SLC16A9 c.1351+80T>C

Variant ID: 10-61413353-A-G

NM_194298.2(SLC16A9):c.1351+80T>C

This variant was identified in 29 publications

View GRCh38 version.




Publications:


Novel Insights into the Effects of Genetic Variants on Serum Urate Response to an Acute Fructose Challenge: A Pilot Study.

Nutrients
Zhang, Xinruo X; Mass, Baba B BB; Talevi, Valentina V; Hou, Ruixue R; North, Kari E KE; Voruganti, Venkata Saroja VS
Publication Date: 2022-09-28

Variant appearance in text: rs12356193
PubMed Link: 36235682
Variant Present in the following documents:
  • nutrients-14-04030.pdf
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Trends in the Contribution of Genetic Susceptibility Loci to Hyperuricemia and Gout and Associated Novel Mechanisms.

Frontiers In Cell And Developmental Biology
Zhao, Jianan J; Guo, Shicheng S; Schrodi, Steven J SJ; He, Dongyi D
Publication Date: 2022

Variant appearance in text: rs12356193
PubMed Link: 35813212
Variant Present in the following documents:
  • Main text
  • fcell-10-937855.pdf
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Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites.

American Journal Of Human Genetics
Bomba, Lorenzo L; Walter, Klaudia K; Guo, Qi Q; Surendran, Praveen P; Kundu, Kousik K; Nongmaithem, Suraj S; Karim, Mohd Anisul MA; Stewart, Isobel D ID; Langenberg, Claudia C; Danesh, John J; Di Angelantonio, Emanuele E; Roberts, David J DJ; Ouwehand, Willem H WH; , ; Dunham, Ian I; Butterworth, Adam S AS; Soranzo, Nicole N
Publication Date: 2022-06-02

Variant appearance in text: rs12356193
PubMed Link: 35568032
Variant Present in the following documents:
  • mmc1.pdf
  • mmc12.pdf
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Large-scale genetic correlation scanning and causal association between deep vein thrombosis and human blood metabolites.

Scientific Reports
Luo, Pan P; Xu, Jiawen J; Cheng, Shiqiang S; Xu, Ke K; Jing, Wensen W; Zhang, Feng F; Xu, Peng P
Publication Date: 2022-05-12

Variant appearance in text: rs12356193
PubMed Link: 35551264
Variant Present in the following documents:
  • Main text
  • 41598_2022_Article_12021.pdf
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Causal Inference of Carnitine on Blood Pressure and potential mediation by uric acid: A mendelian randomization analysis.

International Journal Of Cardiology. Cardiovascular Risk And Prevention
Richard, Melissa A MA; Lupo, Philip J PJ; Zachariah, Justin P JP
Publication Date: 2021-12

Variant appearance in text: rs12356193
PubMed Link: 34901954
Variant Present in the following documents:
  • Main text
  • main.pdf
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Evidence for Urate Uptake Through Monocarboxylate Transporter 9 Expressed in Mammalian Cells and Its Enhancement by Heat Shock.

Circulation Reports
Otani, Naoyuki N; Kurata, Yasutaka Y; Maharani, Nani N; Kuwabara, Masanari M; Ikeda, Nobuhito N; Notsu, Tomomi T; Li, Peili P; Miake, Junichiro J; Yoshida, Akio A; Sakaguchi, Hiromi H; Higaki, Katsumi K; Nakasone, Naoe N; Tsuneto, Motokazu M; Shirayoshi, Yasuaki Y; Ouchi, Motoshi M; Ninomiya, Haruaki H; Yamamoto, Kazuhiro K; Anzai, Naohiko N; Hisatome, Ichiro I
Publication Date: 2020-07-02

Variant appearance in text: rs12356193
PubMed Link: 33693264
Variant Present in the following documents:
  • Main text
  • circrep-2-425.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: rs12356193
PubMed Link: 32630231
Variant Present in the following documents:
  • ijms-21-04702-s001.pdf
View BVdb publication page



Unique insights from ClinicalTrials.gov by mining protein mutations and RSids in addition to applying the Human Phenotype Ontology.

Plos One
Alag, Shray S
Publication Date: 2020

Variant appearance in text: rs12356193
PubMed Link: 32459809
Variant Present in the following documents:
  • Main text
  • pone.0233438.pdf
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Whole-Exome Sequencing Reveals a Rare Missense Variant in SLC16A9 in a Pedigree with Early-Onset Gout.

Biomed Research International
Huang, Xiu-Feng XF; Sun, Li L; Zhang, Chunwu C; Zhou, Zhenni Z; Chen, Hui H; Zhang, Linhua L; Brown, Matthew A MA; Xia, Xiaoru X
Publication Date: 2020

Variant appearance in text: rs12356193
PubMed Link: 32090094
Variant Present in the following documents:
  • Main text
  • BMRI2020-4321419.pdf
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Metabolic dysregulation in vitamin E and carnitine shuttle energy mechanisms associate with human frailty.

Nature Communications
Rattray, Nicholas J W NJW; Trivedi, Drupad K DK; Xu, Yun Y; Chandola, Tarani T; Johnson, Caroline H CH; Marshall, Alan D AD; Mekli, Krisztina K; Rattray, Zahra Z; Tampubolon, Gindo G; Vanhoutte, Bram B; White, Iain R IR; Wu, Frederick C W FCW; Pendleton, Neil N; Nazroo, James J; Goodacre, Royston R
Publication Date: 2019-11-05

Variant appearance in text: rs12356193
PubMed Link: 31690722
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_12716.pdf
  • 41467_2019_12716_MOESM1_ESM.pdf
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A network-based conditional genetic association analysis of the human metabolome.

Gigascience
Tsepilov, Y A YA; Sharapov, S Z SZ; Zaytseva, O O OO; Krumsiek, J J; Prehn, C C; Adamski, J J; Kastenmüller, G G; Wang-Sattler, R R; Strauch, K K; Gieger, C C; Aulchenko, Y S YS
Publication Date: 2018-12-01

Variant appearance in text: rs12356193
PubMed Link: 30496450
Variant Present in the following documents:
  • Main text
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Clinical and Functional Relevance of the Monocarboxylate Transporter Family in Disease Pathophysiology and Drug Therapy.

Clinical And Translational Science
Fisel, Pascale P; Schaeffeler, Elke E; Schwab, Matthias M
Publication Date: 2018-07

Variant appearance in text: rs12356193
PubMed Link: 29660777
Variant Present in the following documents:
  • Main text
View BVdb publication page



Covariate selection for association screening in multiphenotype genetic studies.

Nature Genetics
Aschard, Hugues H; Guillemot, Vincent V; Vilhjalmsson, Bjarni B; Patel, Chirag J CJ; Skurnik, David D; Ye, Chun J CJ; Wolpin, Brian B; Kraft, Peter P; Zaitlen, Noah N
Publication Date: 2017-12

Variant appearance in text: rs12356193
PubMed Link: 29038595
Variant Present in the following documents:
  • NIHMS908080-supplement-1.pdf
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Interaction of the GCKR and A1CF loci with alcohol consumption to influence the risk of gout.

Arthritis Research & Therapy
Rasheed, Humaira H; Stamp, Lisa K LK; Dalbeth, Nicola N; Merriman, Tony R TR
Publication Date: 2017-07-05

Variant appearance in text: rs12356193
PubMed Link: 28679452
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs12356193
PubMed Link: 28642574
Variant Present in the following documents:
View BVdb publication page



Characterizing Blood Metabolomics Profiles Associated with Self-Reported Food Intakes in Female Twins.

Plos One
Pallister, Tess T; Jennings, Amy A; Mohney, Robert P RP; Yarand, Darioush D; Mangino, Massimo M; Cassidy, Aedin A; MacGregor, Alexander A; Spector, Tim D TD; Menni, Cristina C
Publication Date: 2016

Variant appearance in text: rs12356193
PubMed Link: 27355821
Variant Present in the following documents:
  • Main text
  • pone.0158568.pdf
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SHEsisPlus, a toolset for genetic studies on polyploid species.

Scientific Reports
Shen, Jiawei J; Li, Zhiqiang Z; Chen, Jianhua J; Song, Zhijian Z; Zhou, Zhaowei Z; Shi, Yongyong Y
Publication Date: 2016-04-06

Variant appearance in text: rs12356193
PubMed Link: 27048905
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome wide association study of uric acid in Indian population and interaction of identified variants with Type 2 diabetes.

Scientific Reports
Giri, Anil K AK; Banerjee, Priyanka P; Chakraborty, Shraddha S; Kauser, Yasmeen Y; Undru, Aditya A; Roy, Suki S; Parekatt, Vaisak V; Ghosh, Saurabh S; Tandon, Nikhil N; Bharadwaj, Dwaipayan D
Publication Date: 2016-02-23

Variant appearance in text: rs12356193
PubMed Link: 26902266
Variant Present in the following documents:
  • Main text
  • srep21440.pdf
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Mendelian randomization studies of biomarkers and type 2 diabetes.

Endocrine Connections
Abbasi, Ali A
Publication Date: 2015-12

Variant appearance in text: rs12356193
PubMed Link: 26446360
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs12356193
PubMed Link: 26290326
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses.

Plos Genetics
Demirkan, Ayşe A; Henneman, Peter P; Verhoeven, Aswin A; Dharuri, Harish H; Amin, Najaf N; van Klinken, Jan Bert JB; Karssen, Lennart C LC; de Vries, Boukje B; Meissner, Axel A; Göraler, Sibel S; van den Maagdenberg, Arn M J M AM; Deelder, André M AM; C 't Hoen, Peter A PA; van Duijn, Cornelia M CM; van Dijk, Ko Willems KW
Publication Date: 2015-01

Variant appearance in text: rs12356193
PubMed Link: 25569235
Variant Present in the following documents:
  • pgen.1004835.s003.pdf
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A genome-wide association study identifies common variants influencing serum uric acid concentrations in a Chinese population.

Bmc Medical Genomics
Yang, Binyao B; Mo, Zengnan Z; Wu, Chen C; Yang, Handong H; Yang, Xiaobo X; He, Yunfeng Y; Gui, Lixuan L; Zhou, Li L; Guo, Huan H; Zhang, Xiaomin X; Yuan, Jing J; Dai, Xiayun X; Li, Jun J; Qiu, Gaokun G; Huang, Suli S; Deng, Qifei Q; Feng, Yingying Y; Guan, Lei L; Hu, Die D; Zhang, Xiao X; Wang, Tian T; Zhu, Jiang J; Min, Xinwen X; Lang, Mingjian M; Li, Dongfeng D; Hu, Frank B FB; Lin, Dongxin D; Wu, Tangchun T; He, Meian M
Publication Date: 2014-02-11

Variant appearance in text: rs12356193
PubMed Link: 24513273
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.

Frontiers In Genetics
Simino, Jeannette J; Sung, Yun Ju YJ; Kume, Rezart R; Schwander, Karen K; Rao, D C DC
Publication Date: 2013

Variant appearance in text: rs12356193
PubMed Link: 24376456
Variant Present in the following documents:
  • Main text
  • fgene-04-00277.pdf
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Common missense variant of monocarboxylate transporter 9 (MCT9/SLC16A9) gene is associated with renal overload gout, but not with all gout susceptibility.

Human Cell
Nakayama, Akiyoshi A; Matsuo, Hirotaka H; Shimizu, Takuya T; Ogata, Hiraku H; Takada, Yuzo Y; Nakashima, Hiroshi H; Nakamura, Takahiro T; Shimizu, Seiko S; Chiba, Toshinori T; Sakiyama, Masayuki M; Ushiyama, Chisaki C; Takada, Tappei T; Inoue, Katsuhisa K; Kawai, Sayo S; Hishida, Asahi A; Wakai, Kenji K; Hamajima, Nobuyuki N; Ichida, Kimiyoshi K; Sakurai, Yutaka Y; Kato, Yukio Y; Shimizu, Toru T; Shinomiya, Nariyoshi N
Publication Date: 2013-12

Variant appearance in text: rs12356193
PubMed Link: 23990105
Variant Present in the following documents:
  • Main text
  • 13577_2013_Article_73.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: rs12356193
PubMed Link: 22945592
Variant Present in the following documents:
  • Main text
View BVdb publication page



Instrumental variable estimation of the causal effect of plasma 25-hydroxy-vitamin D on colorectal cancer risk: a mendelian randomization analysis.

Plos One
Theodoratou, Evropi E; Palmer, Tom T; Zgaga, Lina L; Farrington, Susan M SM; McKeigue, Paul P; Din, Farhat V N FV; Tenesa, Albert A; Davey-Smith, George G; Dunlop, Malcolm G MG; Campbell, Harry H
Publication Date: 2012

Variant appearance in text: rs12356193
PubMed Link: 22701574
Variant Present in the following documents:
View BVdb publication page



Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.

Human Molecular Genetics
Tin, Adrienne A; Woodward, Owen M OM; Kao, Wen Hong Linda WH; Liu, Ching-Ti CT; Lu, Xiaoning X; Nalls, Michael A MA; Shriner, Daniel D; Semmo, Mariam M; Akylbekova, Ermeg L EL; Wyatt, Sharon B SB; Hwang, Shih-Jen SJ; Yang, Qiong Q; Zonderman, Alan B AB; Adeyemo, Adebowale A AA; Palmer, Cameron C; Meng, Yan Y; Reilly, Muredach M; Shlipak, Michael G MG; Siscovick, David D; Evans, Michele K MK; Rotimi, Charles N CN; Flessner, Michael F MF; Köttgen, Michael M; Cupples, L Adrienne LA; Fox, Caroline S CS; Köttgen, Anna A; ,
Publication Date: 2011-10-15

Variant appearance in text: rs12356193
PubMed Link: 21768215
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: rs12356193
PubMed Link: 19890391
Variant Present in the following documents:
  • Main text
  • pone.0007729.pdf
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Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.

Plos Genetics
Kolz, Melanie M; Johnson, Toby T; Sanna, Serena S; Teumer, Alexander A; Vitart, Veronique V; Perola, Markus M; Mangino, Massimo M; Albrecht, Eva E; Wallace, Chris C; Farrall, Martin M; Johansson, Asa A; Nyholt, Dale R DR; Aulchenko, Yurii Y; Beckmann, Jacques S JS; Bergmann, Sven S; Bochud, Murielle M; Brown, Morris M; Campbell, Harry H; , ; Connell, John J; Dominiczak, Anna A; Homuth, Georg G; Lamina, Claudia C; McCarthy, Mark I MI; , ; Meitinger, Thomas T; Mooser, Vincent V; Munroe, Patricia P; Nauck, Matthias M; Peden, John J; Prokisch, Holger H; Salo, Perttu P; Salomaa, Veikko V; Samani, Nilesh J NJ; Schlessinger, David D; Uda, Manuela M; Völker, Uwe U; Waeber, Gérard G; Waterworth, Dawn D; Wang-Sattler, Rui R; Wright, Alan F AF; Adamski, Jerzy J; Whitfield, John B JB; Gyllensten, Ulf U; Wilson, James F JF; Rudan, Igor I; Pramstaller, Peter P; Watkins, Hugh H; , ; Doering, Angela A; Wichmann, H-Erich HE; , ; Spector, Tim D TD; Peltonen, Leena L; Völzke, Henry H; Nagaraja, Ramaiah R; Vollenweider, Peter P; Caulfield, Mark M; , ; Illig, Thomas T; Gieger, Christian C
Publication Date: 2009-06

Variant appearance in text: rs12356193
PubMed Link: 19503597
Variant Present in the following documents:
  • Main text
View BVdb publication page