SLC2A9 c.814+7627T>C

Variant ID: 4-9935910-A-G

NM_020041.2(SLC2A9):c.814+7627T>C

This variant was identified in 37 publications

View GRCh38 version.




Publications:


Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).

International Journal Of Molecular Sciences
Perdomo-Ramirez, Ana A; Cordoba-Lanus, Elizabeth E; Trujillo-Frias, Carmen Jane CJ; Gonzalez-Navasa, Carolina C; Ramos-Trujillo, Elena E; Luis-Yanes, Maria Isabel MI; Garcia-Nieto, Victor V; Claverie-Martin, Felix F; ,
Publication Date: 2023-05-08

Variant appearance in text: rs6855911
PubMed Link: 37176161
Variant Present in the following documents:
  • Main text
  • ijms-24-08455.pdf
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Weak Association Between Genetic Markers of Hyperuricemia and Cardiorenal Outcomes: Insights From the STANISLAS Study Cohort With a 20-Year Follow-Up.

Journal Of The American Heart Association
Kanbay, Mehmet M; Xhaard, Constance C; Le Floch, Edith E; Dandine-Roulland, Claire C; Girerd, Nicolas N; Ferreira, João Pedro JP; Boivin, Jean-Marc JM; Wagner, Sandra S; Bacq-Daian, Delphine D; Deleuze, Jean-François JF; Zannad, Faiez F; Rossignol, Patrick P
Publication Date: 2022-05-03

Variant appearance in text: rs6855911
PubMed Link: 35470676
Variant Present in the following documents:
  • Main text
  • JAH3-11-e023301.pdf
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Uric Acid Mediated the Association Between BMI and Postmenopausal Breast Cancer Incidence: A Bidirectional Mendelian Randomization Analysis and Prospective Cohort Study.

Frontiers In Endocrinology
Feng, Yue Y; Fu, Ming M; Guan, Xin X; Wang, Chenming C; Yuan, Fangfang F; Bai, Yansen Y; Meng, Hua H; Li, Guyanan G; Wei, Wei W; Li, Hang H; Li, Mengying M; Jie, Jiali J; Lu, Yanjun Y; Guo, Huan H
Publication Date: 2021

Variant appearance in text: rs6855911
PubMed Link: 35185779
Variant Present in the following documents:
  • Main text
  • fendo-12-742411.pdf
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Quantile-Dependent Expressivity of Serum Uric Acid Concentrations.

International Journal Of Genomics
Williams, Paul T PT
Publication Date: 2021

Variant appearance in text: rs6855911
PubMed Link: 34545327
Variant Present in the following documents:
  • Main text
  • IJG2021-3889278.pdf
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The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysis.

Bmc Medical Genetics
Lukkunaprasit, Thitiya T; Rattanasiri, Sasivimol S; Turongkaravee, Saowalak S; Suvannang, Naravut N; Ingsathit, Atiporn A; Attia, John J; Thakkinstian, Ammarin A
Publication Date: 2020-10-21

Variant appearance in text: rs6855911
PubMed Link: 33087043
Variant Present in the following documents:
  • Main text
  • 12881_2020_Article_1147.pdf
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Systemic Investigation of Promoter-wide Methylome and Genome Variations in Gout.

International Journal Of Molecular Sciences
Tseng, Chia-Chun CC; Wong, Man Chun MC; Liao, Wei-Ting WT; Chen, Chung-Jen CJ; Lee, Su-Chen SC; Yen, Jeng-Hsien JH; Chang, Shun-Jen SJ
Publication Date: 2020-07-01

Variant appearance in text: rs6855911
PubMed Link: 32630231
Variant Present in the following documents:
  • ijms-21-04702-s001.pdf
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Mendelian randomization study of serum uric acid levels and diabetes risk: evidence from the Dongfeng-Tongji cohort.

Bmj Open Diabetes Research & Care
Keerman, Mulatibieke M; Yang, Fen F; Hu, Hua H; Wang, Jing J; Wang, Fei F; Li, Zhaoyang Z; Yuan, Jing J; Yao, Ping P; Zhang, Xiaomin X; Guo, Huan H; Yang, Handong H; He, Meian M
Publication Date: 2020-02

Variant appearance in text: rs6855911
PubMed Link: 32111716
Variant Present in the following documents:
  • bmjdrc-2019-000834supp001.pdf
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Fine mapping and identification of serum urate loci in American Indians: The Strong Heart Family Study.

Scientific Reports
Chittoor, Geetha G; Haack, Karin K; Balakrishnan, Poojitha P; Bizon, Christopher C; Laston, Sandra S; Best, Lyle G LG; MacCluer, Jean W JW; North, Kari E KE; Umans, Jason G JG; Franceschini, Nora N; Prasad, Gauri G; Macias-Kauffer, Luis L; Villarreal-Molina, Teresa T; Bharadwaj, Dwaipayan D; Canizales-Quinteros, Samuel S; Navas-Acien, Ana A; Cole, Shelley A SA; Voruganti, V S VS
Publication Date: 2019-11-29

Variant appearance in text: rs6855911
PubMed Link: 31784582
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_52924.pdf
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Multiple Membrane Transporters and Some Immune Regulatory Genes are Major Genetic Factors to Gout.

The Open Rheumatology Journal
Zhu, Weifeng W; Deng, Yan Y; Zhou, Xiaodong X
Publication Date: 2018

Variant appearance in text: rs6855911
PubMed Link: 30123371
Variant Present in the following documents:
  • Main text
  • TORJ-12-94.pdf
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Genetic variants related to urate and risk of Parkinson's disease.

Parkinsonism & Related Disorders
Hughes, Katherine C KC; Gao, Xiang X; O'Reilly, Eilis J EJ; Kim, Iris Y IY; Wang, Molin M; Weisskopf, Marc G MG; Schwarzschild, Michael A MA; Ascherio, Alberto A
Publication Date: 2018-08

Variant appearance in text: rs6855911
PubMed Link: 29789205
Variant Present in the following documents:
  • Main text
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Replication of Gout/Urate Concentrations GWAS Susceptibility Loci Associated with Gout in a Han Chinese Population.

Scientific Reports
Li, Zhiqiang Z; Zhou, Zhaowei Z; Hou, Xu X; Lu, Dajiang D; Yuan, Xuan X; Lu, Jie J; Wang, Can C; Han, Lin L; Cui, Lingling L; Liu, Zhen Z; Chen, Jianhua J; Cheng, Xiaoyu X; Zhang, Keke K; Ji, Jue J; Jia, Zhaotong Z; Ma, Lidan L; Xin, Ying Y; Liu, Tian T; Yu, Qing Q; Ren, Wei W; Wang, Xuefeng X; Li, Xinde X; Mi, Qing-Sheng QS; Shi, Yongyong Y; Li, Changgui C
Publication Date: 2017-06-22

Variant appearance in text: rs6855911
PubMed Link: 28642574
Variant Present in the following documents:
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Serum uric acid levels and multiple health outcomes: umbrella review of evidence from observational studies, randomised controlled trials, and Mendelian randomisation studies.

Bmj (Clinical Research Ed.)
Li, Xue X; Meng, Xiangrui X; Timofeeva, Maria M; Tzoulaki, Ioanna I; Tsilidis, Konstantinos K KK; Ioannidis, John PA JP; Campbell, Harry H; Theodoratou, Evropi E
Publication Date: 2017-06-07

Variant appearance in text: rs6855911
PubMed Link: 28592419
Variant Present in the following documents:
  • Main text
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Genetic risk scores, sex and dietary factors interact to alter serum uric acid trajectory among African-American urban adults.

The British Journal Of Nutrition
Beydoun, May A MA; Canas, Jose-Atilio JA; Fanelli-Kuczmarski, Marie T MT; Tajuddin, Salman M SM; Evans, Michele K MK; Zonderman, Alan B AB
Publication Date: 2017-03

Variant appearance in text: rs6855911
PubMed Link: 28345493
Variant Present in the following documents:
  • Main text
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Correlation of GLUT9 Polymorphisms With Gout Risk.

Medicine
Meng, Qingxi Q; Yue, Ji J; Shang, Mingfu M; Shan, Qunqun Q; Qi, Jian J; Mao, Zhaohu Z; Li, Jian J; Zhang, Fan F; Wang, Baolong B; Zhao, Tingbao T; Wang, Weiguo W
Publication Date: 2015-11

Variant appearance in text: rs6855911
PubMed Link: 26554771
Variant Present in the following documents:
  • Main text
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Genetic analysis of ABCG2 and SLC2A9 gene polymorphisms in gouty arthritis in a Korean population.

The Korean Journal Of Internal Medicine
Kim, Yun Sung YS; Kim, Yunsuek Y; Park, Geon G; Kim, Seong-Kyu SK; Choe, Jung-Yoon JY; Park, Byung Lae BL; Kim, Hyun Sook HS
Publication Date: 2015-11

Variant appearance in text: rs6855911
PubMed Link: 26552468
Variant Present in the following documents:
  • Main text
  • kjim-30-6-913.pdf
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Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case-control study.

Bmc Medical Genetics
Zhou, Zhao-Wei ZW; Cui, Ling-Ling LL; Han, Lin L; Wang, Can C; Song, Zhi-Jian ZJ; Shen, Jia-Wei JW; Li, Zhi-Qiang ZQ; Chen, Jian-Hua JH; Wen, Zu-Jia ZJ; Wang, Xiao-Min XM; Shi, Yong-Yong YY; Li, Chang-Gui CG
Publication Date: 2015-08-20

Variant appearance in text: rs6855911
PubMed Link: 26290326
Variant Present in the following documents:
  • Main text
  • 12881_2015_Article_208.pdf
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Detection of pleiotropy through a Phenome-wide association study (PheWAS) of epidemiologic data as part of the Environmental Architecture for Genes Linked to Environment (EAGLE) study.

Plos Genetics
Hall, Molly A MA; Verma, Anurag A; Brown-Gentry, Kristin D KD; Goodloe, Robert R; Boston, Jonathan J; Wilson, Sarah S; McClellan, Bob B; Sutcliffe, Cara C; Dilks, Holly H HH; Gillani, Nila B NB; Jin, Hailing H; Mayo, Ping P; Allen, Melissa M; Schnetz-Boutaud, Nathalie N; Crawford, Dana C DC; Ritchie, Marylyn D MD; Pendergrass, Sarah A SA
Publication Date: 2014-12

Variant appearance in text: rs6855911
PubMed Link: 25474351
Variant Present in the following documents:
  • Main text
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Gout: a review of nonmodifiable and modifiable risk factors.

Rheumatic Diseases Clinics Of North America
MacFarlane, Lindsey A LA; Kim, Seoyoung C SC
Publication Date: 2014-11

Variant appearance in text: rs6855911
PubMed Link: 25437279
Variant Present in the following documents:
  • Main text
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Complex analysis of urate transporters SLC2A9, SLC22A12 and functional characterization of non-synonymous allelic variants of GLUT9 in the Czech population: no evidence of effect on hyperuricemia and gout.

Plos One
Hurba, Olha O; Mancikova, Andrea A; Krylov, Vladimir V; Pavlikova, Marketa M; Pavelka, Karel K; Stibůrková, Blanka B
Publication Date: 2014

Variant appearance in text: rs6855911
PubMed Link: 25268603
Variant Present in the following documents:
  • Main text
  • pone.0107902.pdf
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Associations of serum uric acid and SLC2A9 variant with depressive and anxiety disorders: a population-based study.

Plos One
Lyngdoh, Tanica T; Bochud, Murielle M; Glaus, Jennifer J; Castelao, Enrique E; Waeber, Gerard G; Vollenweider, Peter P; Preisig, Martin M
Publication Date: 2013

Variant appearance in text: rs6855911
PubMed Link: 24204615
Variant Present in the following documents:
  • Main text
  • pone.0076336.pdf
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Short communication: genetic variations of SLC2A9 in relation to Parkinson's disease.

Translational Neurodegeneration
Gao, Jianjun J; Xu, Hong H; Huang, Xuemei X; Chen, Honglei H
Publication Date: 2013-02-19

Variant appearance in text: rs6855911
PubMed Link: 23422251
Variant Present in the following documents:
  • Main text
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Racial and gender disparities among patients with gout.

Current Rheumatology Reports
Singh, Jasvinder A JA
Publication Date: 2013-02

Variant appearance in text: rs6855911
PubMed Link: 23315156
Variant Present in the following documents:
  • Main text
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Changes in uric acid levels following bariatric surgery are not associated with SLC2A9 variants in the Swedish Obese Subjects Study.

Plos One
Sarzynski, Mark A MA; Jacobson, Peter P; Rankinen, Tuomo T; Carlsson, Björn B; Sjöström, Lars L; Bouchard, Claude C; Carlsson, Lena M S LM
Publication Date: 2012

Variant appearance in text: rs6855911
PubMed Link: 23272134
Variant Present in the following documents:
  • Main text
  • pone.0051658.pdf
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The genetics of hyperuricaemia and gout.

Nature Reviews. Rheumatology
Reginato, Anthony M AM; Mount, David B DB; Yang, Irene I; Choi, Hyon K HK
Publication Date: 2012-10

Variant appearance in text: rs6855911
PubMed Link: 22945592
Variant Present in the following documents:
  • Main text
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Serum uric acid and adiposity: deciphering causality using a bidirectional Mendelian randomization approach.

Plos One
Lyngdoh, Tanica T; Vuistiner, Philippe P; Marques-Vidal, Pedro P; Rousson, Valentin V; Waeber, Gérard G; Vollenweider, Peter P; Bochud, Murielle M
Publication Date: 2012

Variant appearance in text: rs6855911
PubMed Link: 22723994
Variant Present in the following documents:
  • Main text
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Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.

Annals Of Human Genetics
Karns, Rebekah R; Zhang, Ge G; Sun, Guangyun G; Rao Indugula, Subba S; Cheng, Hong H; Havas-Augustin, Dubravka D; Novokmet, Natalija N; Rudan, Dusko D; Durakovic, Zijad Z; Missoni, Sasa S; Chakraborty, Ranajit R; Rudan, Pavao P; Deka, Ranjan R
Publication Date: 2012-03

Variant appearance in text: rs6855911
PubMed Link: 22229870
Variant Present in the following documents:
  • Main text
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The SLC2A9 nonsynonymous Arg265His variant and gout: evidence for a population-specific effect on severity.

Arthritis Research & Therapy
Hollis-Moffatt, Jade E JE; Gow, Peter J PJ; Harrison, Andrew A AA; Highton, John J; Jones, Peter B B PB; Stamp, Lisa K LK; Dalbeth, Nicola N; Merriman, Tony R TR
Publication Date: 2011-06-09

Variant appearance in text: rs6855911
PubMed Link: 21658257
Variant Present in the following documents:
  • Main text
  • ar3356.pdf
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Genome-wide scan identifies a quantitative trait locus at 4p15.3 for serum urate.

European Journal Of Human Genetics : Ejhg
Cummings, Nik N; Dyer, Thomas D TD; Kotea, Navaratnam N; Kowlessur, Sudhir S; Chitson, Pierrot P; Zimmet, Paul P; Blangero, John J; Jowett, Jeremy B M JB
Publication Date: 2010-11

Variant appearance in text: rs6855911
PubMed Link: 20588307
Variant Present in the following documents:
  • Main text
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Sex and age interaction with genetic association of atherogenic uric acid concentrations.

Atherosclerosis
Brandstätter, Anita A; Lamina, Claudia C; Kiechl, Stefan S; Hunt, Steven C SC; Coassin, Stefan S; Paulweber, Bernhard B; Kramer, Felix F; Summerer, Monika M; Willeit, Johann J; Kedenko, Lyudmyla L; Adams, Ted D TD; Kronenberg, Florian F
Publication Date: 2010-06

Variant appearance in text: rs6855911
PubMed Link: 20053405
Variant Present in the following documents:
  • Main text
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Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease.

Plos One
Stark, Klaus K; Reinhard, Wibke W; Grassl, Martina M; Erdmann, Jeanette J; Schunkert, Heribert H; Illig, Thomas T; Hengstenberg, Christian C
Publication Date: 2009-11-05

Variant appearance in text: rs6855911
PubMed Link: 19890391
Variant Present in the following documents:
  • Main text
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Facilitative glucose transporter 9, a unique hexose and urate transporter.

American Journal Of Physiology. Endocrinology And Metabolism
Doblado, Manuel M; Moley, Kelle H KH
Publication Date: 2009-10

Variant appearance in text: rs6855911
PubMed Link: 19797240
Variant Present in the following documents:
  • Main text
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Using new tools to define the genetic underpinnings of risky traits associated with coronary artery disease: the SardiNIA study.

Trends In Cardiovascular Medicine
Strait, James B JB; Uda, Manuela M; Lakatta, Edward G EG; Najjar, Samer S SS
Publication Date: 2009-04

Variant appearance in text: rs6855911
PubMed Link: 19679263
Variant Present in the following documents:
  • Main text
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Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.

Human Molecular Genetics
Mohlke, Karen L KL; Boehnke, Michael M; Abecasis, Gonçalo R GR
Publication Date: 2008-10-15

Variant appearance in text: rs6855911
PubMed Link: 18852197
Variant Present in the following documents:
  • Main text
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SLC2A9--a fructose transporter identified as a novel uric acid transporter.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Le, Myphuong T MT; Shafiu, Mohamed M; Mu, Wei W; Johnson, Richard J RJ
Publication Date: 2008-09

Variant appearance in text: rs6855911
PubMed Link: 18606621
Variant Present in the following documents:
  • Main text
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Sex-specific association of the putative fructose transporter SLC2A9 variants with uric acid levels is modified by BMI.

Diabetes Care
Brandstätter, Anita A; Kiechl, Stefan S; Kollerits, Barbara B; Hunt, Steven C SC; Heid, Iris M IM; Coassin, Stefan S; Willeit, Johann J; Adams, Ted D TD; Illig, Thomas T; Hopkins, Paul N PN; Kronenberg, Florian F
Publication Date: 2008-08

Variant appearance in text: rs6855911
PubMed Link: 18487473
Variant Present in the following documents:
  • Main text
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Association of common polymorphisms in GLUT9 gene with gout but not with coronary artery disease in a large case-control study.

Plos One
Stark, Klaus K; Reinhard, Wibke W; Neureuther, Katharina K; Wiedmann, Silke S; Sedlacek, Kamil K; Baessler, Andrea A; Fischer, Marcus M; Weber, Stefan S; Kaess, Bernhard B; Erdmann, Jeanette J; Schunkert, Heribert H; Hengstenberg, Christian C
Publication Date: 2008-04-09

Variant appearance in text: rs6855911
PubMed Link: 18398472
Variant Present in the following documents:
  • Main text
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The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.

Plos Genetics
Li, Siguang S; Sanna, Serena S; Maschio, Andrea A; Busonero, Fabio F; Usala, Gianluca G; Mulas, Antonella A; Lai, Sandra S; Dei, Mariano M; Orrù, Marco M; Albai, Giuseppe G; Bandinelli, Stefania S; Schlessinger, David D; Lakatta, Edward E; Scuteri, Angelo A; Najjar, Samer S SS; Guralnik, Jack J; Naitza, Silvia S; Crisponi, Laura L; Cao, Antonio A; Abecasis, Gonçalo G; Ferrucci, Luigi L; Uda, Manuela M; Chen, Wei-Min WM; Nagaraja, Ramaiah R
Publication Date: 2007-11

Variant appearance in text: rs6855911
PubMed Link: 17997608
Variant Present in the following documents:
  • Main text
  • pgen.0030194.pdf
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