Mechanism:

  • Normal to high levels of hypoxia-inducible factor 1a (HIF1A) in the body (CC). [R]
  • Major "A" allele= Normal/ high levels of HIF1A in the body. [R][R]
  • Minor "C" allele= Low levels of HIF1A in the body. [R][R]
  •  HIF1A is important in distributing oxygen to cells. [R]
  • Lower levels of the protein may increase the risk of cells not receiving enough oxygen in the body. Decreased levels of HIF1A may cause cells in the body to not be able to grow as well. [R]

The Minor "C" allele is associated with:

  • Increased risk of developing multiple forms of cancer. [R][R][R][R]
  • Decreased survival rate if the patient has developed these forms of cancer. [R][R][R][R][R]
  • Decreased risk of developing prostate cancer. [R]
  • Increased risk of developing coronary artery disease compared to "A" allele. [R]
  • Increased risk of developing Type 2 Diabetes, obesity, and hypertension compared to "A" allele. [R]
  • Decreased risk of heart failure in patients that have already developed diabetes. [R]
  • Longer survival rates in patients with thymic malignancies after a thymectomy. [R]

The major "A" allele is associated with:

  • Decreased risk of developing obesity, hypertension, and type 2 diabetes. [R]
  • Paired with diabetes, this polymorphism may cause increased risk of diabetic heart failure. [R]
  • Possible increased the risk of Prostate cancer. [R]
  • Higher renal cell carcinoma survival rate. [R]
  • Lower risk of pancreatic ductal adenocarcinoma (PDAC). [R] If PDAC does develop, the survival rate is higher in those with this allele. [R]
  • An increased survival rate of patients with colorectal cancer. [R]
  • The increased survival rate of patients that develop small-cell lung cancer, if this cancer is detected at early stages. [R]
  • Decreased risk of developing premature Coronary Artery Disease (CAD). [R]
  • Decreased likelihood of developing hepatocellular carcinoma (HCC)[R], increased HCC survival rate if the disease does develop [R] - This is especially true in aggressive cases [R]. In addition, decreased recurrence risk of HCC if the disease is developed and treated. [R]

This SNP is associated with (unknown alleles):

  • Increased risk of death and recurrence of tumors in patients of early stage non-small-cell lung cancer. [R]

rs2301113

Parent Gene: HIF1A

Importance: 4
Less common allele: C = 47%
More common allele: A = 53%
My Genotype: Log In