Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout

Rheumatology

Volumn 46, Issue 2, 2007, Pages 215-219

  Vazquez Mellado J ^a,b   Jimenez Vaca A L ^c   Cuevas Covarrubias, S ^b,c   Alvarado Romano, V ^a   Pozo Molina, G ^d   Burgos Vargas, R ^a,b  

^a SECRETARÍA DE SALUD   (Mexico)

^b UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^c HOSPITAL GENERAL DE MÉXICO   (Mexico)

^d DEPARTAMENTO DE FÍSICA   (Mexico)

Author keywords

Gout; SLC22A12; URAT1; Uric acid

Indexed keywords

5 ETHYL 2' FLUOROURACIL ARABINOSIDE; DNA; PROTEIN SLC22A12; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; URATE; URATE TRANSPORTER 1;

ADULT; ARTICLE; CHRONIC KIDNEY FAILURE; CONTROLLED STUDY; DEMOGRAPHY; DIABETES MELLITUS; DISEASE ASSOCIATION; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GOUT; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERTENSION; HYPERTRIGLYCERIDEMIA; ISCHEMIC HEART DISEASE; MAJOR CLINICAL STUDY; MALE; METABOLIC SYNDROME X; OBESITY; OUTPATIENT; PRIORITY JOURNAL; STONE FORMATION; URIC ACID BLOOD LEVEL;

ADULT; AGED; BASE SEQUENCE; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GOUT; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; ORGANIC ANION TRANSPORTERS; ORGANIC CATION TRANSPORT PROTEINS;

EID: 33846675673     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/kel205     Document Type: Article

References (23)

1. Anzai N, Enomoto A, Endou H. Renal urate handling: Clinical relevance of recent advances. Curr Rheumatol Rep 2005;7:227-34.
2. Hediger MA, Johnson RJ, Miyazaki H, Endou H. Molecular physiology of urate transport. Physiology 2005;20:125-33.
3. Pérez-Ruiz F, Calabozo M, Erauskin GG, Ruibal A, Herrero-Baites AM. Renal under excretion of uric acid is present in patients with apparent high urinary uric acid output. Arthritis Rheum 2002;15:610-3.
4. Emmerson BJ. Identification of the causes of persistent hyperuricemia. Lancet 1991;337:1461-63.
5. Raley MA, Lipkowitz MS, Leal Pinto E, Abrahmson RG. Uric acid transport. Curr Opin Nephrol Hypertens 2003;12:511-6.
6. Roch-Ramel F, Guisan B. Renal transport or urate in humans. News Physiol Sci 1999;14:80-4.
7. Enomoto A, Kimura H, Chairoungdua A, Shigeta Y, Jutabha P, Cha S et al. Molecular identification of a renal urate-anion exchanger that regulates blood urate levels. Nature 2002;417:447-52.
8. Hosoyamada M, Ichida K, Enomoto A, Hosoya T, Endou H. Function and localization of urate transporter 1 in Mouse kidney. J Am Soc Nephrol 2004;15:261-8.
9. Li T, Walsh JR, Ghishan FK, Bai L. Molecular cloning and characterization of a human urate transporter (hURAT1) gene promoter. Biochem Biophys Acta 2004;1681:53-8.
10. Anzai N, Miyazaki H, Noshiro R, Khamdang S, Chairoungdua A, Shin JH et al. The multivalent PDZ domain-containing protein PDZK1 regulates transport activity of renal urate anion exchanger URAT1 via its C terminus. J Biol Chem 2004;279:4542-50.
11. Ichida Y, Hosoyamada M, Hisatome I, Enomoto A, Hikita M, Endou H et al. Clinical and molecular analysis of patients with renal hypuricemia in Japan-influence of URAT1 gene on urinary urate excretion. J Am Soc Nephrol 2004;15:164-73.
12. Iwai N, Mino Y, Hosoyamada M, Tago N, Kokubo Y, Endou H. A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. Kidney Int 2004;66:935-44.
13. Cassim B, Moody GM, Deenadayalu VK, Hammond MG. Gout in black South Africans: A clinical and genetic study. Ann Rheum Dis 1994;53:759-62.
14. Cardona F, Tinahones FJ, Collantes E, Escudero A, Garcia-Fuentes E, Soriguer FJ. The elevated prevalence of apolipoprotein E2 in patients with gout is associated with reduced renal excretion of urates. Rheumatology 2003;42:468-72.
15. Cardona F, Tinahones FJ, Collantes E, Escudero A, García Fuentes E, Soriguer F. Contribution of polymorphism in the apolipoprotein AI-CIII-AIV cluster to hyperlipidemia in patients with gout. Ann Rheum Dis 2005;64:85-8.
16. Hong YS, Lee MJ, Kim KH, Lee SH, Lee YH, Kim BG. The C677 mutation in methylene tetrahydrofolate reductase gene: Correlation with uric acid and cardiovascular risk factos in elderly Korean men. J Korean Med Sci 2004;19:209-13.
17. Wilk JB, Djousse L, Borecki I et al. Segregation analysis of serum uric acid in the NHLBI Family Heart Study. Human Genet 2000;106: 355-9.
18. Puig JG, Mateos FA, Jiménez ML, Ramos TH. Renal excretion of hypoxanthine and xanthine in primary gout. Am J Med 1988;85: 533-7.
19. Wallace SL, Robinson H, Masi AT, Decker JL, McCarty DJ, Yü TF. Preliminary criteria for the classification of the acute arthritis of primary gout. Arthritis Rheum 1977;20:895-900.
20. National Institutes of Health. Third report of the National Cholesterol Education Program Expert Panel on detection, evaluation and treatment of high blood cholesterol in adults (Adult Treatment Panel III) Bethesda, MD: National Institutes of Health; 2001;42: NIH Publication 01-3670.
21. Tanaka M, Itoh K, Matsushita K et al. Two male siblings with hereditary renal hypouricemia and exercise-induced ARF. Am J Kidney Dis 2003;46:1287-92.
22. Taniguchi A, Urano W, Yamanaka M, Yamanaka H. A common mutation in an organic anion transporter gene, SLC22A12, is a suppressing factor for the development of gout. Arthritis Rheum 2005;52:2576-7.
23. Graessler J, Graessler A, Unger S et al. Association of the Human urate transporter 1 with reduced renal uric acid excretion and hyperuricemia in a German Caucasian population. Arthritis Rheum 2006;54:292-300.