Tri-Allelic Haplotypes Determine and Differentiate Functionally Normal Allele CYP2D6*2 and Impaired Allele CYP2D6*41.

Abstract excerpt

CYP2D6 metabolizes 20-25% of all clinically used drugs and its complex genetic polymorphism is a major determinant of drug safety and efficacy. We investigated the basis for the functional difference between the two common alleles *2 (g.2851C>T + g.4181G>C, normal function) and *41 (additional intronic g.2989G>A, reduced function). A recently reported far-distant enhancer polymorphism rs5758550A/G linked to *2...

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