Table 4.
Genetic variants in human organic anion transporters of the SLC22A family.
| Transporter (Gene) | Genetic Polymorphism | Amino Acid Change | Effect on Expression | Activity | Effect on Drug Disposition |
|---|---|---|---|---|---|
| OAT1 (SLC22A6) | c.149G>A/C | R50H | = | Higher affinity for adefovir, cidofovir and tenofovir | No effect on renal clearance |
| c.1361G>A | R454Q | = | Loss of activity | No effect on renal clearance | |
| OAT2 (SLC22A7) | c.492_493insTCCCAG | E131_W132insSQ | = | Lost | Not investigated |
| c.1592 + 206A>G | – | ↑ | Higher cell uptake | Anthracycline-induced cardiotoxicity and severe toxicity to capecitabine | |
| OAT3 (SLC22A8) | c.445C>A | R149S | = | Lost | Not investigated |
| c.715C>T | N239X | = | Lost | Not investigated | |
| c.779T>G | I260R | = | Lost | Not investigated | |
| c.829C>T | R277W | = | Reduced | Not investigated | |
| c.913A>T | I305F | = | Reduced | Lower renal clearance of cefotaxime | |
| OAT4 (SLC22A11) | c.86T>C | L29P | = | Lower renal clearance of torsemide | |
| c.142C>T | R48Y | = | Reduced | ||
| c.464T>G | V155G | = | Reduced | ||
| c.1175C>T | T392I | = | Reduced | ||
| OAT7 (SLC22A9) | c.268C>T | R90C | = | Reduced | Reduced hepatic uptake of pravastatin |
| c.1298C>G | T433R | = | Reduced | ||
| c.1298C>T | T433M | = | Reduced | ||
| c.1437A>G | I479M | = | Reduced | ||
| URAT1 (SLC22A12) | c.269G>A | R90H | = | Lost | Lower renal clearance of drugs substrates of the transporter |
| c.412G>A | V138M | = | Lost | ||
| c.490G>A | G164S | = | Reduced | ||
| c.650C>T | T217M | = | Lost | ||
| c.774G>A | W258X | = | Lost | ||
| c.889C>T | Q297X | = | Lost | ||
| c.894G>T | E298D | = | Lost | ||
| c.1145A>T | Q382L | = | Reduced | ||
| c.1289T>C | M430T | = | Reduced | ||
| c.1639_1643del | V547Kfs | = | Lost | ||
| IVS2 + 1G>A | – | Aberrant splicing | Lost |