- Normal levels of Hypoxia-Inducible factor 1 alpha (HIF-1A) in the body (AA).
- Normal levels of HIF1A in the body (A).
- Changed levels of HIF1A in the body. The Direction of the change is unknown. More research should be conducted (G).
- HIF-1A is essential in making sure that all regions within the body receive enough Oxygen [R].
- Over expression of HIF-1A may increase risk for cancers while under expression of HIF-1A may cause tissue death [R].
The Minor "G" allele is associated with:
- Systemic sclerosis in European Populations [R]. This association was not found in Chinese populations [R]. Systemic sclerosis leads to thickening of the skin caused by increased collagen production [R]. The disease can also affect organs such as the kidneys, lungs, and heart, causing thickening of these tissues [R].
- Less favorable outcome to treatment with sorafenib in patients with non-colorectal gastrointestinal cancer [R].
The Major "A" allele is associated with:
- Decreased risk of Systemic Sclerosis [R].
- More favorable outcome to treatment with sorafenib in patients with non-colorectal gastrointestinal cancer [R].
This SNP is associated with (unknown alleles):
- AG hetero-zygote is also associated with increased risk of developing Systemic sclerosis [R].