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PMID: 16153397
Ho RH, Kim RB
Transporters and drug therapy: implications for drug disposition and disease.
Clin Pharmacol Ther. 2005 Sep;78(3):260-77.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
102
ABCA1 p.Gly1201Ala
X
ABCA1 p.Gly1201Ala 16153397:102:1573
status:
NEW
view ABCA1 p.Gly1201Ala details
Genetic polymorphisms in drug transporters Gene symbol Transporter Polymorphism Allele frequency Potential effects References ABCB1 MDR1 C3435T 54% White Susceptibility to renal tumors 65 26% Black Susceptibility to ulcerative colitis 67 53% Asian American Susceptibility to Parkinson`s disease 66 Response in refractory epilepsy 68 Overall survival in acute myeloid leukemia 135 CD4 response in HIV-1 therapy 69 Susceptibility to childhood acute lymphoblastic leukemia 136 Increased cyclosporine clearance in renal transplant patients 137 Smaller reduction in low-density lipoprotein cholesterol in response to atorvastatin treatment 138 MDR1 G2677T 46% White Lower fexofenadine plasma levels 139 6.5% Black Healthy volunteers Reduced risk of chronic renal dysfunction with calcineurin inhibitors after liver transplantation 140 Susceptibility to inflammatory bowel disease 141 ABCA1 ABCA1 G655A 25% White Decreased triglyceride levels, increased high-density lipoprotein plasma levels, decreased risk of atherosclerosis 118 A5397C Rare Low levels of high-density lipoprotein cholesterol 124, 125 ABCG2 BCRP C421A 46% Japanese Decreased protein expression and increased sensitivity to irinotecan (SN-38), mitoxantrone, and topotecan in vitro 142 14% White Increased plasma levels of diflomotecan in adult cancer patients 143 SLC22A1 OCT1 C181T 7.2% White Decreased uptake of MPP in vitro 76 5.6% Hispanic T262C 0.6% White Decreased uptake of MPP in vitro 77 Decreased uptake of serotonin in vitro C1022T 8.2% Black Decreased uptake of MPP in vitro 76 11.7% Asian American
G1201A
3.2% White Decreased uptake of serotonin in vitro 76, 77 Decreased uptake of MPP in vitro G1393A 4% White Decreased uptake of MPP in vitro 76 SLC22A2 OCT2 G495A 1% Black Decreased uptake of MPP in vitro 144 C1198T 1.5% Black Decreased uptake of MPP in vitro 144 SLCO1B1 OATP1B1 T521C 14% White Increased pravastatin plasma levels 79, 145, 146 16% Japanese Decreased steroid conjugate uptake in vitro 78 G1463C 9% Black Decreased steroid conjugate uptake in vitro 78 SLCO1B3 OATP1B3 G1564T 1.9% White Impaired protein trafficking to membrane, decreased bile acid transport in vitro 147 SLCO2B1 OATP2B1 C1457T 30.9% Japanese Decreased transport estrone sulfate in vitro 80 MPP, 1-Methyl-4-phenylpyridinium.
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