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EPAS1

The Effects of a High-Altitude Gene on Blood Pressure (EPAS1)

Written by Shany Lahan, MS (Neuroscience) on January 14th, 2021

The EPAS1 gene is involved in red blood cell proliferation. How might a variant of EPAS1 mediate excessive red blood cell production and raise blood pressure? Read more to find out.

Summary

EPAS1 encodes hypoxia-inducible factor 2-alpha (HIF-2a), a protein that boosts the production of red blood cells. Variants of EPAS1 may play a role in high blood pressure by increasing HIF-2a production and in turn, thickening blood. Lifestyle and supplement modifications may counteract the effects of these variants by preventing an increase in HIF-2a.

EPAS1 and Blood Pressure

Individuals that enter high altitudes often experience rapid reductions in atmospheric pressure. This may result in hypoxia, a condition in which tissues lack oxygen [R].

Among its many negative effects, hypoxia may boost the production of red blood cells (polycythemia), a process that makes blood thicker and consequently lowers its flow rate [R].

In cases of polycythemia, the body attempts to counteract this slow rate of blood flow by raising blood pressure. High blood pressure may increase the risk of other conditions, including heart attack and stroke [R, R].

A striking example of natural selection in humans is the acquired ability of Tibetans to survive in high-altitude environments. Scientists have theorized that this adaptation may be partly due to genetic differences in the EPAS1 gene [R].

EPAS1 encodes hypoxia-inducible factor 2-alpha (HIF-2a), one of two proteins that combine to form hypoxia-inducible factor 2 (HIF-2). In response to hypoxia, HIF-2 increases the production of erythropoietin, a hormone involved in red blood cell growth and division [R, R].

Tibetans are likely protected from changes associated with polycythemia due to limited increases in HIF-2a levels, when exposed to hypoxic conditions [R].

Unsurprisingly, a variant of EPAS1 has been linked to high blood pressure. This variant may elevate HIF-2a, exacerbating red blood cell proliferation and thickening blood [R, R, R, R, R].

Your EPAS1 Results for Blood Pressure

SNP Table

variant	genotype	frequency	risk allele
rs10168349

Primary SNP:

EPAS1 rs10168349 [R]

‘G’ = Higher odds of high blood pressure, relative to ‘C’
‘C’ = Lower odds of high blood pressure, relative to ‘G’

Recommendations

Lifestyle

Stress Management

Stressed individuals tend to breathe shallowly, and people with anxiety often hyperventilate. Shallow breathing and hyperventilation have both been shown to lower oxygen levels. As low oxygen may stimulate HIF-2a, carriers of EPAS1 risk variants may benefit from stress management [R, R].

Experiencing psychological stress was associated with an approximate 2.5-fold higher risk of high blood pressure in a meta-analysis of 11 studies. In people with high response to stressors, psychological stress further increases blood pressure by 21% [R, R].

Stress from job strain has also been associated with higher blood pressure, especially in men [R, R].

Stress-reduction techniques such as stress management training, biofeedback, and muscle relaxation lowered blood pressure in several clinical trials [R, R, R]

Stress management may help lower blood pressure by preventing an increase in HIF-2a activity.

Moderate Sun Exposure

Sunlight (UV radiation specifically) may lower blood pressure by increasing nitric oxide, which relaxes the blood vessels and improves the flow of oxygen to tissues. This suggests that moderate sun exposure may help prevent HIF-2a activity [R, R].

In a study of over 5000 adult Chileans, the rates of hypertension in the general population gradually increased from the North (29%) to the South (37%) of the country. Because Chile is the longest country in the world, the North and South greatly differ in terms of sunlight incidence [R].

Similarly, a large-scale study including 2,178 different dialysis centers in the US and over 340,000 patients measured lower pre-dialysis blood pressure levels in seasons and locations with high sunlight incidence [R].

A meta-analysis of 10 observational studies and 5 clinical trials associated high sunlight exposure with lower blood pressure and found that both short-term (under 30 minutes) and long-term (6 weeks) exposure to UV radiation may decrease blood pressure [R].

Moderate sun exposure may help lower blood pressure by preventing an increase in HIF-2a activity.

Supplements

L-Arginine

L-arginine increases the production of nitric oxide and stops its breakdown. By expanding and relaxing the blood vessels, this molecule increases blood flow, improves tissue oxygenation, and lowers blood pressure [R, R].

The effects of L-arginine have specifically been shown to counter the effects of hypoxia, suggesting that this supplement may prevent increases in HIF-2a activity [R, R].

A meta-analysis of 11 trials found that oral L-arginine (4-24 g/day) lowered systolic (by 5.39 mmHg) and diastolic (by 2.66 mmHg) blood pressure. L-arginine may lower diastolic (by 3.07 mmHg) but not systolic blood pressure in pregnant women, according to a meta-analysis of 5 studies [R, R].

L-arginine may help lower blood pressure by preventing an increase in HIF-2a activity.

Shany Lahan

MS (Neuroscience)

Shany received her MSc in Neuroscience from Western University.

Prior to joining SelfDecode, Shany conducted research related to Alzheimer’s disease, and taught science to undergraduate students. She believes that research should be accessible to everyone, regardless of scientific background. Shany joined SelfDecode with a mission to help others optimize their health and wellbeing – as well as help them understand the science behind it all.

Disclaimer

The information on this website has not been evaluated by the Food & Drug Administration or any other official medical body. This information is presented for educational purposes only, and may not be used to diagnose or treat any illness or disease.

Also keep in mind that the “Risk Score” presented in this post is based only on a select number of SNPs, and therefore only represents a small portion of your total risk as an individual. Furthermore, these analyses are based primarily on associational studies, which do not necessarily imply causation. Finally, many other (non-genetic) factors can also play a significant role in the development of a disease or health condition — therefore, carrying any of the risk-associated genotypes discussed in this post does not necessarily mean you are at increased risk of developing a major health condition.

Always consult your doctor before acting on any information or recommendations discussed in this post — especially if you are pregnant, nursing, taking medication, or have been officially diagnosed with a medical condition.

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Summary EPAS1 and Blood Pressure Your EPAS1 Results for Blood Pressure

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The Effects of a High-Altitude Gene on Blood Pressure (EPAS1)

Summary

EPAS1 and Blood Pressure

Your EPAS1 Results for Blood Pressure

SNP Table

Recommendations

Lifestyle

Stress Management

Moderate Sun Exposure

Supplements

L-Arginine

Disclaimer

More heart & blood vessels blogs

Content

Unlock Personalized Results And So Much More!

Essential Bundle

Essential

Bundle

Ultimate Bundle

Limited Time Offer 25% Off

Individual DNA Reports

Methylation Pathway - MTHFR Test

Histamine Intolerance DNA Pathway Report

Gut Health, Digestion & IBS DNA Report

Autoimmune Disease Risk & Prevention DNA Report

See all reports

Policies

About

Navigation

Health reports