133400 · INPP5A Gene · Chr 10 · Blood Pressure and Heart Health
rs11556924 · ZC3HC1 Gene · Chr 7 · Heart Disease Risk
Interethnic analyses of blood pressure loci in populations of East Asian and European descent.
Content updated August 2026.
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