|
e12/C1236T |
rs1128503 |
G412G |
Increased exposure to irinotecan in cancer patients
Altered ABCB1 expression in 3t3 isogenic fibroblasts
Lower ABCB1 expression |
36
33
34
|
ABCB1 |
e21/G2677T
e21/G2677A |
rs2032582 |
A893S
A893T |
Less placental trophoblast ABCB1 expression in T and A carriers |
29 |
|
e26/C3435T |
rs1045642 |
I1145I |
Alteration in the rate of translation
Lower ABCB1 expression
Affects mRNA stability |
37
34
38
|
ABCC1 |
5'FR/G-260C |
rs504348 |
5′UTR |
Evidence of recent positive selection in European-Americans |
39 |
ABCC2 |
e1/C-24T |
rs717620 |
−24C>T |
Influenced ABCC2 mRNA expression in normal kidney cortex and liver samples but not placenta
Evidence of recent positive selection |
22, 30, 39
39
|
|
e10/G1249A |
rs2273697 |
V471I |
Decreased ABCC2 mRNA levels in preterm placentas
Evidence of recent positive selection |
22
39
|
ABCG2 |
e5/C421A |
rs2231142 |
Q141K |
Reduced ABCG2 activity
Decreased ABCG2 protein level in placenta
Evidence of recent positive selection
Substrate recognition and/or transport of drugs |
40
41
39
42
|
|
e2/G34A |
rs2231137 |
V12M |
Reduced ABCG2 activity
Substrate recognition and/or transport of drugs |
40
42
|
|
I9/T-357C |
rs2054576 |
Intron |
Alteration of pre-mRNA splicing |
43 |