Variation and evolution of the ABC transporter genes ABCB1, ABCC1, ABCG2, ABCG5 and ABCG8: Implication for pharmacogenetics and disease

Drug Metabolism and Drug Interactions

Volumn 26, Issue 4, 2011, Pages 169-179

  Silverton, Latoya ^a   Dean, Michael ^a   Moitra, Karobi ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

Author keywords

ABC transporters; evolution; pharmacogenetics

Indexed keywords

ABC TRANSPORTER; ANTHRACYCLINE; BREAST CANCER RESISTANCE PROTEIN; CAMPTOTHECIN; CISPLATIN; CYCLOPHOSPHAMIDE; DAUNORUBICIN; DOXORUBICIN; EPIPODOPHYLLOTOXIN; GENE PRODUCT; GLYCOPROTEIN GP 160; GLYCOPROTEIN P; MITOXANTRONE; MULTIDRUG RESISTANCE PROTEIN 1; PROTEIN ADENOSINE TRIPHOSPHATE BINDING CASSETTE TRANSPORTER C1; PROTEIN ADENOSINE TRIPHOSPHATE BINDING CASSETTE TRANSPORTER G5; PROTEIN ADENOSINE TRIPHOSPHATE BINDING CASSETTE TRANSPORTER G8; TOPOTECAN; UNCLASSIFIED DRUG; VINCA ALKALOID;

ALZHEIMER DISEASE; CHRONIC OBSTRUCTIVE LUNG DISEASE; CIONA INTESTINALIS; CORONARY ARTERY DISEASE; CYSTIC FIBROSIS; DISEASE PREDISPOSITION; DNA REPAIR; DNA REPLICATION; DRUG DISPOSITION; DRUG RESPONSE; ENTERITIS; GALLSTONE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE FUNCTION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GOUT; HUMAN; MALE INFERTILITY; NEOPLASM; NEUROBLASTOMA; NONHUMAN; REVIEW; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; EVOLUTION, MOLECULAR; GENETIC VARIATION; HUMANS; LIPOPROTEINS; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; NEOPLASM PROTEINS; P-GLYCOPROTEIN; PHARMACOGENETICS;

EID: 83655181376     PISSN: 07925077     EISSN: None     Source Type: Journal    
DOI: 10.1515/DMDI.2011.027     Document Type: Review

References (49)

1. Fung KL, Gottesman MM. A synonymous polymorphism in a common MDR1 (ABCB1) haplotype shapes protein function. Biochim Biophys Acta 2009;1794:860-71.
2. Gottesman MM, Ambudkar SV. Overview: ABC transporters and human disease. J Bioenerg Biomembr 2001;33:453-8. (Pubitemid 34052570)
3. Subbiah MT. Personalizing our diet to improve our health: the potential impact of nutrigenomics. Pers Med 2007;4:233-6. (Pubitemid 47354510)
4. Wang Z, Chong SS, Lee CG. Characterization of single nucleotide polymorphisms in 13 members of the ABC drug transporter genes in three different populations. Open Pharmacol J 2007;1:1-12.
5. Iida A, Saito S, Sekine A, Mishima C, Kitamura Y, Kondo K, et al. Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8. J Hum Genet 2002;47:285-310.
6. Yee SW, Chen L, Giacomini KM. Pharmacogenomics of membrane transporters: past, present and future. Pharmacogenomics 2010;11:475-9.
7. Moitra K, Dean M. Evolution of ABC transporters by gene duplication and their role in human disease. Biol Chem 2011;392: 29-37.
8. Letourneau IJ, Deeley RG, Cole SP. Functional characterization of non-synonymous single nucleotide polymorphisms in the gene encoding human multidrug resistance protein 1 (MRP1/ABCC1). Pharmacogenet Genom 2005;15:647-57. (Pubitemid 41113337)
9. Honjo Y, Hrycyna CA, Yan QW, Medina-Perez WY, Robey RW, van de Laar A, et al. Acquired mutations in the MXR/BCRP/ABCP gene alter substrate specifi city in MXR/BCRP/ABCPoverexpressing cells. Cancer Res 2001;61:6635-9. (Pubitemid 32896477)
10. Kroetz DL, Yee SW, Giacomini KM. The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology. Clin Pharmacol Ther 2010;87:109-16.
11. Annilo T, Chen ZQ, Shulenin S, Costantino J, Thomas L, Lou H, et al. Evolution of the vertebrate ABC gene family: analysis of gene birth and death. Genomics 2006;88:1-11. (Pubitemid 43851178)
12. Ansermot N, Rebsamen M, Chabert J, Fathi M, Gex-Fabry M, Daali Y, et al. Infl uence of ABCB1 gene polymorphisms and P-glycoprotein activity on cyclosporine pharmacokinetics in peripheral blood mononuclear cells in healthy volunteers. Drug Metab Lett [Controlled Clinical Trial Research Support, Non- U.S. Gov ' t] 2008;2:76-82. (Pubitemid 351983779)
13. Wang LL, Liu YH, Meng LL, Li CG, Zhou SF. Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes. Basic Clin Pharmacol Toxicol 2011;108:94-114.
14. Sauna ZE, Kimchi-Sarfaty C, Ambudkar SV, Gottesman MM. Silent polymorphisms speak: how they affect pharmacogenomics and the treatment of cancer. Cancer Res 2007;67:9609-12. (Pubitemid 47621204)
15. Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE, Calcagno AM, Ambudkar SV, et al. A "silent" polymorphism in the MDR1 gene changes substrate specifi city. Science 2007;315:525-8. (Pubitemid 46175758)
16. Haerian BS, Lim KS, Tan CT, Raymond AA, Mohamed Z. Association of ABCB1 gene polymorphisms and their haplotypes with response to antiepileptic drugs: a systematic review and meta-analysis. Pharmacogenomics 2011;12:713-25.
17. Meng H, Guo G, Ren J, Zhou H, Ge Y, Guo Y. Effects of ABCB1 polymorphisms on plasma carbamazepine concentrations and pharmacoresistance in Chinese patients with epilepsy. Epilepsy Behav 2011;21:27-30.
18. Szoeke C, Sills GJ, Kwan P, Petrovski S, Newton M, Hitiris N, et al. Multidrug-resistant genotype (ABCB1) and seizure recurrence in newly treated epilepsy: data from international pharmacogenetic cohorts. Epilepsia 2009;50:1689-96.
19. Seo T, Ishitsu T, Ueda N, Nakada N, Yurube K, Ueda K, et al. ABCB1 polymorphisms infl uence the response to antiepileptic drugs in Japanese epilepsy patients. Pharmacogenomics 2006;7:551-61. (Pubitemid 43891412)
20. Hoffmeyer S, Burk O, von Richter O, Arnold HP, Brockmoller J, Johne A, et al. Functional polymorphisms of the human multidrug- resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo. Proc Natl Acad Sci USA 2000;97:3473-8. (Pubitemid 30183327)
21. Bournissen FG, Moretti ME, Juurlink DN, Koren G, Walker M, Finkelstein Y. Polymorphism of the MDR1/ABCB1 C3435T drug-transporter and resistance to anticonvulsant drugs: a metaanalysis. Epilepsia 2009;50:898-903.
22. Onnie CM, Fisher SA, Pattni R, Sanderson J, Forbes A, Lewis CM, et al. Associations of allelic variants of the multidrug resistance gene (ABCB1 or MDR1) and infl ammatory bowel disease and their effects on disease behavior: a case-control and metaanalysis study. Infl amm Bowel Dis 2006;12:263-71.
23. Kohen R, Shofer JB, Korvatska O, Petrie EC, Wang LY, Schellenberg GD, et al. ABCB1 genotype and CSF {beta}-amyloid in alzheimer disease. J Geriatr Psychiatry Neurol 2011;24:63-6.
24. Siedlinski M, Boezen HM, Boer JM, Smit HA, Postma DS. ABCC1 polymorphisms contribute to level and decline of lung function in two population-based cohorts. Pharmacogenet Genom 2009;19:675-84.
25. Conseil G, Deeley RG, Cole SP. Polymorphisms of MRP1 (ABCC1) and related ATP-dependent drug transporters. Pharmacogenet Genom 2005;15:523-33. (Pubitemid 41044238)
26. Pajic M, Murray J, Marshall GM, Cole SP, Norris MD, Haber M. ABCC1 G2012T single nucleotide polymorphism is associated with patient outcome in primary neuroblastoma and altered stability of the ABCC1 gene transcript. Pharmacogenet Genom 2011;21:270-9.
27. Oselin K, Mrozikiewicz PM, Gaikovitch E, Pahkla R, Roots I. Frequency of MRP1 genetic polymorphisms and their functional signifi cance in Caucasians: detection of a novel mutation G816A in the human MRP1 gene. Eur J Clin Pharmacol 2003;59:347-50. (Pubitemid 37100355)
28. Maffi cini A, Ortombina M, Sermet-Gaudelius I, Lebecque P, Leal T, Iansa P, et al. Impact of polymorphism of multidrug resistance-associated protein 1 (ABCC1) gene on the severity of cystic fi brosis. J Cyst Fibros 2011;10:228-33.
29. Jonker JW, Smit JW, Brinkhuis RF, Maliepaard M, Beijnen JH, Schellens JH, et al. Role of breast cancer resistance protein in the bioavailability and fetal penetration of topotecan. J Natl Cancer Inst 2000;92:1651-6.
30. Sparreboom A, Gelderblom H, Marsh S, Ahluwalia R, Obach R, Principe P, et al. Difl omotecan pharmacokinetics in relation to ABCG2 421C > A genotype. Clin Pharmacol Ther 2004;76:38-44. (Pubitemid 38844732)
31. Honjo Y, Morisaki K, Huff LM, Robey RW, Hung J, Dean M, et al. Single-nucleotide polymorphism (SNP) analysis in the ABC half-transporter ABCG2 (MXR/BCRP/ABCP1). Cancer Biol Ther 2002;1:696-702.
32. Choudhuri S, Klaassen CD. Structure, function, expression, genomic organization, and single nucleotide polymorphisms of human ABCB1 (MDR1), ABCC (MRP), and ABCG2 (BCRP) effl ux transporters. Int J Toxicol 2006;25:231-59. (Pubitemid 44034685)
33. Zamber CP, Lamba JK, Yasuda K, Farnum J, Thummel K, Schuetz JD, et al. Natural allelic variants of breast cancer resistance protein (BCRP) and their relationship to BCRP expression in human intestine. Pharmacogenetics 2003;13:19-28. (Pubitemid 36135683)
34. Morisaki K, Robey RW, Ozvegy-Laczka C, Honjo Y, Polgar O, Steadman K, et al. Single nucleotide polymorphisms modify the transporter activity of ABCG2. Cancer Chemother Pharmacol 2005;56:161-72. (Pubitemid 40884271)
35. Mizuarai S, Aozasa N, Kotani H. Single nucleotide polymorphisms result in impaired membrane localization and reduced atpase activity in multidrug transporter ABCG2. Int J Cancer 2004;109:238-46. (Pubitemid 38240926)
36. Dehghan A, Kottgen A, Yang Q, Hwang SJ, Kao WL, Rivadeneira F, et al. Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. Lancet 2008;372:1953-61.
37. Yamagishi K, Tanigawa T, Kitamura A, Kottgen A, Folsom AR, Iso H. The rs2231142 variant of the ABCG2 gene is associated with uric acid levels and gout among Japanese people. Rheumatology (Oxford) 2010;49:1461-5.
38. Phipps-Green AJ, Hollis-Moffatt JE, Dalbeth N, Merriman ME, Topless R, Gow PJ, et al. A strong role for the ABCG2 gene in susceptibility to gout in New Zealand Pacifi c Island and Caucasian, but not Maori, case and control sample sets. Hum Mol Genet 2010;19:4813-9.
39. Woodward OM, Kottgen A, Coresh J, Boerwinkle E, Guggino WB, Kottgen M. Identifi cation of a urate transporter, ABCG2, with a common functional polymorphism causing gout. Proc Natl Acad Sci USA 2009;106:10338-42.
40. Wang B, Miao Z, Liu S, Wang J, Zhou S, Han L, et al. Genetic analysis of ABCG2 gene C421A polymorphism with gout disease in Chinese Han male population. Hum Genet [Research Support, Non-U.S. Gov ' t] 2010;127:245-6.
41. Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science 2000;290:1771-5. (Pubitemid 32004809)
42. Weggemans RM, Zock PL, Tai ES, Ordovas JM, Molhuizen HO, Katan MB. ATP binding cassette G5 C1950G polymorphism may affect blood cholesterol concentrations in humans. Clin Genet 2002;62:226-9. (Pubitemid 36372729)
43. Hubacek JA, Berge KE, Stefkova J, Pitha J, Skodova Z, Lanska V, et al. Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels. Physiol Res 2004;53:395-401. (Pubitemid 39094827)
44. Siddapuram SP, Mahurkar S, Duvvuru NR, Mitnala S, Guduru VR, Rebala P, et al. Hepatic cholesterol transporter ABCG8 polymorphisms in gallstone disease in an Indian population. J Gastroenterol Hepatol 2010;25:1093-8.
45. Berge KE, von Bergmann K, Lutjohann D, Guerra R, Grundy SM, Hobbs HH, et al. Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8. J Lipid Res 2002;43:486-94. (Pubitemid 34252279)
46. Jakulj L, Vissers MN, Tanck MW, Hutten BA, Stellaard F, Kastelein JJ, et al. ABCG5/G8 polymorphisms and markers of cholesterol metabolism: systematic review and meta-analysis. J Lipid Res 2010;51:3016-23.
47. Subbiah MT. Understanding the nutrigenomic defi nitions and concepts at the food-genome junction. Omics 2008;12: 229-35. (Pubitemid 352777349)
48. Ferguson LR, Shelling AN, Browning BL, Huebner C, Petermann I. Genes, diet and infl ammatory bowel disease. Mutat Res 2007;622:70-83. (Pubitemid 47214578)
49. Wolf SJ, Bachtiar M, Wang J, Sim TS, Chong SS, Lee CG. An update on ABCB1 pharmacogenetics: insights from a 3D model into the location and evolutionary conservation of residues corresponding to SNPs associated with drug pharmacokinetics. Pharmacogenomics J 2011;11:315-25.