Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout

Proceedings of the National Academy of Sciences of the United States of America

Volumn 106, Issue 25, 2009, Pages 10338-10342

  Woodward, Owen M ^a   Köttgen, Anna ^b   Coresh, Josef ^b   Boerwinkle, Eric ^c   Guggino, William B ^a   Köttgen, Michael ^a  

^a DEPARTMENT OF PATHOLOGY   (United States)

^b JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^c UNIVERSITY OF TEXAS   (United States)

Author keywords

Causal variant; Genome wide association study; Uric acid

Indexed keywords

BREAST CANCER RESISTANCE PROTEIN; MULTIDRUG RESISTANCE PROTEIN 4; TRANSMEMBRANE CONDUCTANCE REGULATOR; URATE;

ANIMAL CELL; ARTICLE; BRUSH BORDER; CHROMOSOME 4; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC VARIABILITY; GENOME ANALYSIS; GOUT; HUMAN; KIDNEY EPITHELIUM; KIDNEY PROXIMAL TUBULE; MAJOR CLINICAL STUDY; NONHUMAN; OOCYTE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; PROTEIN LOCALIZATION; SINGLE NUCLEOTIDE POLYMORPHISM; SITE DIRECTED MUTAGENESIS; URIC ACID BLOOD LEVEL; URIC ACID URINE LEVEL; XENOPUS LAEVIS;

AMINO ACID SEQUENCE; ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; EPITHELIAL CELLS; FEMALE; GOUT; HUMANS; HYPERURICEMIA; KIDNEY TUBULES, PROXIMAL; MOLECULAR SEQUENCE DATA; NEOPLASM PROTEINS; OOCYTES; POLYMORPHISM, SINGLE NUCLEOTIDE; URIC ACID; XENOPUS LAEVIS;

EID: 67649886415     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0901249106     Document Type: Article

References (30)

1. Anzai N, Kanai Y, Endou H (2007) New insights into renal transport of urate. Curr Opin Rheumatol 19:151-157. (Pubitemid 46208773)
2. Yang Q, et al. (2005) Genome-wide search for genes affecting serum uric acid levels: The Framingham Heart Study. Metabolism 54:1435-1441. (Pubitemid 41527011)
3. Lawrence RC, et al. (2008) Estimates of the prevalence of arthritis and other rheumatic conditions in the United States. Part II Arthritis Rheum 58:26-35.
4. Dehghan A, et al. (2008) Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. Lancet 372:1953-1961.
5. Doyle LA, et al. (1998) A multidrug resistance transporter from human MCF-7 breast cancer cells. Proc Natl Acad Sci USA 95:15665-15670. (Pubitemid 29018757)
6. Polgar O, Robey RW, Bates SE (2008) ABCG2: structure, function and role in drug response. Expert Opin Drug Metab Toxicol 4:1-15. (Pubitemid 351234097)
7. Van Aubel RA, Smeets PH, van den Heuvel JJ, Russel FG (2005) Human organic anion transporter MRP4 (ABCC4) is an efflux pump for the purine end metabolite urate with multiple allosteric substrate binding sites. Am J Physiol Renal Physiol 288:F327-333. (Pubitemid 40109516)
8. Huls M, et al. (2008) The breast cancer resistance protein transporter ABCG2 is expressed in the human kidney proximal tubule apical membrane. Kidney Int 73:220-225.
9. The Atherosclerosis Risk in Communities (ARIC) (1989) Study: Design and objectives. The ARIC investigators. Am J Epidemiol. 129:687-702.
10. Krishnamurthy P, Schuetz JD (2006) Role of ABCG2/BCRP in biology and medicine. Annu Rev Pharmacol Toxicol 46:381-410.
11. Krishnan E, Lienesch D, Kwoh CK (2008) Gout in ambulatory care settings in the United States. J Rheumatol 35:498-501.
12. Becker MA, et al. (2005) Febuxostat compared with allopurinol in patients with hyperuricemia and gout. N Engl J Med 353:2450-2461. (Pubitemid 41781828)
13. Schumacher HR, Jr, et al. (2008) Effects of febuxostat versus allopurinol and placebo in reducing serum urate in subjects with hyperuricemia and gout: A 28-week, phase III, randomized, double-blind, parallel-group trial. Arthritis Rheum 59):1540-1548.
14. Donnelly P (2008) Progress and challenges in genome-wide association studies in humans. Nature 456:728-731.
15. McCarthy MI, et al. (2008) Genome-wide association studies for complex traits: Consensus, uncertainty and challenges. Nat Rev Genet 9:356-369. (Pubitemid 351556063)
16. +-coupled sugar transporters (SGLT1). J Physiol 542:71-87. (Pubitemid 35190274)
17. Purcell S, et al. (2007) PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559-575. (Pubitemid 47330214)
18. Price AL, et al. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38:904-909. (Pubitemid 44141658)
19. Iribarren C, Folsom AR, Eckfeldt JH, McGovern PG, Nieto FJ (1996) Correlates of uric acid and its association with asymptomatic carotid atherosclerosis: the ARIC Study. Atherosclerosis Risk in Communities Ann Epidemiol 6:331-340. (Pubitemid 26299025)
20. Eckfeldt JH, Chambless LE, Shen YL (1994) Short-term, within-person variability in clinical chemistry test results. Experience from the Atherosclerosis Risk in Communities Study. Arch Pathol Lab Med 118:496-500. (Pubitemid 24176825)
21. Yates JR, et al. (2007) Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med 357:553-561. (Pubitemid 47236280)
22. Aulchenko YS, Ripke S, Isaacs A, van Duijn CM (2007) GenABEL: an R library for genome-wide association analysis. Bioinformatics 23:1294-1296. (Pubitemid 47050548)
23. Enomoto A, et al. (2002) Molecular identification of a renal urate anion exchanger that regulates blood urate levels. Nature 417:447-452. (Pubitemid 34563537)
24. Li S, et al. (2007) The GLUT9 Gene Is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts. PLoS Genet 3:e194. (Pubitemid 350291576)
25. Wallace C, et al. (2008) Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. Am J Hum Genet 82:139-149. (Pubitemid 351735954)
26. Doring A, et al. (2008) SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. Nat Genet 40:430-436.
27. Vitart V, et al. (2008) SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. Nat Genet 40:437-442.
28. Matsuo H, et al. (2008) Mutations in Glucose Transporter 9 Gene SLC2A9 Cause Renal Hypouricemia. Am J Hum Genet 83:744-751.
29. Enomoto A, Endou H (2005) Roles of organic anion transporters (OATs) and a urate transporter (URAT1) in the pathophysiology of human disease. Clin Exp Nephrol 9:195-205. (Pubitemid 41414118)
30. Rizwan AN, Burckhardt G (2007) Organic anion transporters of the SLC22 family: biopharmaceutical, physiological, and pathological roles. Pharm Res 24:450-470. (Pubitemid 46295167)