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The A (minor) allele is associated with:

  • AA= higher TGF-Œ≤1 levels because more TGF-Œ≤1 is produced, by preventing AP1 from binding to this region where in the C version it would normally downregulate production.
  • A= lower Bone Density

The G (major) allele is associated with:

  • GG= lower TGF-Œ≤1 levels, causing a higher risk for COPD.
  • AG=slightly higher TGF-Œ≤1 levels, causing slightly higher risk for COPD.

 

rs1800469

Parent Gene: B9D2, TGFB1

Importance: 4
Less common allele: A = 37%
More common allele: G = 63%
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Risk Allele: A, G, G