What you carry at this position in your DNA and what research says about it.
Blood Pressure Risk: 8/10 evidence, 11 publications.
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Sample genotype (not yours): G/G
Typical Blood Pressure Risk
This genotype is associated with typical blood pressure levels and a lower risk of developing hypertension. However, it may carry a slightly higher susceptibility to certain hormone-sensitive tissues.
What this genotype means: Typical blood pressure levels; Lower risk of hypertension; Slightly higher breast cancer susceptibility.
Sample genotype (not yours): A/A
Higher Blood Pressure Risk
Carrying two copies of the A allele is associated with higher average blood pressure and an increased risk of developing hypertension. It may also correlate with higher infant birth weight.
What this genotype means: Higher average blood pressure; Increased risk of hypertension; Association with higher birth weight.
Sample genotype (not yours): G/A
Slightly Higher Blood Pressure Risk
Carrying one copy of the A allele is linked to a minor increase in blood pressure and a slightly elevated risk of hypertension. It represents an intermediate genetic profile.
What this genotype means: Slightly elevated blood pressure; Modestly increased hypertension risk.
Gene function and biological role
Gene Function: The MRPL23 gene encodes a protein component of the large subunit of mitochondrial ribosomes, which are essential for translating proteins within mitochondria [1]. Although MRPL23 is a protein-coding gene, this genomic region is highly complex and overlaps with the well-studied long non-coding RNA H19 [2]. H19 is a maternally expressed imprinted gene that plays a critical role in embryonic development and cellular growth [3]. Together, these overlapping genetic structures influence cellular metabolism, tissue growth, and blood vessel function [4].
Variant Impact: The rs217727 variant is located within an intron of the MRPL23 gene and also resides within exon 5 of the overlapping H19 long non-coding RNA [5]. This genetic change acts as an expression quantitative trait locus, meaning it directly modulates the activity levels of nearby genes in whole blood and blood vessels [4]. By altering the expression of H19 and MRPL23, this variant affects endothelial cell function and vascular resistance [1]. Consequently, it has been identified as a significant genetic marker for blood pressure regulation and cardiovascular health [6].
Key Insight: This variant sits in a highly unique genomic region where a protein-coding gene and a long non-coding RNA overlap, allowing it to simultaneously influence blood vessel tension and cellular growth pathways.
Location: MRPL23. Chromosome 11 · 11p15.5 · 2.0 Mb
Estimated prevalence by population
No frequency data available
This variant is not present in the gnomAD database.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Hypertension
Blood Pressure. Evidence: 8/10. Source: PMID 27841878. Typical.
Cancer & Oncology
Breast Cancer
Breast Cancer. Evidence: 6/10. Source: PMID 29059683. Increased Risk.
Endocrine & Reproductive
Pregnancy & Birth Complications
Birth Weight. Evidence: 3/10. Source: PMID 25173192. Typical.
Showing effects for A/A genotype
Blood Pressure. Evidence: 8/10. Source: PMID 27841878. Increased Risk.
Breast Cancer. Evidence: 6/10. Source: PMID 29059683. Typical.
Birth Weight. Evidence: 3/10. Source: PMID 25173192. Higher.
Showing effects for G/A genotype
Blood Pressure. Evidence: 8/10. Source: PMID 27841878. Slightly Increased.
Breast Cancer. Evidence: 6/10. Source: PMID 29059683. Slightly Increased.
Birth Weight. Evidence: 3/10. Source: PMID 25173192. Slightly Higher.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele is associated with lower average systolic and diastolic blood pressure compared to carrying the A allele [1]. Large-scale genome-wide association studies have demonstrated that the G allele is protective against hypertension and elevated pulse pressure [2]. This protective effect is thought to be driven by optimal endothelial cell function and healthy vascular resistance [3]. Conversely, some studies suggest that the G allele is associated with a slightly increased susceptibility to breast cancer [4]. Overall, this genotype represents the most common genetic baseline for cardiovascular health.
Typical blood pressure levels; Lower risk of hypertension; Slightly higher breast cancer susceptibility.
Sample genotype: AA (Homozygous)
Individuals with two copies of the A allele show the strongest genetic association with elevated systolic and diastolic blood pressure [1]. Multi-ancestry genetic studies have consistently identified the A allele as a risk factor for hypertension and increased pulse pressure [2]. This genotype is believed to alter vascular endothelial cell pathways, leading to higher arterial resistance [3]. Interestingly, this same genetic profile is associated with higher infant birth weight, likely due to its regulatory effects on growth factors [4].
Higher average blood pressure; Increased risk of hypertension; Association with higher birth weight.
Sample genotype: GA (Heterozygous)
Having a heterozygous genotype means carrying one copy of the blood pressure-increasing A allele [1]. Research indicates that individuals with this profile tend to have slightly higher systolic and diastolic blood pressure measurements compared to those with the G/G genotype [2]. This genetic variation subtly alters the expression of the H19 and MRPL23 genes, which can influence vascular tone [3]. While the increase in risk is modest, maintaining a heart-healthy lifestyle is beneficial for managing overall cardiovascular risk [4].
Slightly elevated blood pressure; Modestly increased hypertension risk.
Variants with shared genetic architecture
rs2107425 · MRPL23 Gene · Chr 11 · Cancer Susceptibility
rs1173771 · NPR3 Gene · Chr 5 · Blood Pressure Risk
rs1458038 · FGF5 Gene · Chr 4 · Blood Pressure
Interethnic analyses of blood pressure loci in populations of East Asian and European descent.
Association analysis identifies 65 new breast cancer risk loci.
Content updated August 2026.
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