Mechanism:

  • T (minor) allele is associated with significantly reduced levels of active ABCC4 protein in the body (R). This causes 6-thioguanine nucleotide to build up in cells because the ABCC4 cannot remove the molecule (R).

The T (minor) allele is associated with:

  • Increased sensitivity to thiopurine (anti-cancer, immuno suppressant) drugs in inflammatory bowel disease patients in remission (R). This is because 6-thioguanine nucleotide (an active ingredient of thiopurine) cannot be exported from the cell.

 

rs3765534

Parent Gene: ABCC4

Importance: 2
Less common allele: T = 3%
More common allele: C = 97%
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