What you carry at this position in your DNA and what research says about it.
Blood Pressure Risk: 10/10 evidence, 31 publications.
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Sample genotype (not yours): T/T
Typical Risk of High Blood Pressure
Carrying two copies of the T allele is associated with lower average blood pressure levels. This genotype provides a protective effect against hypertension and related heart conditions.
What this genotype means: Lower average blood pressure; Reduced risk of hypertension; Slightly higher LDL cholesterol.
Sample genotype (not yours): C/C
Higher Risk of High Blood Pressure
Carrying two copies of the C allele is linked to elevated systolic and diastolic blood pressure. This genotype also increases the likelihood of developing hypertension and related cardiovascular conditions like atrial fibrillation.
What this genotype means: Elevated systolic and diastolic blood pressure; Higher risk of hypertension; Increased risk of atrial fibrillation.
Sample genotype (not yours): T/C
Moderately Increased Risk of High Blood Pressure
Carrying one copy of the C allele is associated with a moderate increase in blood pressure levels. This intermediate profile slightly elevates the risk of hypertension compared to the typical baseline.
What this genotype means: Slightly elevated blood pressure; Moderate risk of hypertension; Balanced lipid profile.
Gene function and biological role
Gene Function: The CASZ1 gene encodes castor zinc finger 1, a transcription factor that plays a critical role in blood vessel patterning and cardiac development [1]. It is highly expressed in cardiovascular tissues and the kidneys, where it helps regulate endothelial cell behavior and cardiomyocyte differentiation [1]. Research indicates that CASZ1 also acts as a transcriptional repressor of aldosterone synthesis, a hormone essential for maintaining salt and water balance [2]. Consequently, variations in this gene can significantly impact systemic blood pressure regulation and overall heart health [1] [2].
Variant Impact: The rs880315 variant is located within an intron of the CASZ1 gene on chromosome 1 [3]. Although it does not alter the amino acid sequence of the protein, this genetic change is thought to influence gene expression or methylation patterns [1]. Specifically, the C allele is associated with hypomethylation at nearby genomic sites, which may alter how the gene is regulated under physiological stress [1]. This regulatory shift is strongly linked to variations in both systolic and diastolic blood pressure across diverse global populations [3] [4].
Key Insight: The C allele of this variant not only raises blood pressure but is also linked to an increased risk of developing benign adrenal tumors that overproduce aldosterone, further driving hypertension.
Location: CASZ1. Chromosome 1 · 1p36.22 · 10.7 Mb
Estimated prevalence by population
Global 46.0%; European 41.8%; African 66.3%; East Asian 14.8%; South Asian 35.8%; Americas 29.0%; Ashkenazi 55.7%; Finnish 34.3%; Middle Eastern 41.8%; Amish 47.9%.
Estimated TT genotype frequency.
Global 42.0%; European 45.7%; African 30.2%; East Asian 47.3%; South Asian 48.1%; Americas 49.7%; Ashkenazi 37.9%; Finnish 48.5%; Middle Eastern 45.7%; Amish 42.6%.
Estimated TC genotype frequency.
Global 12.1%; European 12.5%; African 3.4%; East Asian 37.9%; South Asian 16.1%; Americas 21.3%; Ashkenazi 6.4%; Finnish 17.2%; Middle Eastern 12.5%; Amish 9.5%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cardiovascular & Metabolic
Hypertension
Hypertension. Evidence: 10/10. Source: PMID 25249183. Lower Risk.
Heart Rhythm & Conduction
Atrial Fibrillation. Evidence: 8/10. Source: PMID 29892015. Typical Risk.
Lipids & Cholesterol
LDL Cholesterol. Evidence: 8/10. Source: PMID 32203549. Slightly Higher.
Cancer & Oncology
Thyroid & Endocrine Cancers
Adrenal Tumor. Evidence: 4/10. Source: PMID 36057693. Typical Risk.
Showing effects for C/C genotype
Hypertension. Evidence: 10/10. Source: PMID 25249183. Increased Risk.
Atrial Fibrillation. Evidence: 8/10. Source: PMID 29892015. Increased Risk.
LDL Cholesterol. Evidence: 8/10. Source: PMID 32203549. Slightly Lower.
Adrenal Tumor. Evidence: 4/10. Source: PMID 36057693. Increased Risk.
Showing effects for T/C genotype
Hypertension. Evidence: 10/10. Source: PMID 25249183. Slightly Increased.
Atrial Fibrillation. Evidence: 8/10. Source: PMID 29892015. Slightly Increased.
LDL Cholesterol. Evidence: 8/10. Source: PMID 32203549. Typical.
Adrenal Tumor. Evidence: 4/10. Source: PMID 36057693. Slightly Increased.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Possessing two copies of the T allele is linked to lower systolic and diastolic blood pressure levels across multiple ancestry groups. This genetic profile is associated with a reduced risk of developing hypertension and a lower likelihood of requiring blood pressure-lowering medications. The protective nature of this genotype also extends to a lower risk of atrial fibrillation and aldosterone-producing adrenal tumors. However, this genotype is associated with slightly higher levels of LDL and total cholesterol compared to carriers of the C allele. Despite the minor increase in cholesterol, the overall cardiovascular risk profile is generally favorable due to the strong protective effect on blood pressure. Maintaining a heart-healthy lifestyle further solidifies these natural genetic advantages.
Lower average blood pressure; Reduced risk of hypertension; Slightly higher LDL cholesterol.
Sample genotype: CC (Homozygous)
Inheriting two copies of the C allele at this locus is consistently associated with higher systemic blood pressure measurements in large-scale genetic studies. This elevation in blood pressure translates to a significantly higher risk of developing clinical hypertension. Furthermore, this genotype is linked to an increased susceptibility to atrial fibrillation, a common heart rhythm disorder. Research also indicates a higher risk of developing aldosterone-producing adenomas, which are benign adrenal tumors that cause secondary hypertension. Individuals with this genotype are more likely to require multiple antihypertensive medications or experience treatment-resistant hypertension. Conversely, this genetic profile is associated with slightly lower levels of LDL and total cholesterol. Managing cardiovascular health through routine blood pressure monitoring and lifestyle modifications remains highly relevant for this group.
Elevated systolic and diastolic blood pressure; Higher risk of hypertension; Increased risk of atrial fibrillation; Slightly lower LDL cholesterol.
Sample genotype: TC (Heterozygous)
Having one copy of the C allele and one copy of the T allele represents an intermediate genetic profile for blood pressure regulation. Individuals with this genotype typically exhibit blood pressure measurements that fall between the lower-risk T/T genotype and the higher-risk C/C genotype. The presence of the C allele gently nudges the risk of developing hypertension upward. It also carries a slightly elevated risk for atrial fibrillation compared to those with two copies of the protective T allele. While the risk is not as pronounced as in the double-copy C/C group, proactive cardiovascular care is still beneficial. Interestingly, this genotype maintains a relatively balanced lipid profile, showing only minor variations in LDL cholesterol. Regular wellness checks and standard cardiovascular screening can help manage these subtle genetic influences effectively.
Slightly elevated blood pressure; Moderate risk of hypertension; Balanced lipid profile.
Variants with shared genetic architecture
rs12046278 · CASZ1 Gene · Chr 1 · Blood Pressure
rs11977526 · TNS3 Gene · Chr 7 · Blood Pressure Regulation
rs1173771 · NPR3 Gene · Chr 5 · Blood Pressure Risk
Identification of risk loci for primary aldosteronism in genome-wide association studies.
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
Content updated August 2026.
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