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487 artículo de revisión Farmacogenómica, medicina personalizada y la práctica clínica - L. Quiñones et al Tabla 2. Enzimas de Fase 1 y Fase 2 con sus principales variantes alélicas clínicamente relevantes6,14 Enzimas Variante*** Cambio génico* Rs Actividad enzimática**** Frecuencias alélicas (%)** Fármacos AMR AFR EUR EAS SAS metabolizados CYP2C9 CYP2C9 *1 Ref. -  Normal Warfarina Fenitoina AINES Acenocumarol Celecoxib CYP2C9 *2 c.430C>T rs1799853 Disminuida 10 1 12 0 3 CYP2C9 *3 c.1075A>C rs1057910 Disminuida 4 0 7 3 11 CYP2C9*4 T>C rs56165452 Disminuida N.D N.D N.D N.D N.D CYP2C9 *5 c.1080C>G rs28371686 Disminuida 0 2 0 0 0 CYP2C9*8 c.449G>A rs7900194 Disminuida 0 5 0 0 0 CYP2C19 CYP2C19 *1 Ref. - Normal Clopidogrel Voriconazol Citalopram Lansoprazol Escitalopram Ácido Acetilsalicílico Sertralina Amitriptilina Clomipramina Omeprazol Rabeprazol Clobazam Trimipramina Imipramina CYP2C19 *2 c.681G>A rs4244285 Disminuida 11 17 15 31 36 CYP2C19 *3 c.636G>A rs4986893 Disminuida 0 0 0 6 1 CYP2C19 *4 c.1A>G rs28399504 Disminuida 0 0 0 0 0 CYP2C19 *5 c.1297C>T rs56337013 Disminuida N.D N.D N.D N.D N.D CYP2C19 *6 c.395G>A rs72552267 Disminuida N.D N.D N.D N.D N.D CYP2C19 *8 c.358T>C rs41291556 Disminuida 0 0 0 0 0 CYP2C19 *17 n.932-13158C>A, (alelo A) n.932-13158C>T (alelo T) rs12248560 Aumentada 12 24 22 1 14 CYP2D6 CYP2D6 *1 Ref. - Normal Ondansetron Nortriptilina Codeina Tramadol Paroxetina Tamoxifeno Fluvoxamina Flecainida Oxicodona Doxepina Tolteradina Mirtazapina Propafenona Venlafaxina Trimipramina Clomipramina Imipramina Desipramina Risperidona Atomoxetina Amitriptilina CYP2D6 *1xN Duplicación - Aumentada N.D. N.D. N.D. N.D. N.D. CYP2D6*2 G>A rs16947 Normal 33 55 34 14 36 C>G rs1135840 Normal 52 32 45 30 47 CYP2D6 *2xN Duplicación -  Aumentada N.D. N.D. N.D. N.D. N.D. CYP2D6 *3 delT rs35742686 Ninguna 1 0 2 0 0 CYP2D6 *4 C>T rs3892097 Ninguna 13 6 19 0 11 C>G rs1135840 Ninguna 52 32 45 30 47 G>A rs1065852 Ninguna 15 11 20 57 16 CYP2D6 *5 Deleción - Ninguna N.D. N.D. N.D. N.D. N.D. CYP2D6 *6 delA rs5030655 Ninguna 0 0 2 0 0 CYP2D6 *10 G>A rs1065852 Disminuida 15 11 20 57 16 C>G rs1135840 Disminuida 52 32 45 30 47 CYP2D6 *17 G>A rs28371706 Disminuida 1 22 0 0 0 G>A rs16947 Disminuida 33 55 34 14 36 C>G rs1135840 Disminuida 52 32 45 30 47 CYP2D6 *41 G>A rs16947 Disminuida 33 55 34 14 36 C>T rs28371725 Disminuida 6 2 9 4 12 C>G rs1135840 Disminuida 52 32 45 30 47 Rev Med Chile 2017; 145: 483-500


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