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Mechanism:

  • IGFBP3 binds insulin growth factors 1 and 2 (IGF-1, IGF-2) and acts as a the main carrier of both factors through the bloodstream [R].
  • Normal levels of IGFBP3 in the body (T)
  • Decreased amounts of IGFBP3 in the body (C) [R].

The Minor "C" allele is associated with:

  • Avascular necrosis of femoral head (ANFH) [R]. ANFH occurs when the femoral head is cut off from the bloodstream [R]. ANFH results in bone collapse [R].
  • Other avascular necrosis events due to low IGFBP3 levels.
  • Decreased risk of developing endometrial cancer [R].
  • Increased mammographic breast density [R]. This may increase the risk of developing breast cancer and also makes it harder to read a mammogram [R].
  • May play a role in breast carcinogenesis [R].

The Major "T" allele is associated with:

  • Lower mammographic breast density. This may lead to lower risk of breast cancer [R] [R].
  • Decreased risk of avascular necrosis [R].
  • High IGFBP3, which may cause an increase in the risk of developing cancers [R].
  • Possible decreased survival rate in subjects with cancer due to high IGFBP3 levels [R].

rs2453839

Parent Gene: IGFBP3
Importance: 3
Minor Allele: C = 25%
Major Allele: T = 75%
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