The genetic basis of hyperuricaemia and gout

Joint Bone Spine

Volumn 78, Issue 1, 2011, Pages 35-40

  Merriman, Tony R ^a   Dalbeth, Nicola ^b  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b UNIVERSITY OF AUCKLAND   (New Zealand)

Author keywords

ABCG2; Genetics; Gout; SLC2A9; Urate

Indexed keywords

BREAST CANCER RESISTANCE PROTEIN; GLUCOSE TRANSPORTER; PROTEIN SLC2A9; UNCLASSIFIED DRUG; URATE;

ALLELE; BONE EROSION; GENETIC ASSOCIATION; GENETIC RISK; GOUT; HEREDITY; HUMAN; HYPERURICEMIA; INFLAMMATION; KIDNEY COLLECTING TUBULE; METABOLIC DISORDER; NONHUMAN; PATHOGENESIS; SHORT SURVEY; URINARY EXCRETION;

ATP-BINDING CASSETTE TRANSPORTERS; GLUCOSE TRANSPORT PROTEINS, FACILITATIVE; GOUT; HUMANS; HYPERURICEMIA; NEOPLASM PROTEINS;

EID: 78651080869     PISSN: 1297319X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jbspin.2010.02.027     Document Type: Short Survey

References (60)

1. Wu X.W., Muzny D.M., Lee C.C., et al. Two independent mutational events in the loss of urate oxidase during hominoid evolution. J Mol Evol 1992, 34:78-84.
2. Dalbeth N., Clark B., Gregory K., et al. Mechanisms of bone erosion in gout: a quantitative analysis using plain radiography and computed tomography. Ann Rheum Dis 2009, 68:1290-1295.
3. Fox I.H., Kelley W.N. Studies on the mechanism of fructose-induced hyperuricemia in man. Metabolism 1972, 21:713-721.
4. Choi H.K., Curhan G. Soft drinks, fructose consumption, and the risk of gout in men: prospective cohort study. Br Med J 2008, 336:309-312.
5. Choi J.W., Ford E.S., Gao X., et al. Sugar-sweetened soft drinks, diet soft drinks, and serum uric acid level: the Third National Health and Nutrition Examination Survey. Arthritis Rheum 2008, 59:109-116.
6. Gibson T., Waterworth R., Hatfield P., et al. Hyperuricaemia, gout and kidney function in New Zealand Maori men. Br J Rheumatol 1984, 23:276-282.
7. Simmonds H.A., McBride M.B., Hatfield P.J., et al. Polynesian women are also at risk for hyperuricaemia and gout because of a genetic defect in renal urate handling. Br J Rheumatol 1994, 33:932-937.
8. Dalbeth N., Merriman T. Crystal ball gazing: new therapeutic targets for hyperuricaemia and gout. Rheumatology (Oxford) 2009, 48:222-226.
9. Caulfield M.J., Munroe P.B., O'Neill D., et al. SLC2A9 is a high-capacity urate transporter in humans. PLoS Med 2008, 5:e197.
10. Enomoto A., Kimura H., Chairoungdua A., et al. Molecular identification of a renal urate anion exchanger that regulates blood urate levels. Nature 2002, 417:447-452.
11. Woodward O.M., Kottgen A., Coresh J., et al. Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout. Proc Natl Acad Sci U S A 2009, 106:10338-10342.
12. Vitart V., Rudan I., Hayward C., et al. SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. Nat Genet 2008, 40:437-442.
13. Hagos Y., Stein D., Ugele B., et al. Human renal organic anion transporter 4 operates as an asymmetric urate transporter. J Am Soc Nephrol 2007, 18:430-439.
14. Bomalaski J.S., Lluberas G., Schumacher H.R. Monosodium urate crystals in the knee joints of patients with asymptomatic nontophaceous gout. Arthritis Rheum 1986, 29:1480-1484.
15. Kanevets U., Sharma K., Dresser K., et al. A role of IgM antibodies in monosodium urate crystal formation and associated adjuvanticity. J Immunol 2009, 182:1912-1918.
16. Martinon F., Petrilli V., Mayor A., et al. Gout-associated uric acid crystals activate the NALP3 inflammasome. Nature 2006, 440:237-241.
17. Franchi L., Eigenbrod T., Muñoz-Planillo R., et al. The inflammasome: a caspase-1-activation platform that regulates immune responses and disease pathogenesis. Nat Immunol 2009, 10:241-247.
18. Dalbeth N., Haskard D.O. Mechanisms of inflammation in gout. Rheumatology (Oxford) 2005, 44:1090-1096.
19. McKinney C., Merriman T.R. The human genome and understanding of human disease: present and future technologies. Cell Mol Life Sci 2007, 64:961-978.
20. Li S., Sanna S., Maschio A., et al. The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts. PLoS Genet 2007, 3:e194.
21. Döring A., Gieger C., Mehta D., et al. SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. Nat Genet 2008, 40:430-436.
22. Wallace C., Newhouse S.J., Braund P., et al. Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. Am J Hum Genet 2008, 82:139-149.
23. McArdle P.F., Parsa A., Chang Y.P., et al. Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order Amish. Arthritis Rheum 2008, 58:2874-2881.
24. Dehghan A., Köttgen A., Yang Q., et al. Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide study. Lancet 2008, 372:1953-1961.
25. Stark K., Reinhard W., Neureuther K., et al. Association of common polymorphisms in GLUT9 gene with gout but not with coronary artery disease in a large case-control study. PLoS ONE 2008, 3:e1948.
26. Hollis-Moffatt J.E., Xu X., Dalbeth N., et al. A role for the urate transporter SLC2A9 gene in susceptibility to gout in New Zealand Māori. Pacific Island and Caucasian case-control cohorts. Arthritis Rheum 2009, 60:3485-3492.
27. Augustin R., Carayannopoulos M.O., Dowd L.O., et al. Identification and characterization of human glucose transporter-like protein-9 (GLUT9): alternative splicing alters trafficking. J Biol Chem 2004, 279:16229-16236.
28. Hollis-Moffatt J.E., Phipps-Green A., Dalbeth N., et al. A strong role for the ABCG2 gene in susceptibility to gout in New Zealand Pacific Island and Caucasian, but not Maori, sample sets. Arthritis Rheum 2009, 60 (Suppl.):1506.
29. Rodrigues A.C., Curi R., Genvigir F.D., et al. The expression of efflux and uptake transporters are regulated by statins in Caco-2 and HepG2 cells. Acta Pharmacol Sin 2009, 30:956-964.
30. Kolz M., Johnson T., Sanna S., et al. Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLos Genet 2009, 5:e1000504.
31. Anzai N., Kanai Y., Endou H. New insights into renal transport of urate. Curr Opin Rheumatol 2007, 19:151-157.
32. van der Harst P., Bakker S.J., de Boer R.A., et al. Replication of the 5 Novel Loci for Uric Acid Concentrations and Potential Mediating Mechanisms. Hum Mol Genet 2010, 19:387-395.
33. Urano W., Taniguchi A., Anzai N., et al. Sodium-dependent phosphate cotransporter type 1 (NPT1) sequence polymorphisms in male patients with gout. Ann Rheum Dis 2010, (Epub ahead of print).
34. Vázquez-Mellado J., Jiménez-Vaca A.L., Cuevas-Covarrubias S., et al. Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout. Rheumatology 2006, 46:215-219.
35. Tu H.P., Chen C.J., Lee C.H., et al. SLC22A12 gene is associated with gout in Han Chinese and Solomon Islanders. Ann Rheum Dis 2009, (Epub ahead of print).
36. Guan M., Zhang J., Chen Y., et al. High-resolution melting analysis for the rapid detection of an intronic single nucleotide polymorphism in SLC22A12 in male patients with primary gout in China. Scan J Rheum 2009, 38:276-281.
37. Stark K., Reinhard W., Grassl M., et al. Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease. PLoS One 2009, 4:e7729.
38. Choi H.K., Atkinson K., Karlson E.W., et al. Obesity, weight change, hypertension, diuretic use, and risk of gout in men: the health professionals' follow-up study. Arch Intern Med 2005, 165:742-748.
39. Choi H.K., De Vera M.A., Krishnan E. Gout and the risk of type 2 diabetes among men with a high cardiovascular risk profile. Rheumatology (Oxford) 2008, 47:1567-1570.
40. Choi H.K., Ford E.S., Li C., et al. Prevalence of the metabolic syndrome in patients with gout: the Third National Health and Nutrition Examination Survey. Arthritis Rheum 2007, 57:109-115.
41. Facchini F., Chen Y.D., Hollenbeck C.B., et al. Relationship between resistance to insulin-mediated glucose uptake, urinary uric acid clearance, and plasma uric acid concentration. JAMA 1991, 266:3008-3011.
42. Vaxillaire M., Cavalcanti-Proença C., Dechaume A., et al. The common P446L polymorphism in GCKR inversely modulates fasting glucose and triglyceride levels and reduces type 2 diabetes risk in the DESIR prospective general French population. Diabetes 2008, 57:2253-2257.
43. Orho-Melander M., Melander O., Guiducci C., et al. Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes 2008, 57:3112-3121.
44. Sparsø T., Andersen G., Nielsen T., et al. The GCKR rs780094 polymorphism is associated with elevated fasting serum triacylglycerol, reduced fasting and OGTT-related insulinaemia, and reduced risk of type 2 diabetes. Diabetologia 2008, 51:70-75.
45. Wallace S.L., Robinson H., Masi A.T., et al. Preliminary criteria for the classification of the acute arthritis of primary gout. Arthritis Rheum 1977, 20:895-900.
46. Harrold L.R., Saag K.G., Yood R.A., et al. Validity of gout diagnoses in administrative data. Arthritis Rheum 2007, 57:103-108.
47. Richette P., Bardin T. Gout. Lancet 2010, 375:318-328.
48. Buckley H.R. Arthritis in skeletons from Central Vanuatu. Curr Anthropol 2007, 48:741-749.
49. Prior I.A.M., Welby T.J., Ostbye T., et al. Migration and gout: the Tokelau Island migrant study. Br Med J 1987, 295:457-461.
50. Prior I. Epidemiology of rheumatic disorders in the Pacific with particular emphasis on hyperuriceamia and gout. Semin Arthr Rheum 1981, 11:213-219.
51. Klemp P., Stansfield S.A., Castle B., et al. Gout is on the increase in New Zealand. Ann Rheum Dis 1997, 56:22-26.
52. Newman A.K. Is New Zealand a healthy country?. Trans Proc Royal Soc NZ 1882, 15:499.
53. Tu H.P., Chen C.J., Tovosia S., et al. Associations of a nonsynonymous variant in SLC2A9 with gouty arthritis and uric acid levels in Han Chinese and Solomon Islanders. Ann Rheum Dis 2010, 69:887-890.
54. Kayser M., Brauer S., Cordaux R., et al. Melanesian and Asian origins of Polynesians: mtDNA and Y chromosome gradients across the Pacific. Mol Biol Evol 2006, 23:2234-2244.
55. Bleyer A.J., Woodard A.S., Shihabi Z., et al. Clinical characterization of a family with a mutation in the uromodulin (Tamm-Horsfall glycoprotein) gene. Kidney Int 2003, 64:36-42.
56. Säemann M.D., Weichhart T., Hörl W.H., et al. Tamm-Horsfall protein: a multilayered defence molecule against urinary tract infection. Eur J Clin Invest 2005, 35:227-235.
57. Zivná M., Hulková H., Matignon M., et al. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet 2009, 85(2):204-213.
58. Ali M., Rellos P., Cox T.M. Hereditary fructose intolerance. J Med Genet 1998, 35:353-365.
59. Ea H.K., Bardin T., Jinnah H.A., et al. Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase. Arthritis Rheum 2009, 60(7):2201-2204.
60. Roessler B.J., Nosal J.M., Smith P.R., et al. Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene. J Biol Chem 1993, 268(35):26476-26481.