Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout. | Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout. Vávra J, Pavelcová K, Mašínová J, Hasíková L, Bubeníková E, Urbanová A, Mančíková A, Stibůrková B., Free PMC Article | 02/15/2024 |
A meta-analysis of all gout with Japanese, Caucasian and NZ Polynesian populations revealed that rs2285340 of SLC22A12 and rs1165196 of SLC17A1 showed a significant association but did not reach a genome-wide significance level. | GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes. Nakayama A, Nakaoka H, Yamamoto K, Sakiyama M, Shaukat A, Toyoda Y, Okada Y, Kamatani Y, Nakamura T, Takada T, Inoue K, Yasujima T, Yuasa H, Shirahama Y, Nakashima H, Shimizu S, Higashino T, Kawamura Y, Ogata H, Kawaguchi M, Ohkawa Y, Danjoh I, Tokumasu A, Ooyama K, Ito T, Kondo T, Wakai K, Stiburkova B, Pavelka K, Stamp LK, Dalbeth N, Eurogout Consortium, Sakurai Y, Suzuki H, Hosoyamada M, Fujimori S, Yokoo T, Hosoya T, Inoue I, Takahashi A, Kubo M, Ooyama H, Shimizu T, Ichida K, Shinomiya N, Merriman TR, Matsuo H, Eurogout Consortium., Free PMC Article | 06/24/2017 |
I269T, a common missense variant of NPT1, might have faster conformation changes than NPT1 wild type in terms of the alternating-access model of transporters, and increases renal urate export in humans. | Expression of a human NPT1/SLC17A1 missense variant which increases urate export. Sakiyama M, Matsuo H, Nagamori S, Ling W, Kawamura Y, Nakayama A, Higashino T, Chiba T, Ichida K, Kanai Y, Shinomiya N. | 03/18/2017 |
Data suggest that single nucleotide polymorphisms (SNPs) of solute carrier family 17 member 1 (SLC17A1) are potential biomarkers for altered cholesterol homeostasis and hyperhomocysteinaemia in Japanese men. | Genetic variants of SLC17A1 are associated with cholesterol homeostasis and hyperhomocysteinaemia in Japanese men. Koyama T, Matsui D, Kuriyama N, Ozaki E, Tanaka K, Oze I, Hamajima N, Wakai K, Okada R, Arisawa K, Mikami H, Shimatani K, Hirata A, Takashima N, Suzuki S, Nagata C, Kubo M, Tanaka H., Free PMC Article | 09/10/2016 |
Data suggest that single nucleotide polymorphisms (SNPs) rs9467596 and rs2096386 of the solute carrier family 17 (sodium phosphate), member 1 protein (SLC17A1) gene may have a correlation between hyperuricemia and alcohol drinking among Uygur patients. | [Polymorphisms of SLC17A1 gene and their interaction with alcohol drinking among Uygur patients with hyperuricemia]. Wang T, Su Y, Wang Z, Ma Q, Yao H. | 05/28/2016 |
Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males. | Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case-control study. Zhou ZW, Cui LL, Han L, Wang C, Song ZJ, Shen JW, Li ZQ, Chen JH, Wen ZJ, Wang XM, Shi YY, Li CG., Free PMC Article | 10/24/2015 |
NPT1/SLC17A1 is a renal urate exporter in humans and its common gain-of-function variant decreases the risk of renal underexcretion gout. | NPT1/SLC17A1 is a renal urate exporter in humans and its common gain-of-function variant decreases the risk of renal underexcretion gout. Chiba T, Matsuo H, Kawamura Y, Nagamori S, Nishiyama T, Wei L, Nakayama A, Nakamura T, Sakiyama M, Takada T, Taketani Y, Suma S, Naito M, Oda T, Kumagai H, Moriyama Y, Ichida K, Shimizu T, Kanai Y, Shinomiya N. | 04/4/2015 |
NPT1 is responsible for urate excretion under physiological conditions and its impairment is linked with the occurrence of gout. [review] | Type 1 sodium-dependent phosphate transporter acts as a membrane potential-driven urate exporter. Miyaji T, Kawasaki T, Togawa N, Omote H, Moriyama Y. | 03/1/2014 |
We observed a clear effect of SLC17A1 genotype on fructose load in Europeans but not Polynesian subgroups. | Population-specific effects of SLC17A1 genotype on serum urate concentrations and renal excretion of uric acid during a fructose load. Dalbeth N, House ME, Gamble GD, Horne A, Purvis L, Stewart A, Merriman M, Cadzow M, Phipps-Green A, Merriman TR. | 02/15/2014 |
Renal urate transporter SLC17A1 is the third locus associated with gout at a genome-wide level of significance. | The renal urate transporter SLC17A1 locus: confirmation of association with gout. Hollis-Moffatt JE, Phipps-Green AJ, Chapman B, Jones GT, van Rij A, Gow PJ, Harrison AA, Highton J, Jones PB, Montgomery GW, Stamp LK, Dalbeth N, Merriman TR., Free PMC Article | 05/25/2013 |
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | A genome-wide association study of red blood cell traits using the electronic medical record. Kullo IJ, Ding K, Jouni H, Smith CY, Chute CG., Free PMC Article | 12/5/2010 |
Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) | Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. Yang Q, Köttgen 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, Hofman A, Rivadeneira F, Stricker B, Uitterlinden AG, Paré G, Parker AN, Ridker PM, Siscovick DS, Gudnason V, Witteman JC, Fox CS, Coresh J., Free PMC Article | 12/5/2010 |
results strongly suggested that NPT1 is a Cl(-)-dependent polyspecific anion exporter involved in urate excretion under physiological conditions | Type 1 sodium-dependent phosphate transporter (SLC17A1 Protein) is a Cl(-)-dependent urate exporter. Iharada M, Miyaji T, Fujimoto T, Hiasa M, Anzai N, Omote H, Moriyama Y., Free PMC Article | 10/4/2010 |
data suggest that SLC17A1 polymorphisms are associated with the development of gout. | Sodium-dependent phosphate cotransporter type 1 sequence polymorphisms in male patients with gout. Urano W, Taniguchi A, Anzai N, Inoue E, Kanai Y, Yamanaka M, Endou H, Kamatani N, Yamanaka H, Urano W, Taniguchi A, Anzai N, Inoue E, Kanai Y, Yamanaka M, Endou H, Kamatani N, Yamanaka H. | 07/19/2010 |
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Predictive value of 8 genetic loci for serum uric acid concentration. Gunjaca G, Boban M, Pehlić M, Zemunik T, Budimir D, Kolcić I, Lauc G, Rudan I, Polasek O., Free PMC Article | 04/7/2010 |
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator) | Common variants on chromosome 6p22.1 are associated with schizophrenia. Shi J, Levinson DF, Duan J, Sanders AR, Zheng Y, Pe'er I, Dudbridge F, Holmans PA, Whittemore AS, Mowry BJ, Olincy A, Amin F, Cloninger CR, Silverman JM, Buccola NG, Byerley WF, Black DW, Crowe RR, Oksenberg JR, Mirel DB, Kendler KS, Freedman R, Gejman PV., Free PMC Article | 08/12/2009 |
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | Sodium-dependent phosphate cotransporter type 1 sequence polymorphisms in male patients with gout. Urano W, Taniguchi A, Anzai N, Inoue E, Kanai Y, Yamanaka M, Endou H, Kamatani N, Yamanaka H, Urano W, Taniguchi A, Anzai N, Inoue E, Kanai Y, Yamanaka M, Endou H, Kamatani N, Yamanaka H. | 08/12/2009 |
Meta-analysis of gene-disease association. (HuGE Navigator) | Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. 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, EUROSPAN Consortium, Connell J, Dominiczak A, Homuth G, Lamina C, McCarthy MI, ENGAGE Consortium, Meitinger T, Mooser V, Munroe P, Nauck M, Peden J, Prokisch H, Salo P, Salomaa V, Samani NJ, Schlessinger D, Uda M, Völker U, Waeber G, Waterworth D, Wang-Sattler R, Wright AF, Adamski J, Whitfield JB, Gyllensten U, Wilson JF, Rudan I, Pramstaller P, Watkins H, PROCARDIS Consortium, Doering A, Wichmann HE, KORA Study, Spector TD, Peltonen L, Völzke H, Nagaraja R, Vollenweider P, Caulfield M, WTCCC, Illig T, Gieger C., Free PMC Article | 06/24/2009 |
Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesCommon polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease. Stark K, Reinhard W, Grassl M, Erdmann J, Schunkert H, Illig T, Hengstenberg C. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. Chapuis J, Hot D, Hansmannel F, Kerdraon O, Ferreira S, Hubans C, Maurage CA, Huot L, Bensemain F, Laumet G, Ayral AM, Fievet N, Hauw JJ, DeKosky ST, Lemoine Y, Iwatsubo T, Wavrant-Devrièze F, Dartigues JF, Tzourio C, Buée L, Pasquier F, Berr C, Mann D, Lendon C, Alpérovitch A, Kamboh MI, Amouyel P, Lambert JC. | 03/25/2009 |
structure and promoter activity, molecular cloning | Murine and human type I Na-phosphate cotransporter genes: structure and promoter activity. Soumounou Y, Gauthier C, Tenenhouse HS. | 01/21/2010 |