ABCG2 dysfunction increases the risk of renal overload hyperuricemia

Nucleosides, Nucleotides and Nucleic Acids

Volumn 33, Issue 4-6, 2014, Pages 266-274

  Matsuo, Hirotaka ^a   Takada, Tappei ^b   Nakayama, Akiyoshi ^a   Shimizu, Toru ^c   Sakiyama, Masayuki ^a   Shimizu, Seiko ^a   Chiba, Toshinori ^a   Nakashima, Hiroshi ^a   Nakamura, Takahiro ^a   Takada, Yuzo ^a   Sakurai, Yutaka ^a   Hosoya, Tatsuo ^d   Shinomiya, Nariyoshi ^a   Ichida, Kimiyoshi ^d,e  

^a NATIONAL DEFENSE MEDICAL COLLEGE   (Japan)

^b UNIVERSITY OF TOKYO HOSPITAL   (Japan)

^c Midorigaoka Hospital   (Japan)

^d JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

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

Author keywords

ABC transporters; extra renal underexcretion type; hyperuricemia gout; renal urate overload

Indexed keywords

BREAST CANCER RESISTANCE PROTEIN; GENOMIC DNA; URATE; ABC TRANSPORTER; ABCG2 PROTEIN, HUMAN; TUMOR PROTEIN; URIC ACID;

ARTICLE; DISEASE ASSOCIATION; GENETIC ANALYSIS; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPERURICEMIA; MAJOR CLINICAL STUDY; MALE; OUTPATIENT; PATIENT RISK; RENAL SYSTEM PARAMETERS; RISK ASSESSMENT; RISK FACTOR; URIC ACID BLOOD LEVEL; URIC ACID URINE LEVEL; URINARY EXCRETION; BLOOD; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETICS; KIDNEY; METABOLISM;

ATP-BINDING CASSETTE TRANSPORTERS; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; HYPERURICEMIA; KIDNEY; MALE; NEOPLASM PROTEINS; URIC ACID;

EID: 84903217909     PISSN: 15257770     EISSN: 15322335     Source Type: Journal    
DOI: 10.1080/15257770.2013.866679     Document Type: Article

References (15)

1. Wu, X.W.; Lee, C.C.; Muzny, D.M.; Caskey, C.T. Urate oxidase: primary structure and evolutionary implications. Proc. Natl. Acad. Sci. U. S. A. 1989, 86, 9412-9416.
2. 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.
3. 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.
4. 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, 5ra11.
5. Sica, D.A.; Schoolwerth, A. Elements of normal renal structure and function: Renal handling of organic anions and cations. in Brenner and Rector's The Kidney, 7 ed., ed. B.M. Brenner., Saunders, Philadelphia, 2004, pp. 645-649.
6. Boss, G.R.; Seegmiller, J.E. Hyperuricemia and gout. Classification, complications and management. N. Engl. J. Med. 1979, 300, 1459-1468.
7. Wortmann, R.L. Disorders of purine and pyrimidine metabolism. in Harrison's Principles of Internal Medicine, 17th ed., eds. A.S. Fauci., E. Braunwald., D. Kasper., S.L. Hauser., D.L. Long., J.L. Jameson., J. Loscalzo., McGraw-Hill, New York, NY, 2008, pp. 2444-2449.
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.
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. Wallace, S.L.; Robinson, H.; Masi, A.T.; Decker, J.L.; McCarty, D.J.; Yu, T.F. Preliminary criteria for the classification of the acute arthritis of primary gout. Arthritis Rheum. 1977, 20, 895-900.
11. The guideline revising committee of the Japanese Society of Gout and Nucleic Acid Metabolism. Diagnosis of hyperuricemia and gout. in Guideline for the management of hyperuricemia and gout, 2nd ed., The guideline revising committee of the Japanese Society of Gout and Nucleic Acid Metabolism, Medical Review, Osaka, 2010, pp. 60-72.
12. Matsuo, H.; Ichida, K.; Takada, T.; Nakayama, A.; Nakashima, H.; Nakamura, T.; Kawamura, Y.; Takada, Y.; Yamamoto, K.; Inoue, H.; Oikawa, Y.; Naito, M.; Hishida, A.; Wakai, K.; Okada, C.; Shimizu, S.; Sakiyama, M.; Chiba, T.; Ogata, H.; Niwa, K.; Hosoyamada, M.; Mori, A.; Hamajima, N.; Suzuki, H.; Kanai, Y.; Sakurai, Y.; Hosoya, T.; Shimizu, T.; Shinomiya, N. Common dysfunctional variants in ABCG2 are a major cause of early-onset gout. Sci. Rep. 2013, 3, 2014.
13. Huls, M.; Brown, C.D.; Windass, A.S.; Sayer, R.; van den Heuvel, J.J.; Heemskerk, S.; Russel, F.G.; Masereeuw, R. The breast cancer resistance protein transporter ABCG2 is expressed in the human kidney proximal tubule apical membrane. Kidney Int. 2008, 73, 220-225.
14. Maliepaard, M.; Scheffer, G.L.; Faneyte, I.F.; van Gastelen, M.A.; Pijnenborg, A.C.; Schinkel, A.H.; van De Vijver, M.J.; Scheper, R.J.; Schellens, J.H. Subcellular localization and distribution of the breast cancer resistance protein transporter in normal human tissues. Cancer Res. 2001, 61, 3458-3464.
15. Ichida, K.; Matsuo, H.; Takada, T.; Nakayama, A.; Murakami, K.; Shimizu, T.; Yamanashi, Y.; Kasuga, H.; Nakashima, H.; Nakamura, T.; Takada, Y.; Kawamura, Y.; Inoue, H.; Okada, C.; Utsumi, Y.; Ikebuchi, Y.; Ito, K.; Nakamura, M.; Shinohara, Y.; Hosoyamada, M.; Sakurai, Y.; Shinomiya, N.; Hosoya, T.; Suzuki, H. Decreased extra-renal urate excretion is a common cause of hyperuricemia. Nat. Commun. 2012, 3, 764.