Genetics of gout

Current Opinion in Rheumatology

Volumn 22, Issue 2, 2010, Pages 144-151

  Choi, Hyon K ^a   Zhu, Yanyan ^b   Mount, David B ^c  

^a Section of Rheumatology   (United States)

^b BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

Genetics; Genome wide association studies; Gout; Hyperuricemia; Review; Uric acid

Indexed keywords

BREAST CANCER RESISTANCE PROTEIN; GLUCOSE TRANSPORTER; GLUCOSE TRANSPORTER 9; ORGANIC CATION TRANSPORTER 1; SOLUTE CARRIER PROTEIN 22A12; UNCLASSIFIED DRUG; URIC ACID;

CHROMOSOME 4; GENE FREQUENCY; GENE LOCUS; GENETIC RISK; GENOME ANALYSIS; GENOTYPE ENVIRONMENT INTERACTION; GOUT; HUMAN; HYPERURICEMIA; INTRON; KIDNEY PROXIMAL TUBULE; PRIORITY JOURNAL; REVIEW; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; URIC ACID BLOOD LEVEL; URINARY EXCRETION;

ALLELES; ATP-BINDING CASSETTE TRANSPORTERS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GLUCOSE TRANSPORT PROTEINS, FACILITATIVE; GOUT; HUMANS; HYPERURICEMIA; MALE; NEOPLASM PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEX FACTORS;

EID: 75749141979     PISSN: 10408711     EISSN: None     Source Type: Journal    
DOI: 10.1097/BOR.0b013e32833645e8     Document Type: Review

References (45)

1. Choi HK, Mount DB, Reginato AM. Pathogenesis of gout. Ann Intern Med 2005; 143:499-516.
2. Choi HK, Ford ES, Li C, Curhan G. Prevalence of the metabolic syndrome in patients with gout: the Third National Health and Nutrition Examination Survey. Arthritis Rheum 2007; 57:109-115. (Pubitemid 46256732)
3. Abbott RD, Brand FN, Kannel WB, Castelli WP. Gout and coronary heart disease: the Framingham Study. J Clin Epidemiol 1988; 41:237-242.
4. Krishnan E, Baker JF, Furst DE, Schumacher HR. Gout and the risk of acute myocardial infarction. Arthritis Rheum 2006; 54:2688-2696.
5. Choi HK, Curhan G. Independent impact of gout on mortality and risk for coronary heart disease. Circulation 2007; 116:894-900.
6. Choi HK, De Vera MA, Krishnan E. Gout and the risk of type 2 diabetes among men with a high cardiovascular risk profile. Rheumatology (Oxford) 2008; 47:1567-1570.
7. Kramer HM, Curhan G. The association between gout and nephrolithiasis: the National Health and Nutrition Examination Survey III. Am J Kidney Dis 2002; 40:37-42.
8. Lawrence RC, Felson DT, Helmick CG, et al. Estimates of the prevalence of arthritis and other rheumatic conditions in the United States. Part II. Arthritis Rheum 2007; 58:26-35.
9. Zaka R, Williams CJ. New developments in the epidemiology and genetics of gout. Curr Rheumatol Rep 2006; 8:215-223.
10. Fisher RA. Correlation between relatives on the supposition of Mendelian inheritance. Trans R Soc Edinb 1918; 52:399-433.
11. Saxena R, Voight BF, Lyssenko V, et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 2007; 316:1331-1336.
12. Kimura M, OtaT. The age of a neutral mutant persisting in a finite population. Genetics 1973; 75:199-212.
13. Purcell S, Neale B, Todd-Brown K, et al. PLINK. A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81:559-575.
14. A haplotype map of the human genome. Nature 2005; 437:1299-1320.
15. Price AL, Patterson NJ, Plenge RM, et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006; 38:904-909.
16. 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.
17. Doring A, Gieger C, Mehta D, et al. SLC2A9 influences uric acid concentra tions with pronounced sex-specific effects. Nat Genet 2008; 40:430-436.
18. Wallace C, Newhouse SJ, 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.
19. Dehghan A, Kottgen A, Yang Q, et al. Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. Lancet 2008; 372:1953-1961.
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. Brandstatter A, Kiechl S, Kollerits B, et al. Sex-specific association of the putative fructose transporter SLC2A9 variants with uric acid levels is modified by BMI. Diabetes Care 2008; 31:1662-1667.
22. 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.
23. Augustin R, Carayannopoulos MO, Dowd LO, et al. Identification and characterization of human glucose transporter-like protein-9 (GLUT9): alternative splicing alters trafficking. J Biol Chem 2004; 279:16229-16236.
24. Phay JE, Hussain HB, Moley JF. Cloning and expression analysis of a novel member of the facilitative glucose transporter family, SLC2A9 (GLUT9). Genomics 2000; 66:217-220.
25. Richardson S, Neama G, Phillips T, et al. Molecular characterization and partial cDNA cloning of facilitative glucose transporters expressed in human articular chondrocytes; stimulation of 2-deoxyglucose uptake by IGF-I and elevated MMP-2 secretion by glucose deprivation. Osteoarthritis Cartilage 2003; 11:92-101.
26. Manolescu AR, Augustin R, Moley K, Cheeseman C. A highly conserved hydrophobic motif in the exofacial vestibule of fructose transporting SLC2A proteins acts as a critical determinant of their substrate selectivity. Mol Membr Biol 2007; 24:455-463.
27. Caulfield MJ, Munroe PB, O'Neill D, et al. SLC2A9 is a high-capacity urate transporter in humans. PLoS Med 2008; 5:e197.
28. Anzai N, Ichida K, Jutabha P, et al. Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URATv1 (SLC2A9) in humans. J Biol Chem 2008; 283:26834-26838.
29. Matsuo H,ChibaT, Nagamori S, et al. Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. Am J Hum Genet 2008; 83:744-751.
30. Eraly SA, Vallon V, RiegT, et al. Multiple organic anion transporters contribute to net renal excretion of uric acid. Physiol Genomics 2008; 33:180-192.
31. Choi HK, Curhan G. Soft drinks, fructose consumption, and the risk of gout in men: prospective cohort study. Br Med J 2008; 336:309-312.
32. Choi JW, Ford ES, Gao X, Choi HK. 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.
33. Gao X, Qi L, Qiao N, et al. Intake of added sugar and sugar-sweetened drink and serum uric acid concentration in US men and women. Hypertension 2007; 50:306-312.
34. Woodward OM, Kottgen A, Coresh J, et al. Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout. Proc Natl Acad Sci USA 2009; 106:10338-10342.
35. Iwai N, Mino Y, HosoyamadaM, et al. A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. Kidney Int 2004; 66:935-944.
36. Shima Y, Teruya K, Ohta H. Association between intronic SNP in urate-anion exchanger gene, SLC22A12, and serum uric acid levels in Japanese. Life Sci 2006; 79:2234-2237.
37. Kagan A, Harris BR, Winkelstein WJr, et al. Epidemiologic studies of coronary heart disease and stroke in Japanese men living in Japan, Hawaii and California: demographic, physical, dietary and biochemical characteristics. J Chronic Dis 1974; 27:345-364.
38. Johnson RJ, Rideout BA. Uric acid and diet: insights into the epidemic of cardiovascular disease. N Engl J Med 2004; 350:1071-1073.
39. Cassim B, Mody GM, Deenadayalu VK, Hammond MG. Gout in black South Africans: a clinical and genetic study. Ann Rheum Dis 1994; 53:759-762.
40. Klemp P, Stansfield SA, Castle B, Robertson MC. Gout is on the increase in New Zealand. Ann Rheum Dis 1997; 56:22-26.
41. Arromdee E, Michet CJ, Crowson CS, et al. Epidemiology of gout: is the incidence rising? J Rheumatol 2002; 29:2403-2406.
42. Choi HK, Atkinson K, Karlson EW, et al. Purine-rich foods, dairy and protein intake, and the risk of gout in men. New Engl J Med 2004; 350:1093-1103. (Pubitemid 38298989)
43. Choi HK, Atkinson K, Karlson EW, et al. Alcohol intake and risk of incident gout in men: a prospective study. Lancet 2004; 363:1277-1281. (Pubitemid 38496489)
44. Choi HK, Curhan G. Adiposity, hypertension, diuretic use and risk of incident gout in women: the Nurses Health Study. Arthritis Rheum (ACR abstract) 2005.
45. Choi HK, Atkinson K, Karlson EW, Curhan G. 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.