Table 1:
Efficacy and Adverse Event Phenotype-Genotype Interactions
| Gene | Variant |
Relevant
Population* |
Genotyping Result | Predicted Phenotype |
|---|---|---|---|---|
| ADRB1 | rs1801252, rs1801253 | 0 copies of 49S-389Ra | Reduced Beta-Blocker Efficacy | |
| 1 copy of 49S-389R | Standard Beta Blocker Efficacy | |||
| 2 copies of 49S-389R | Increased Beta Blocker Efficacy | |||
| CYP2C19 | rs4244285, rs4986893, rs28399504, rs72552267, rs41291556, rs6413438, rs12248560 | *1/*1, *1/*17 | Standard Clopidogrel Efficacy | |
| *1/*2, *3, *4, *6, *8, *2/*2, *3, *4, *6, *8, *17b | Reduced Clopidogrel Efficacy | |||
| *17/*17 | Increased Risk of Bleeding | |||
| CYP2C9 | rs1799853, rs1057910, rs28371686, rs9332131, rs7900194, rs28371685 | *1/*1 | Standard Losartan Efficacy | |
| *1/*2, *3, *5, *6, *8, *11b | Reduced Losartan Efficacy | |||
| CYP2D6 | rs16947, rs1135840, rs35742686, rs3892097, rs1065852, rs5030655, rs5030867, rs5030865(A), rs5030656, rs1065852, rs1135840, rs5030865(T), rs28371706, rs61736512, rs59421388, rs1135840, rs28371725 | *1/*1, *2, *9, *10, *17, *2/*2, *9, *10, *17, *29, *41b | Standard Metoprolol Efficacy | |
| *1/*1xN, *1/*2xN, *2/*2xNb | Reduced Metoprolol Efficacy | |||
| *1/*3, *4, *5, *6, *7, *8, *11, *12, *13, *14, *15, *16 c | Increased Bradycardia with Metoprolol | |||
| CYP3A4 | rs55785340, rs35599367 | CYP3A5 *3/*3,*6,*7 b |
*1/*1, *1/*22 | Standard Tacrolimus Dosing |
| *22/*22 | Reduced Tacrolimus Dosing | |||
| CYP3A5 | rs776746, rs10264272, rs41303343 | *3/*3, *6, *7b | Standard Tacrolimus Dosing | |
| *1/*1, *3, *6, *7 | Increased Tacrolimus Dosing | |||
| F7 | rs6046 | African American |
G/G | Standard Amlodipine Efficacy |
| G/A | Reduced Amlodipine Efficacy | |||
| A/A | Poor Amlodipine Efficacy | |||
| FGF5/ SH2B3/EBF1 | rs1458038, rs3184504, rs4551053 | Caucasian | 0 efficacy allelesc | Reduced Thiazide Efficacy |
| 1 or 2 efficacy alleles | Standard Thiazide Efficacy | |||
| 3 or more efficacy alleles | Increased Thiazide Efficacy | |||
| GRK4 | rs2960306, rs1024323 | 0 copies of 65L-142Va | Increased Beta-Blocker Efficacy | |
| 1 copy of 65L-142V | Standard Beta Blocker Efficacy | |||
| 2 copies of 65L-142V | Reduced Beta Blocker Efficacy | |||
| NAT2 | rs1801279, rs1801280, rs1799930, rs1799931 | *4/*4 | Standard Hydralazine Efficacy | |
| *4/*5, *6, *7, *14b | Increased Hydralazine Efficacy | |||
| NEDD4L | rs4149601 | Caucasian | G/G | Increased Diuretic Efficacy |
| G/A | Standard Diuretic Efficacy | |||
| A/A | Reduced Diuretic Efficacy | |||
| NPHS1 | rs3814995 | Caucasian | G/G | Standard ARB Efficacy |
| G/A or A/A | Increased ARB Efficacy | |||
| SLCO1B1 | rs4149056, rs4149015 | *1/*1, *1/*21, *21/*21 | Standard Simvastatin Dosing | |
| *1/*5, *1/*17, *5/*5, | Reduced Simvastatin Dosing | |||
| *5/*17, *17/*17, *17/*21 | Reduced Simvastatin Dosing | |||
| TPMT | rs1800462, rs1800460 and rs1142345, rs1800460, rs1142345, rs1800584 | *1/*1 | Standard Azathioprine Dosing | |
| *1/*2, *1/*3, *2/*2, *2/*3, *3/*3 | Reduced Azathioprine Dosing | |||
| Reduced Azathioprine Dosing | ||||
| VASP | rs10995 | Caucasian | A/A | Standard Thiazide Efficacy |
| A/G or G/G | Increased Thiazide Efficacy | |||
| VKORC1 | rs9923231 | G/G | Standard Warfarin Sensitivity | |
| G/A or A/A | Increased Warfarin Sensitivity | |||
| YEATS4 | rs7297610 | African American |
T/T or T/C C/C | Standard Thiazide Efficacy |
| C/C | Increased Thiazide Efficacy |
*
Relevant population provided if results have only been identified in a specific population.
a
2-variant model summarized by the number of copies of the amino acid pairs.
b
An abbreviated list is provided due to the large number of possible genotyping results.
c
3-variant model summarized by the number of efficacy alleles. Efficacy alleles are as follows: rs1458038 (C), rs3184504 (C), rs4551053 (G)