Mechanism:

  • 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].

rs12434438

Parent Gene: HIF1A

Importance: 2
Less common allele: G = 42%
More common allele: A = 58%
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