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rs11191548 (CNNM2)

What you carry at this position in your DNA and what research says about it.

Hypertension Risk: 8/10 evidence, 22 publications.

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Sample genotype (not yours): T/T

Higher Risk of Hypertension

Carrying two copies of the T allele is associated with elevated systolic and diastolic blood pressure. This genotype is linked to a higher overall risk of developing hypertension and gout.

What this genotype means: Elevated systolic and diastolic blood pressure; Increased risk of clinical hypertension; Higher likelihood of requiring blood pressure medication.

Sample genotype (not yours): C/C

Typical Blood Pressure and Lower Hypertension Risk

Carrying two copies of the C allele is associated with lower blood pressure. This genotype provides natural protection against developing hypertension and gout.

What this genotype means: Lower average systolic and diastolic blood pressure; Reduced risk of developing hypertension; Lower susceptibility to gout.

Sample genotype (not yours): T/C

Slightly Elevated Hypertension Risk

Carrying one copy of the T allele is associated with a mild increase in blood pressure. This intermediate genotype presents a slightly higher risk of hypertension compared to the protective genotype.

What this genotype means: Slightly elevated blood pressure levels; Moderate increase in hypertension susceptibility; Slightly higher risk of gout.

About CNNM2

Gene function and biological role

Gene Function: The CNNM2 gene encodes a protein that plays a critical role in transporting divalent metal cations, particularly magnesium, across cell membranes [1]. Magnesium is a vital mineral that helps regulate vascular tone, endothelial function, and blood pressure [1]. This gene is located in a dense genomic region on chromosome 10 that also encompasses CYP17A1, a gene encoding a key enzyme in steroid hormone synthesis [2]. Together, variations in this genetic cluster influence adrenal steroid production, renal sodium handling, and arterial stiffness [2] [3]. Consequently, the CNNM2 and CYP17A1 locus is one of the most well-replicated regions associated with systemic blood pressure in genome-wide studies [3].

Variant Impact: The rs11191548 variant is located in the 3 prime untranslated region of the CNNM2 gene, a regulatory segment that influences gene expression levels. This genetic change is in high linkage disequilibrium with functional variants in the neighboring CYP17A1 gene, meaning they are almost always inherited together [2]. The major T allele is associated with altered expression of these local genes, leading to subtle shifts in steroid hormone pathways and mineral balance [2] [1]. These shifts ultimately increase arterial resistance and elevate systemic blood pressure [1]. Conversely, the minor C allele is associated with lower blood pressure levels and a reduced risk of developing hypertension [4].

Key Insight: This genetic variant sits in a highly active chromosomal region where magnesium transport and steroid hormone synthesis overlap to directly control how tightly your blood vessels constrict.

Location: CNNM2. Chromosome 10 · 10q24.32 · 103.1 Mb

Genotype Frequencies

Estimated prevalence by population

Global 82.9%; European 82.8%; African 90.8%; East Asian 52.0%; South Asian 66.7%; Americas 74.3%; Ashkenazi 86.5%; Finnish 85.7%; Middle Eastern 86.2%; Amish 96.5%.

Estimated TT genotype frequency.

Global 16.0%; European 16.4%; African 9.0%; East Asian 40.2%; South Asian 30.0%; Americas 23.8%; Ashkenazi 13.1%; Finnish 13.8%; Middle Eastern 13.3%; Amish 3.4%.

Estimated TC genotype frequency.

Global 1.1%; European 0.8%; African 0.2%; East Asian 7.8%; South Asian 3.4%; Americas 1.9%; Ashkenazi 0.5%; Finnish 0.6%; Middle Eastern 0.5%; Amish < 0.1%.

Estimated CC genotype frequency.

Associated Traits

Showing effects for T/T genotype

Cardiovascular & Metabolic

Hypertension

Hypertension. Evidence: 8/10. Source: PMID 30487518. Increased Risk.

Systolic Blood Pressure. Evidence: 9/10. Source: PMID 19430483. Higher.

Diastolic Blood Pressure. Evidence: 9/10. Source: PMID 21572416. +1.16 mmHg.

Gout & Uric Acid

Gout. Evidence: 7/10. Source: PMID 39024449. Increased Risk.

Obesity & Body Composition

Body Fat Distribution. Evidence: 6/10. Source: PMID 38538606. Typical.

Showing effects for C/C genotype

Hypertension. Evidence: 8/10. Source: PMID 30487518. Typical Risk.

Systolic Blood Pressure. Evidence: 9/10. Source: PMID 19430483. Typical.

Diastolic Blood Pressure. Evidence: 9/10. Source: PMID 21572416. Typical.

Gout. Evidence: 7/10. Source: PMID 39024449. Typical Risk.

Body Fat Distribution. Evidence: 6/10. Source: PMID 38538606. Higher Fat Mass.

Showing effects for T/C genotype

Hypertension. Evidence: 8/10. Source: PMID 30487518. Slightly Increased.

Systolic Blood Pressure. Evidence: 9/10. Source: PMID 19430483. Slightly Higher.

Diastolic Blood Pressure. Evidence: 9/10. Source: PMID 21572416. +0.58 mmHg.

Gout. Evidence: 7/10. Source: PMID 39024449. Slightly Increased.

Body Fat Distribution. Evidence: 6/10. Source: PMID 38538606. Slightly Higher.

What TT Genotype Means

What this genotype means for the people who carry it

Sample genotype: TT (Homozygous)

Having the T/T genotype means inheriting the major genetic variant that is consistently linked to higher blood pressure levels in large-scale global studies [1]. Research indicates that this variant influences the expression of nearby genes involved in steroid hormone metabolism and magnesium transport, which can increase arterial stiffness [2]. Individuals with this genotype show an average increase of over 1 mmHg in diastolic blood pressure compared to those with the protective C/C genotype [3]. This elevated pressure can place additional strain on the cardiovascular system over time [1]. Furthermore, this genotype is associated with a higher likelihood of requiring antihypertensive medications to manage blood pressure [4]. There is also a noted correlation with an increased risk of developing gout [4].

Elevated systolic and diastolic blood pressure; Increased risk of clinical hypertension; Higher likelihood of requiring blood pressure medication.

What CC Genotype Means

Sample genotype: CC (Homozygous)

Having the C/C genotype means carrying two copies of the protective minor allele at this locus. Multiple genome-wide association studies have confirmed that this genetic profile is associated with the lowest average systolic and diastolic blood pressure levels [1]. By avoiding the risk-increasing T allele, this genotype helps maintain healthier vascular function and optimal mineral transport pathways [2]. The risk of developing clinical hypertension is significantly lower for individuals with this profile compared to major allele carriers [3]. Furthermore, this genotype is associated with a lower baseline risk of gout [4]. Although there is a minor association with slightly higher fat pad mass, the cardiovascular benefits of lower blood pressure remain the dominant health feature of this genotype [5].

Lower average systolic and diastolic blood pressure; Reduced risk of developing hypertension; Lower susceptibility to gout.

What TC Genotype Means

Sample genotype: TC (Heterozygous)

Inheriting one T allele and one C allele results in an intermediate blood pressure profile. Large multi-ancestry genetic studies show that each copy of the T allele incrementally raises both systolic and diastolic blood pressure [1]. This effect is driven by the T allele's influence on the CNNM2 and CYP17A1 gene cluster, which affects how the body regulates vascular tension and mineral balance [2]. While the single protective C allele helps mitigate some of this risk, the overall trajectory still leans toward slightly elevated arterial pressure compared to the baseline [3]. Additionally, this genotype carries a moderately increased risk of gout due to the presence of the T allele [4]. Managing lifestyle factors such as dietary sodium and potassium intake remains highly relevant for individuals with this genetic profile [5].

Slightly elevated blood pressure levels; Moderate increase in hypertension susceptibility; Slightly higher risk of gout.

Related Variants

Variants with shared genetic architecture

rs12413409 · CNNM2 Gene · Chr 10 · Cardiovascular Risk

rs1173771 · NPR3 Gene · Chr 5 · Blood Pressure Risk

rs1458038 · FGF5 Gene · Chr 4 · Blood Pressure

Sources

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

Genome-wide association study identifies eight loci associated with blood pressure.

Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.

Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

New role of fat-free mass in cancer risk linked with genetic predisposition.

Identifying Interactions between Dietary Sodium, Potassium, Sodium-Potassium Ratios, and FGF5 rs16998073 Variants and Their Associated Risk for Hypertension in Korean Adults.

Back to Variant Explorer

Content updated August 2026.

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