ABCG2/BCRP dysfunction as a major cause of gout

Nucleosides, Nucleotides and Nucleic Acids

Volumn 30, Issue 12, 2011, Pages 1117-1128

  Matsuo, Hirotaka ^a   Takada, Tappei ^b   Ichida, Kimiyoshi ^c,d   Nakamura, Takahiro ^a,e   Nakayama, Akiyoshi ^a   Suzuki, Hiroshi ^b   Hosoya, Tatsuo ^d   Shinomiya, Nariyoshi ^a  

^a NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c TOKYO UNIVERSITY OF PHARMACY AND LIFE SCIENCES   (Japan)

^d JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e INST OF PHYS AND CHEMICAL RESEARCH   (Japan)

Author keywords

Common disease common variant hypothesis; FBCG analysis; Hyperuricemia gout; Translational research; Urate transporter

Indexed keywords

BREAST CANCER RESISTANCE PROTEIN; URIC ACID;

ALLELE; ARTICLE; CONTROLLED STUDY; FUNCTION BASED CLINICOGENETIC ANALYSIS; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC RISK; GENOTYPE; GOUT; HAPLOTYPE; HUMAN; HYPERURICEMIA; JAPANESE; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; QUANTITATIVE TRAIT LOCUS; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSPORT KINETICS; URATE TRANSPORT; URIC ACID BLOOD LEVEL;

AMINO ACID SEQUENCE; ATP-BINDING CASSETTE TRANSPORTERS; BIOLOGICAL TRANSPORT; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GOUT; HEK293 CELLS; HUMANS; HYPERURICEMIA; MALE; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; NEOPLASM PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; URIC ACID;

EID: 84862964905     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770.2011.633954     Document Type: Article

References (19)

1. Bleyer, A. J.; Hart, T. C. Genetic factors associated with gout and hyperuricemia. Adv. Chronic Kidney Dis. 2006, 13, 124-130.
2. Matsuo, H.; Takada, T.; Ichida, K.; Nakamura, T.; Nakayama, A.; Ikebuchi, Y.; Ito, K.; Kusanagi, Y.; Chiba, T.; Tadokoro, S.; Takada, Y.; Oikawa, Y.; Inoue, H.; Suzuki, K.; Okada, R.; Nishiyama, J.; Domoto, H.; Watanabe, S.; Fujita, M.; Morimoto, Y.; Naito, M.; Nishio, K.; Hishida, A.; Wakai, K.; Asai, Y.; Niwa, K.; Kamakura, K.; Nonoyama, S.; Sakurai, Y.; Hosoya, T.; Kanai, Y.; Suzuki, H.; Hamajima, N.; Shinomiya, N. Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population. Sci. Transl. Med. 2009, 1, 5-11.
3. Feig, D. I.; Kang, D. H.; Johnson, R. J. Uric acid and cardiovascular risk. N. Engl. J. Med. 2008, 359, 1811-1821.
4. Li, S.; Sanna, S.; Maschio, A.; Busonero, F.; Usala, G.; Mulas, A.; Lai, S.; Dei, M.; Orru, M.; Albai, G.; Bandinelli, S.; Schlessinger, D.; Lakatta, E.; Scuteri, A.; Najjar, S. S.; Guralnik, J.; Naitza, S.; Crisponi, L.; Cao, A.; Abecasis, G.; Ferrucci, L.; Uda, M.; Chen, W. M.; Nagaraja, R. The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts. PLoS Genet. 2007, 3, e194.
5. Döring, A.; Gieger, C.; Mehta, D.; Gohlke, H.; Prokisch, H.; Coassin, S.; Fischer, G.; Henke, K.; Klopp, N.; Kronenberg, F.; Paulweber, B.; Pfeufer, A.; Rosskopf, D.; Volzke, H.; Illig, T.; Meitinger, T.; Wichmann, H. E.; Meisinger, C. SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. Nat. Genet. 2008, 40, 430-436. (Pubitemid 351454014)
6. Vitart, V.; Rudan, I.; Hayward, C.; Gray, N. K.; Floyd, J.; Palmer, C. N.; Knott, S. A.; Kolcic, I.; Polasek, O.; Graessler, J.; Wilson, J. F.; Marinaki, A.; Riches, P. L.; Shu, X.; Janicijevic, B.; Smolej-Narancic, N.; Gorgoni, B.; Morgan, J.; Campbell, S.; Biloglav, Z.; Barac-Lauc, L.; Pericic, M.; Klaric, I. M.; Zgaga, L.; Skaric-Juric, T.; Wild, S. H.; Richardson, W. A.; Hohenstein, P.; Kimber, C. H.; Tenesa, A.; Donnelly, L. A.; Fairbanks, L. D.; Aringer, M.; McKeigue, P. M.; Ralston, S. H.; Morris, A. D.; Rudan, P.; Hastie, N. D.; Campbell, H.; Wright, A. F. SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. Nat. Genet. 2008, 40, 437-442. (Pubitemid 351450879)
7. McArdle, P. F.; Parsa, A.; Chang, Y. P.; Weir, M. R.; O'Connell, J. R.; Mitchell, B. D.; Shuldiner, A. R. Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish. Arthritis Rheum. 2008, 58, 2874-2881.
8. Enomoto, A.; Kimura, H.; Chairoungdua, A.; Shigeta, Y.; Jutabha, P.; Cha, S. H.; Hosoyamada, M.; Takeda, M.; Sekine, T.; Igarashi, T.; Matsuo, H.; Kikuchi, Y.; Oda, T.; Ichida, K.; Hosoya, T.; Shimokata, K.; Niwa, T.; Kanai, Y.; Endou, H. Molecular identification of a renal urate anion exchanger that regulates blood urate levels. Nature 2002, 417, 447-452. (Pubitemid 34563537)
9. Matsuo, H.; Chiba, T.; Nagamori, S.; Nakayama, A.; Domoto, H.; Phetdee, K.; Wiriyasermkul, P.; Kikuchi, Y.; Oda, T.; Nishiyama, J.; Nakamura, T.; Morimoto, Y.; Kamakura, K.; Sakurai, Y.; Nonoyama, S.; Kanai, Y.; Shinomiya, N. Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. Am. J. Hum. Genet. 2008, 83, 744-751.
10. Dehghan, A.; Köttgen, A.; Yang, Q.; Hwang, S. J.; Kao, W. L.; Rivadeneira, F.; Boerwinkle, E.; Levy, D.; Hofman, A.; Astor, B. C.; Benjamin, E. J.; van Duijn, C. M.; Witteman, J. C.; Coresh, J.; Fox, C. S. Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. Lancet 2008, 372, 1953-1961.
11. Kolz, M.; Johnson, T.; Sanna, S.; Teumer, A.; Vitart, V.; Perola, M.; Mangino, M.; Albrecht, E.; Wallace, C.; Farrall, M.; Johansson, A.; Nyholt, D. R.; Aulchenko, Y.; Beckmann, J. S.; Bergmann, S.; Bochud, M.; Brown, M.; Campbell, H.; Connell, J.; Dominiczak, A.; Homuth, G.; Lamina, C.; McCarthy, M. I.; Meitinger, T.; Mooser, V.; Munroe, P.; Nauck, M.; Peden, J.; Prokisch, H.; Salo, P.; Salomaa, V.; Samani, N. J.; Schlessinger, D.; Uda, M.; Volker, U.; Waeber, G.; Waterworth, D.; Wang-Sattler, R.; Wright, A. F.; Adamski, J.; Whitfield, J. B.; Gyllensten, U.; Wilson, J. F.; Rudan, I.; Pramstaller, P.; Watkins, H.; Doering, A.; Wichmann, H. E.; Spector, T. D.; Peltonen, L.; Volzke, H.; Nagaraja, R.; Vollenweider, P.; Caulfield, M.; Illig, T.; Gieger, C. Meta-analysis of 28, 141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet. 2009, 5, e1000504.
12. Kamatani, Y.; Matsuda, K.; Okada, Y.; Kubo, M.; Hosono, N.; Daigo, Y.; Nakamura, Y.; Kamatani, N. Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat. Genet. 2010, 42, 210-215.
13. Yang, Q.; Köttgen, A.; Dehghan, A.; Smith, A. V.; Glazer, N. L.; Chen, M. H.; Chasman, D. I.; Aspelund, T.; Eiriksdottir, G.; Harris, T. B.; Launer, L.; Nalls, M.; Hernandez, D.; Arking, D. E.; Boerwinkle, E.; Grove, M. L.; Li, M.; Linda Kao, W. H.; Chonchol, M.; Haritunians, T.; Li, G.; Lumley, T.; Psaty, B. M.; Shlipak, M.; Hwang, S. J.; Larson, M. G.; O'Donnell, C. J.; Upadhyay, A.; van Duijn, C. M.; Hofman, A.; Rivadeneira, F.; Stricker, B.; Uitterlinden, A. G.; Pare, G.; Parker, A. N.; Ridker, P. M.; Siscovick, D. S.; Gudnason, V.; Witteman, J. C.; Fox, C. S.; Coresh, J. Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. Circ. Cardiovasc. Genet. 2010, 3, 523-530.
14. Cheng, L. S.; Chiang, S. L.; Tu, H. P.; Chang, S. J.; Wang, T. N.; Ko, A. M.; Chakraborty, R.; Ko, Y. C. Genomewide scan for gout in Taiwanese aborigines reveals linkage to chromosome 4q25. Am. J. Hum. Genet. 2004, 75, 498-503. (Pubitemid 39115318)
15. de Wolf, C.; Jansen, R.; Yamaguchi, H.; de Haas, M.; van de Wetering, K.; Wijnholds, J.; Beijnen, J.; Borst, P. Contribution of the drug transporter ABCG2 (breast cancer resistance protein) to resistance against anticancer nucleosides. Mol. Cancer. Ther. 2008, 7, 3092-3102.
16. Kondo, C.; Suzuki, H.; Itoda, M.; Ozawa, S.; Sawada, J.; Kobayashi, D.; Ieiri, I.; Mine, K.; Ohtsubo, K.; Sugiyama, Y. Functional analysis of SNPs variants of BCRP/ABCG2. Pharm. Res. 2004, 21, 1895-1903. (Pubitemid 39390103)
17. Maekawa, K.; Itoda, M.; Sai, K.; Saito, Y.; Kaniwa, N.; Shirao, K.; Hamaguchi, T.; Kunitoh, H.; Yamamoto, N.; Tamura, T.; Minami, H.; Kubota, K.; Ohtsu, A.; Yoshida, T.; Saijo, N.; Kamatani, N.; Ozawa, S.; Sawada, J. Genetic variation and haplotype structure of the ABC transporter gene ABCG2 in a Japanese population. Drug Metab. Pharmacokinet. 2006, 21, 109-121.
18. Caulfield, M. J.; Munroe, P. B.; O'Neill, D.; Witkowska, K.; Charchar, F. J.; Doblado, M.; Evans, S.; Eyheramendy, S.; Onipinla, A.; Howard, P.; Shaw-Hawkins, S.; Dobson, R. J.; Wallace, C.; Newhouse, S. J.; Brown, M.; Connell, J. M.; Dominiczak, A.; Farrall, M.; Lathrop, G. M.; Samani, N. J.; Kumari, M.; Marmot, M.; Brunner, E.; Chambers, J.; Elliott, P.; Kooner, J.; Laan, M.; Org, E.; Veldre, G.; Viigimaa, M.; Cappuccio, F. P.; Ji, C.; Iacone, R.; Strazzullo, P.; Moley, K. H.; Cheeseman, C. SLC2A9 is a high-capacity urate transporter in humans. PLoS Med. 2008, 5, e197.
19. Woodward, O. M.; Köttgen, A.; Coresh, J.; Boerwinkle, E.; Guggino, W. B.; Köttgen, M. Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout. Proc. Natl. Acad. Sci. U. S. A. 2009, 106, 10338-10342.