Detection of the most common nonfunctional CYP2C9 alleles by loop-mediated isothermal amplification.
The LAMP human CYP2C9 mutation KIT is an in vitro diagnostic test intended for the qualitative detection of two different CYP2C9 alleles. This assay is dedicated to professional use in diagnostic laboratory. The device is not for self-testing.
CYP2C9 enzyme deficiency
The CYP2C9 gene is located on human chromosome 10. The CYP2C9 enzyme plays an important role in the metabolization of many drugs. Therefore, people with a lower enzyme activity increase their susceptibility to adverse drug reactions or present a lack of response to treatment. Indeed, the carriers of CYP2C9 mutations are not able to normally metabolize different drugs. The principal cause of a deficiency of CYP2C9 enzyme is genetic. The CYP2C9 enzyme is involved in the metabolism of phenytoin (anticonvulsant), tolbutamide (hypoglycemic drug) losartan (anti-hypertensive), ibuprofen (anti-inflammatory) and warfarin (anticoagulant), among others.
CYP2C9*2 (rs1799853, 430C>T or R144C)
CYP2C9*3 (rs1057910, 1075A>C or I359L)
These two common SNPs in the Caucasian population are responsible for a reduction in the metabolism since they are related with a reduction in CYP2C9 enzyme activity to approximately 12 to 70% (CYP2C9*2) and 5% (CYP2C9*3) compared to the wild-type CYP2C9 activity.
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