Table 1.
Allele frequencies of the most studied variants of CYP3A4 and CYP3A5.
| CYP3A Allele | Reference SNP Identifier | In Vitro Effect | PK Effect in CYP3A Metabolism | Minor Allele Frequencies | |||
|---|---|---|---|---|---|---|---|
| Europeans | Latin-Americans | Africans | East Asians | ||||
| CYP3A4*22 | rs35599367 | ↓ [35,36] | ↓ | 50/1006 (4.97%) | 18/694 (2.59%) | 1/1322 (0.08%) | 0/1008 (0%) |
| CYP3A4*1B | rs2740574 | (= [46], ↓ [47]?, ↑ [48]?) | (↑?) [38], [41,42,49,50,51,52,53,54] | 28/1006 (2.78%) | 73/694 (10.52%) | 1012/1322 (76.55%) | 4/1008 (0.4%) |
| CYP3A4*1G | rs2242480 | (↑?) [59], [60,61,62,63,64,65] | 82/1006 (8.15%) | 273/694 (39.34%) | 1124/1322 (85.02%) | 270/1008 (26.79%) | |
| CYP3A4*3 | rs4986910 | (↓?) [72] | 7/1006 (0.70%) | 5/694 (0.72%) | 1/1322 (0.08%) | 0/1008 (0%) | |
| CYP3A4*20 | rs67666821 | None | ↓ | 26/64600 (0.04%)~ | 22/13290 (0.17%)~ | 3/42021 (0.01%)~ | 0/3134 (0.00%)~ |
| CYP3A5*3 | rs776746 | ↓ | ↓ | 949/1006 (94.33%) | 553/694 (79.68%) | 238/1322 (18.00%) | 719/1008 (71.33%) |
| CYP3A5*6 | rs10264272 | (↓?) [74] | (↓?) [39], [40] | 3/1006 (0.30%) | 16/694 (2.31%) | 204/1322 (15.43%) | 0/1008 (0.00%) |
| CYP3A5*7 | rs41303343 | =/↓ | (↓?) [39], [40] | 0/942 (0.00%)^ | 27/1090 (2.48%)^ | 174/2014 (8.64%)^ | 0/480 (0.00%)^ |
| CYP3A5*8 | rs55817950 | ↓ | 0/ 113648 (0.00%) | 0/ 34590 (0.00%) | 0/ 16216 (0.00%) | 0/ 18391 (0.00%) | |
| CYP3A5*9 | rs28383479 | ↓ | 0/113434(0.00%) | 0/34340(0.00%) | 0/16226(0.00%) | 2/18358 (0.01%) | |
Minor allele frequencies obtained from Ensemble Genome Browser. PK effect in CYP3A metabolism obtained from PharmVar or cited studies. ~ Data from gnomAD browser v3. ^Data from CPIC guideline for Tacrolimus and CYP3A5: https://cpicpgx.org/guidelines/guideline-for-tacrolimus-and-cyp3a5/. ? Not enough evidence.