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Mechanism:

  • The A (minor) allele is associated with increased levels of ABCC2 protein in body (R).

  • The G (major) allele is associated with normal levels of ABCC2 protein in the body.

The A (minor) allele is associated with:

  • Neurological adverse drug reactions caused by taking carbamazepine (A). Functional studies showed that this SNP selectively reduced carbamazepine transport across the cell membrane (R).

  • Potentially lower levels of Deferasirox (DFX) in the blood after dosing intervals (R). Deferasirox is a once a day oral chelator of iron.

  • Decreased liver toxicity in response to the drug pemetrexed in patients being treated for malignant pleural mesothelioma (R).

  • Increased umbilical cord mercury concentrations in pregnant women that eat fish (R). This may affect early development of the fetus if too much fish is consumed.

  • Increased risk of seizures in epileptic patients (AA) (R).

  • Associated with rs717620 (R).This SNP is associated with drug resistance in epileptic patients (R).

The G (major) allele is associated with:

  • Higher levels of mercury in the urine of subjects exposed to mercury (R).

rs2273697

Parent Gene: ABCC2
Importance: 5
Minor Allele: None = None
Major Allele: G = None
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