The renal urate transporter SLC17A1 locus: Confirmation of association with gout

Arthritis Research and Therapy

Volumn 14, Issue 2, 2012, Pages

  Hollis Moffatt, Jade E ^a   Phipps Green, Amanda J ^a   Chapman, Brett ^b   Jones, Gregory T ^a   van Rij, Andre ^a   Gow, Peter J ^c   Harrison, Andrew A ^a   Highton, John ^a   Jones, Peter B ^d   Montgomery, Grant W ^b   Stamp, Lisa K ^e   Dalbeth, Nicola ^d   Merriman, Tony R ^a  

^a UNIVERSITY OF OTAGO   (New Zealand)

^b QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^c MIDDLEMORE HOSPITAL   (New Zealand)

^d UNIVERSITY OF AUCKLAND   (New Zealand)

^e UNIVERSITY OF OTAGO   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM PHOSPHATE COTRANSPORTER 1; ORGANIC ANION TRANSPORTER; SLC17A1 PROTEIN, HUMAN; URATE TRANSPORTER;

ARTICLE; CAUCASIAN; COMPARATIVE STUDY; CONTROLLED STUDY; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; GOUT; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; NEW ZEALAND; POLYNESIA; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; ADULT; AGED; CASE CONTROL STUDY; ETHNOLOGY; FEMALE; GENETICS; MALE; MIDDLE AGED; VERY ELDERLY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; FEMALE; GENETIC LOCI; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GOUT; HUMANS; MALE; MIDDLE AGED; ORGANIC ANION TRANSPORTERS; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE I; YOUNG ADULT;

EID: 84860216507     PISSN: 14786354     EISSN: 14786362     Source Type: Journal    
DOI: 10.1186/ar3816     Document Type: Article

References (26)

1. Simmonds HA, McBride MB, Hatfield PJ, Graham R, McCaskey J, Jackson M. 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.
2. Merriman TR, Dalbeth N. The genetic basis of hyperuricaemia and gout. Joint Bone Spine 2011, 38:35-40.
3. Kolz M, Johnson T, Sanna S, Teumer A, Vitart V, Perola M, Mangino M, Albrecht E, Wallace C, Farrall M, Johansson A, Nyholt DR, Aulchenko Y, Beckmann JS, Bergmann S, Bochud M, Brown M, Campbell H, , Connell J, Dominiczak A, Homuth G, Lamina C, McCarthy MI, , Meitinger T, Mooser V, Munroe P, Nauck M, Peden J, et al. EUROSPAN Consortium, ENGAGE Consortium Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet 2009, 5:e1000504. EUROSPAN Consortium, ENGAGE Consortium.
4. Yang Q, Kottgen A, Dehghan A, Smith AV, Glazer NL, Chen MH, Chasman DI, Aspelund T, Eiriksdottir G, Harris TB, Launer L, Nalls M, Hernandez D, Arking DE, Boerwinkle E, Grove ML, Li M, Linda Kao WH, Chonchol M, Haritunians T, Li G, Lumley T, Psaty BM, Shlipak M, Hwang SJ, Larson MG, O'Donnell CJ, Upadhyay A, van Duijn CM, et al. Multiple genetic loci influence serum urate and their relationship with gout and cardiovascular disease risk factors. Circ Cardiovasc Genet 2010, 3:523-530.
5. Busch AE, Schuster A, Waldegger S, Wagner CA, Zempel G, Broer S, Biber J, Murer H, Lang F. Expression of a renal type I sodium/phosphate transporter (NaPi-1) induces a conductance in Xenopus oocytes permeable for organic and inorganic anions. Proc Natl Acad Sci USA 1996, 93:5347-5351.
6. Iharada M, Miyaji T, Fujimoto T, Hiasa M, Anzai N, Omote H, Moriyama Y. Type 1 sodium-dependent phosphate transporter (SLC17A1 protein) is a Cl(-)-dependent urate exporter. J Biol Chem 2010, 285:26107-26113.
7. Uchino H, Tamai I, Yamashita K, Minemoto Y, Sai Y, Yabuuchi H, Miyamoto K, Takeda E, Tsuji A. p-aminohippuric acid transport at renal apical membrane mediated by human inorganic phosphate transporter NPT1. Biochem Biophys Res Commun 2000, 270:254-259.
8. Urano W, Taniguchi A, Anzai N, Inoue E, Kanai Y, Yamanaka M, Endou H, Kamatani N, Yamanaka H. Sodium-dependent phosphate cotransporter type 1 sequence polymorphisms in male patients with gout. Ann Rheum Dis 2010, 69:1232-1234.
9. Dehghan A, Köttgen A, Yang Q, Hwang SJ, Kao WL, Rivadeneira F, Boerwinkle E, Levy D, Hofman A, Astor BC, Benjamin EJ, van Duijn CM, Witteman JC, Coresh J, Fox CS. Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. Lancet 2008, 372:1953-1961.
10. Stark K, Reinhard W, Grassl M, Erdmann J, Schunkert H, Illig T, Hengstenberg C. Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease. PLoS One 2009, 4:e7729.
11. Roberts RL, Van Rij AM, Phillips LV, Young S, McCormick SP, Merriman TR, Jones GT. Interaction of the inflammasome genes CARD8 and NLRP3 in abdominal aortic aneurysms. Atherosclerosis 2011, 218:123-126.
12. Gretarsdottir S, Baas AF, Thorleifsson G, Holm H, den Heijer M, de Vries JP, Kranendonk SE, Zeebregts CJ, van Sterkenburg SM, Geelkerken RH, van Rij AM, Williams MJ, Boll AP, Kostic JP, Jonasdottir A, Jonasdottir A, Walters GB, Masson G, Sulem P, Saemundsdottir J, Mouy M, Magnusson KP, Tromp G, Elmore JR, Sakalihasan N, Limet R, Defraigne JO, Ferrell RE, Ronkainen A, Ruigrok YM. Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. Nat Genet 2010, 42:692-697.
13. Wallace SL, Robinson H, Masi AT, Decker JL, McCarty DJ, Yu TF. Preliminary criteria for the classification of the acute arthritis of primary gout. Arthritis Rheum 1977, 20:895-900.
14. Friedlaender JS, Friedlaender FR, Reed FA, Kidd KK, Kidd JR, Chambers GK, Lea RA, Loo JH, Koki G, Hodgson JA, Merriwether DA, Weber JL. The genetic structure of Pacific Islanders. PLoS Genet 2008, 4:e19.
15. Wollstein A, Lao O, Becker C, Brauer S, Trent RJ, Nürnberg P, Stoneking M, Kayser M. Demographic history of Oceania inferred from genome-wide data. Curr Biol 2010, 20:1983-1992.
16. Phipps-Green AJ, Hollis-Moffatt JE, Dalbeth N, Merriman ME, Topless R, Gow PJ, Harrison AA, Highton J, Jones PB, Stamp LK, Merriman TR. A strong role for the ABCG2 gene in susceptibility to gout in New Zealand Pacific Island and Caucasian, but not Maori, case and control sample sets. Hum Mol Genet 2010, 19:4813-4819.
17. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007, 81:559-575.
18. Winnard D, Wright C, Taylor WJ, Jackson G, Te Karu L, Gow PJ, Arroll B, Thornley S, Gribben B, Dalbeth D. National prevalence of gout derived from administrative health data in Aotearoa New Zealand. Rheumatology 2012, 51:901-909.
19. Pritchard JK, Stephens M, Donnelly P. Inference of population structure using multilocus genotype data. Genetics 2000, 155:945-959.
20. Hollis-Moffatt JE, Xu X, Dalbeth N, Merriman ME, Topless R, Waddell C, Gow PJ, Harrison AA, Highton J, Jones PB, Stamp LK, Merriman TR. Role of the urate transporter SLC2A9 gene in susceptibility to gout in New Zealand Maori, Pacific Island, and Caucasian case-control sample sets. Arthritis Rheum 2009, 60:3485-3492.
21. Choi HK, Atkinson K, Karlson EW, Willett W, Curhan G. Purine-rich foods, dairy and protein intake, and the risk of gout in men. N Engl J Med 2004, 350:1093-1103.
22. McAdams MA, Maynard JW, Baer AN, Köttgen A, Clipp S, Coresh J, Gelber AC. Reliability and sensitivity of the self-report of physician-diagnosed gout in the campaign against cancer and heart disease and the atherosclerosis risk in the community cohorts. J Rheumatol 2011, 38:135-141.
23. Harrold LR, Saag KG, Yood RA, Mikuls TR, Andrade SE, Fouayzi H, Davis J, Chan KA, Raebel MA, Von Worley A, Platt R. Validity of gout diagnoses in administrative data. Arthritis Rheum 2007, 57:103-108.
24. Roddy E, Doherty M. Epidemiology of gout. Arthritis Res Ther 2010, 12:223.
25. Hagos Y, Stein D, Ugele B, Burckhardt G, Bahn A. Human renal organic anion transporter 4 operates as an asymmetric urate transporter. J Am Soc Nephrol 2007, 18:430-439.
26. Jutabha P, Anzai N, Kitamura K, Taniguchi A, Kaneko S, Yan K, Yamada H, Shimada H, Kimura T, Katada T, Fukutomi T, Tomita K, Urano W, Yamanaka H, Seki G, Fujita T, Moriyama Y, Yamada A, Uchida S, Wempe MF, Endou H, Sakurai H. Human sodium phosphate transporter 4 (hNPT4/SLC17A3) as a common renal secretory pathway for drugs and urate. J Biol Chem 2010, 285:35123-35123.