What you carry at this position in your DNA and what research says about it.
Blood Pressure: 10/10 evidence, 27 publications.
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Sample genotype (not yours): C/C
Lower Blood Pressure and Hypertension Risk
A common genetic profile is associated with lower resting blood pressure and a reduced risk of developing hypertension. However, there is a slight tendency toward higher LDL cholesterol levels.
What this genotype means: Lower resting blood pressure; Reduced risk of hypertension; Slightly higher LDL cholesterol.
Sample genotype (not yours): C/T
Slightly Elevated Blood Pressure and Hypertension Risk
Carrying one copy of the T allele is linked to a moderate increase in resting blood pressure and hypertension risk. This profile also slightly elevates the risk of atrial fibrillation.
What this genotype means: Slightly higher resting blood pressure; Increased risk of hypertension; Slightly lower LDL cholesterol.
Sample genotype (not yours): T/T
Higher Blood Pressure and Hypertension Risk
Carrying two copies of the T allele is associated with the highest risk of elevated blood pressure and hypertension. It also increases the risk of atrial fibrillation and preeclampsia.
What this genotype means: Higher resting blood pressure; Significantly increased risk of hypertension; Lower LDL cholesterol.
Gene function and biological role
Gene Function: The uncharacterized genetic region LOC124900725 is located on chromosome 4 near the FGF5 gene, which encodes fibroblast growth factor 5. Fibroblast growth factors are key signaling proteins involved in cell growth, tissue repair, and blood vessel development. Although LOC124900725 itself does not code for a known protein, genetic variations in this region are highly correlated with the expression of nearby genes like FGF5 [1]. Research indicates that FGF5 plays a critical role in regulating vascular smooth muscle tone and systemic blood pressure [2]. Consequently, this genomic locus is a major focus of cardiovascular genetics.
Variant Impact: The rs1458038 variant is an intronic single nucleotide polymorphism located within the LOC124900725 region, positioned close to the FGF5 gene. This genetic change alters regulatory elements that influence how nearby cardiovascular genes are expressed in blood vessels and kidney tissues [1]. Large-scale genome-wide association studies have repeatedly linked this specific variant to variations in resting blood pressure and overall hypertension risk [2]. The minor T allele is associated with elevated blood pressure, whereas the major C allele correlates with lower blood pressure but slightly higher lipid levels [3]. Understanding this variant helps clarify individual differences in cardiovascular health and medication response.
Key Insight: This variant represents a genetic trade-off where the allele that increases blood pressure and hypertension risk actually lowers LDL cholesterol and gout risk.
Location: FGF5. Chromosome 4 · 4q21.21 · 80.2 Mb
Estimated prevalence by population
Global 59.1%; European 49.5%; African 84.2%; East Asian 34.0%; South Asian 51.0%; Americas 55.2%; Ashkenazi 57.7%; Finnish 46.2%; Middle Eastern 63.3%; Amish 33.0%.
Estimated CC genotype frequency.
Global 34.2%; European 41.7%; African 15.1%; East Asian 48.6%; South Asian 40.8%; Americas 38.2%; Ashkenazi 36.5%; Finnish 43.5%; Middle Eastern 32.5%; Amish 48.9%.
Estimated CT genotype frequency.
Global 6.7%; European 8.8%; African 0.7%; East Asian 17.3%; South Asian 8.2%; Americas 6.6%; Ashkenazi 5.8%; Finnish 10.3%; Middle Eastern 4.2%; Amish 18.1%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Hypertension
Blood Pressure. Evidence: 10/10. Source: PMID 21909115. Lower Risk.
Heart Rhythm & Conduction
Atrial Fibrillation. Evidence: 8/10. Source: PMID 29892015. Lower Risk.
Lipids & Cholesterol
LDL Cholesterol. Evidence: 8/10. Source: PMID 32203549. Slightly Higher.
Gout & Uric Acid
Gout. Evidence: 6/10. Source: PMID 39406924. Slightly Higher Risk.
Endocrine & Reproductive
Pregnancy & Birth Complications
Preeclampsia. Evidence: 6/10. Source: PMID 33239696. Lower Risk.
Showing effects for C/T genotype
Blood Pressure. Evidence: 10/10. Source: PMID 21909115. Slightly Higher Risk.
Atrial Fibrillation. Evidence: 8/10. Source: PMID 29892015. Slightly Higher Risk.
LDL Cholesterol. Evidence: 8/10. Source: PMID 32203549. Typical Levels.
Gout. Evidence: 6/10. Source: PMID 39406924. Typical Risk.
Preeclampsia. Evidence: 6/10. Source: PMID 33239696. Slightly Higher Risk.
Showing effects for T/T genotype
Blood Pressure. Evidence: 10/10. Source: PMID 21909115. Higher Risk.
Atrial Fibrillation. Evidence: 8/10. Source: PMID 29892015. Higher Risk.
LDL Cholesterol. Evidence: 8/10. Source: PMID 32203549. Slightly Lower.
Gout. Evidence: 6/10. Source: PMID 39406924. Slightly Lower Risk.
Preeclampsia. Evidence: 6/10. Source: PMID 33239696. Higher Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Maintaining lower systemic blood pressure is a key benefit associated with this genetic profile [1]. Large-scale clinical studies show that carrying two copies of the C allele significantly reduces the likelihood of developing hypertension compared to carrying the T allele [2]. This protective effect extends to other cardiovascular complications, including a lower risk of developing atrial fibrillation [3] and preeclampsia during pregnancy [4]. On the metabolic side, this profile is linked to slightly higher levels of LDL cholesterol and apolipoprotein B [5]. It also carries a marginally increased susceptibility to gout [6]. Despite these minor metabolic trade-offs, the overall cardiovascular profile remains highly favorable due to the strong protection against high blood pressure.
Lower resting blood pressure; Reduced risk of hypertension; Slightly higher LDL cholesterol.
Sample genotype: CT (Heterozygous)
Elevated resting blood pressure is more common with this single-copy genetic variation [1]. Having one T allele is associated with a moderate increase in both systolic and diastolic blood pressure measurements [2]. This elevation in pressure translates to a higher risk of developing clinical hypertension over time [2]. Additionally, the increased strain on the cardiovascular system is linked to a slightly higher risk of atrial fibrillation, a common heart rhythm disorder [3]. Pregnant individuals with this profile may also experience a slightly higher risk of preeclampsia [4]. On the positive side, this variation is associated with slightly lower levels of LDL cholesterol and apolipoprotein B [5]. It also offers a minor protective effect against developing gout [6]. Managing lifestyle factors like diet and exercise is particularly beneficial for supporting cardiovascular health with this profile.
Slightly higher resting blood pressure; Increased risk of hypertension; Slightly lower LDL cholesterol.
Sample genotype: TT (Homozygous)
Significant increases in resting blood pressure are strongly associated with carrying two copies of the T allele [1]. This genetic profile is linked to the highest risk of developing clinical hypertension among the three genotypes [2]. The chronic elevation in blood pressure contributes to a higher risk of atrial fibrillation [3] and preeclampsia during pregnancy [4]. On the positive side, this profile is associated with lower levels of LDL cholesterol and apolipoprotein B [5]. It also correlates with a lower risk of developing gout [6]. Despite these minor metabolic advantages, active blood pressure monitoring and cardiovascular support are highly recommended for this profile.
Higher resting blood pressure; Significantly increased risk of hypertension; Lower LDL cholesterol.
Variants with shared genetic architecture
rs10857147 · FGF5 Gene · Chr 4 · Blood Pressure
rs12509595 · FGF5 Gene · Chr 4 · Blood Pressure Risk
rs16998073 · FGF5 Gene · Chr 4 · Blood Pressure and Hypertension
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
Interethnic analyses of blood pressure loci in populations of East Asian and European descent.
Multi-ethnic genome-wide association study for atrial fibrillation.
A genome-wide association analysis reveals new pathogenic pathways in gout.
Content updated August 2026.
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