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SelfDecode uses the only scientifically validated genetic prediction technology for consumers. Read more
EPAS1
SNP Table
| variant | genotype | frequency | risk allele |
|---|---|---|---|
| rs7557402 | |||
| rs3768730 | |||
| rs11675328 | |||
| rs13424253 | |||
| rs11692911 | |||
| rs2346176 | |||
| rs3768729 | |||
| rs10191091 | |||
| rs1530631 | |||
| rs1530633 | |||
| rs1562452 | |||
| rs1562453 | |||
| rs1684233860 | |||
| rs2881324 | |||
| rs3754556 | |||
| rs3768727 | |||
| rs3768728 | |||
| rs4953356 | |||
| rs4953358 | |||
| rs4953359 |
Find on This Page
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. Mutations can cause a higher risk of blood clots (R).
Lifestyle and supplement modifications may counteract the effects of these variants by preventing an increase in HIF-2a.
Protein names
Found in These Blog Articles
GHR Function
The EPAS1 gene, often known as HIF2A, provides instructions for making a protein called hypoxia-inducible factor 2-alpha (HIF-2α). This protein is one part (subunit) of a larger protein complex called HIF, which plays a critical role in the body's ability to adapt to changing oxygen levels. HIF controls several important genes involved in cell division, the formation of new blood vessels, and the production of red blood cells. It is the major regulator of a hormone called erythropoietin, which controls red blood cell production.
HIF-2α is constantly produced in the body. When adequate oxygen is available, other proteins target HIF-2α to be broken down (degraded) so it does not build up. However, when oxygen levels are lower than normal (hypoxia), HIF-2α is degraded at a slower rate. Consequently, more HIF is available to stimulate the formation of new blood vessels and the production of red blood cells. These activities help maximize the amount of oxygen that can be delivered to the body's organs and tissues.
Studies suggest that the EPAS1 gene is involved in the body's adaptation to high altitude. At higher altitudes, such as in mountainous regions, air pressure is lower and less oxygen enters the body through the lungs. Over time, the body compensates for the lower oxygen levels by changing breathing patterns and producing more red blood cells and blood vessels.
More Information
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].
At least five mutations in the EPAS1 gene have been found to cause familial erythrocytosis, an inherited condition characterized by an increased number of red blood cells and an elevated risk of abnormal blood clots. These mutations change single protein building blocks (amino acids) in the HIF-2α protein, which prevent it from interacting normally. As a result, the presence of extra HIF leads to the production of red blood cells when no more are needed, resulting in an excess of these cells in the bloodstream.
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