TABLE 3.
Allele frequencies of functionally relevant drug transporter allelesa
| Allele | Defining variant(s) | Variant type (mutation[s]) | Allele frequency (%) |
Functional consequence | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Gabon | Africa | ESN | GWD | LWK | MSL | YRI | Global | ||||
| ABCB1 (MDR1, Pgp) | rs2032582 | Missense (A893S) | 0 | 8.5 | 0 | 0.4 | 1.5 | 1.8 | 0 | 33.4 | Controversial |
| rs1128503 | Synonymous (G412) | 10.4 | 13.6 | 10.1 | 16.4 | 11.1 | 13.5 | 14.4 | 41.6 | Controversial | |
| rs1045642 | Synonymous (I1145) | 13.5 | 15 | 11.6 | 19 | 14.1 | 14.7 | 12.5 | 39.5 | Controversial | |
| ABCG2 (BCRP) | rs2231137 | Missense (V12M) | 7.3 | 6.3 | 5.1 | 4 | 11.6 | 8.8 | 5.6 | 15.8 | Neutral |
| SLCO1B1 (OATP1B1) | |||||||||||
| *1A | None | None | 13.5 | Neutral | |||||||
| *1B | rs2306283 | Missense (N130D) | 53.1 | 21.9 | 22.7 | 27 | 26.8 | 25.3 | 16.7 | 19.9 | Substrate specific |
| *14 | rs11045819, rs2306283 | Missense (P155T, N130D) | 3.1 | 1.7 | 1.5 | 0.5 | 1 | 1.2 | 3.7 | <0.1 | Unknown |
| *15 | rs4149056, rs2306283 | Missense (V174A, N130D) | 2.1 | 1.4 | 0 | 0 | 2 | 0 | <0.1 | 7.8 | Decreased |
| *20 | rs34671512, rs2306283, rs2291075 | Missense (L643F, N130D) | 8.3 | 5.8 | 7.6 | 4.9 | 4 | 5.3 | 5.6 | 3.3 | Unknown |
| *27 | rs59113707, rs2306283 | Missense (F400L, N130D) | 8.3 | 2.9 | 5.1 | 2.7 | 0 | 2.4 | 4.2 | 0.8 | Unknown |
| *31 | rs59502379, rs2306283 | Missense (G488A, N130D) | 4.2 | 1.7 | 1.5 | 0.5 | 1 | 1.2 | 3.7 | 5.6 | Unknown |
| *32 | rs11045852, rs2306283, rs11045819 | Missense (I245V, N130D, P155T) | 1 | 2.2 | 3.5 | <0.1 | 0 | <0.1 | 4.2 | <0.1 | Unknown |
| Novel alleles | Various combinations | 6.3 | NA | Unknown | |||||||
| SLC22A1 (OCT1) | |||||||||||
| *1 | Noneb | 58.3 | Neutral | ||||||||
| *2 | rs202220802 | Indel (M420del) | 4.2 | 4.5 | 4.6 | 3.1 | 3 | 6.5 | 1.4 | 11.8 | Inactive |
| *7 | rs34447885 | Missense (S14F) | 4.2 | 1.7 | 1.5 | 1.8 | 2.6 | 1.8 | 1.4 | 0.7 | Inactive |
| *8 | rs35270274 | Missense (R488M) | 3.1 | 3.4 | 4 | 1.3 | 5.1 | 2.4 | 5.7 | 1 | Neutral |
| rs34295611 | Missense (V461I) | 2.1 | 1.1 | 0 | 0 | 2 | 0 | 3.3 | 0.3 | Unknown | |
| rs143522800 | Missense (V400L) | 1 | 0.3 | 0 | 0 | 1.5 | 0 | 0 | <0.1 | Unknown | |
| rs628031 | Missense (M408L) | 1 | <0.1 | 0 | 0 | 0 | 0 | 0 | <0.1 | Unknown | |
| rs34570655 | Missense (L23V) | 1 | 0.2 | 0 | 0 | 0.5 | 0 | 0 | <0.1 | Unknown | |
| rs35546288 | Missense (L85P) | 1 | 0.5 | 0.5 | 1.8 | 0 | 0.6 | 0 | 0.1 | Unknown | |
| rs78899680 | Missense (V519P) | 4.2 | 3 | 4.6 | 0.4 | 2.5 | 4.8 | 4.6 | 0.8 | Unknown | |
| rs41267797 | Missense (V464I) | 18.8 | 19.5 | 21.7 | 23.5 | 18.7 | 18.2 | 19.9 | 6.3 | Unknown | |
a
All star alleles identified in the Gabonese population are shown. YRI, Yoruba in Ibadan in Nigeria; LWK, Luhya in Webuye in Kenya; GWD, Gambians in Western Divisions in the Gambia; MSL, Mende in Sierra Leone; ESN, Esan in Nigeria.
b
Variants defining SLC22A1*1 suballeles (P160L, P341L, R342H, and M408V) are not included.