PTPN2 c.495+4216T>C

Variant ID: 18-12821593-A-G

NM_002828.3(PTPN2):c.495+4216T>C

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control.

Diabetologia
Tremblay, Johanne J; Haloui, Mounsif M; Attaoua, Redha R; Tahir, Ramzan R; Hishmih, Camil C; Harvey, François F; Marois-Blanchet, François-Christophe FC; Long, Carole C; Simon, Paul P; Santucci, Lara L; Hizel, Candan C; Chalmers, John J; Marre, Michel M; Harrap, Stephen S; Cífková, Renata R; Krajčoviechová, Alena A; Matthews, David R DR; Williams, Bryan B; Poulter, Neil N; Zoungas, Sophia S; Colagiuri, Stephen S; Mancia, Giuseppe G; Grobbee, Diederick E DE; Rodgers, Anthony A; Liu, Liusheng L; Agbessi, Mawussé M; Bruat, Vanessa V; Favé, Marie-Julie MJ; Harwood, Michelle P MP; Awadalla, Philip P; Woodward, Mark M; Hussin, Julie G JG; Hamet, Pavel P
Publication Date: 2021-09

Variant appearance in text: rs2847281
PubMed Link: 34226943
Variant Present in the following documents:
  • 125_2021_5491_MOESM1_ESM.pdf
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Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: rs2847281
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
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Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.

Nature Genetics
Robertson, Catherine C CC; Inshaw, Jamie R J JRJ; Onengut-Gumuscu, Suna S; Chen, Wei-Min WM; Santa Cruz, David Flores DF; Yang, Hanzhi H; Cutler, Antony J AJ; Crouch, Daniel J M DJM; Farber, Emily E; Bridges, S Louis SL; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Buckner, Jane H JH; Deloukas, Panos P; Divers, Jasmin J; Dabelea, Dana D; Lawrence, Jean M JM; Marcovina, Santica S; Shah, Amy S AS; Greenbaum, Carla J CJ; Atkinson, Mark A MA; Gregersen, Peter K PK; Oksenberg, Jorge R JR; Pociot, Flemming F; Rewers, Marian J MJ; Steck, Andrea K AK; Dunger, David B DB; , ; Wicker, Linda S LS; Concannon, Patrick P; Todd, John A JA; Rich, Stephen S SS
Publication Date: 2021-07

Variant appearance in text: rs2847281
PubMed Link: 34127860
Variant Present in the following documents:
  • EMS123940-supplement-Supplementary_Tables.xlsx, sheet 14
View BVdb publication page



Increased Plasma Soluble Interleukin-2 Receptor Alpha Levels in Patients With Long-Term Type 1 Diabetes With Vascular Complications Associated With IL2RA and PTPN2 Gene Polymorphisms.

Frontiers In Endocrinology
Keindl, Magdalena M; Fedotkina, Olena O; du Plessis, Elsa E; Jain, Ruchi R; Bergum, Brith B; Mygind Jensen, Troels T; Laustrup Møller, Cathrine C; Falhammar, Henrik H; Nyström, Thomas T; Catrina, Sergiu-Bogdan SB; Jörneskog, Gun G; Groop, Leif L; Eliasson, Mats M; Eliasson, Björn B; Brismar, Kerstin K; Nilsson, Peter M PM; Berg, Tore Julsrud TJ; Appel, Silke S; Lyssenko, Valeriya V
Publication Date: 2020

Variant appearance in text: rs2847281
PubMed Link: 33193091
Variant Present in the following documents:
  • Main text
  • fendo-11-575469.pdf
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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs2847281
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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The impact of proinflammatory cytokines on the β-cell regulatory landscape provides insights into the genetics of type 1 diabetes.

Nature Genetics
Ramos-Rodríguez, Mireia M; Raurell-Vila, Helena H; Colli, Maikel L ML; Alvelos, Maria Inês MI; Subirana-Granés, Marc M; Juan-Mateu, Jonàs J; Norris, Richard R; Turatsinze, Jean-Valery JV; Nakayasu, Ernesto S ES; Webb-Robertson, Bobbie-Jo M BM; Inshaw, Jamie R J JRJ; Marchetti, Piero P; Piemonti, Lorenzo L; Esteller, Manel M; Todd, John A JA; Metz, Thomas O TO; Eizirik, Décio L DL; Pasquali, Lorenzo L
Publication Date: 2019-11

Variant appearance in text: rs2847281
PubMed Link: 31676868
Variant Present in the following documents:
  • NIHMS1540810-supplement-1.pdf
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Causal Factors for Knee, Hip, and Hand Osteoarthritis: A Mendelian Randomization Study in the UK Biobank.

Arthritis & Rheumatology (Hoboken, N.J.)
Funck-Brentano, Thomas T; Nethander, Maria M; Movérare-Skrtic, Sofia S; Richette, Pascal P; Ohlsson, Claes C
Publication Date: 2019-10

Variant appearance in text: rs2847281
PubMed Link: 31099188
Variant Present in the following documents:
  • ART-71-1634-s001.pdf
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Cumulative evidence for association between genetic polymorphisms and esophageal cancer susceptibility: A review with evidence from meta-analysis and genome-wide association studies.

Cancer Medicine
Tian, Jie J; Liu, Caiyang C; Liu, Guanchu G; Zuo, Chunjian C; Chen, Huanwen H
Publication Date: 2019-03

Variant appearance in text: rs2847281
PubMed Link: 30793520
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mendelian randomization analysis of C-reactive protein on colorectal cancer risk.

International Journal Of Epidemiology
Wang, Xiaoliang X; Dai, James Y JY; Albanes, Demetrius D; Arndt, Volker V; Berndt, Sonja I SI; Bézieau, Stéphane S; Brenner, Hermann H; Buchanan, Daniel D DD; Butterbach, Katja K; Caan, Bette B; Casey, Graham G; Campbell, Peter T PT; Chan, Andrew T AT; Chen, Zhengyi Z; Chang-Claude, Jenny J; Cotterchio, Michelle M; Easton, Douglas F DF; Giles, Graham G GG; Giovannucci, Edward E; Grady, William M WM; Hoffmeister, Michael M; Hopper, John L JL; Hsu, Li L; Jenkins, Mark A MA; Joshi, Amit D AD; Lampe, Johanna W JW; Larsson, Susanna C SC; Lejbkowicz, Flavio F; Li, Li L; Lindblom, Annika A; Le Marchand, Loic L; Martin, Vicente V; Milne, Roger L RL; Moreno, Victor V; Newcomb, Polly A PA; Offitt, Kenneth K; Ogino, Shuji S; Pharoah, Paul D P PDP; Pinchev, Mila M; Potter, John D JD; Rennert, Hedy S HS; Rennert, Gad G; Saliba, Walid W; Schafmayer, Clemens C; Schoen, Robert E RE; Schrotz-King, Petra P; Slattery, Martha L ML; Song, Mingyang M; Stegmaier, Christa C; Weinstein, Stephanie J SJ; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Gruber, Stephen B SB; Peters, Ulrike U; White, Emily E
Publication Date: 2019-06-01

Variant appearance in text: rs2847281
PubMed Link: 30476131
Variant Present in the following documents:
  • Main text
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Inflammatory Biomarkers and Risk of Schizophrenia: A 2-Sample Mendelian Randomization Study.

Jama Psychiatry
Hartwig, Fernando Pires FP; Borges, Maria Carolina MC; Horta, Bernardo Lessa BL; Bowden, Jack J; Davey Smith, George G
Publication Date: 2017-12-01

Variant appearance in text: rs2847281
PubMed Link: 29094161
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inflammation and bone mineral density: A Mendelian randomization study.

Scientific Reports
Huang, Jian V JV; Schooling, C Mary CM
Publication Date: 2017-08-17

Variant appearance in text: rs2847281
PubMed Link: 28819125
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_9080.pdf
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ADH1B and CDH1 polymorphisms predict prognosis in male patients with non-metastatic laryngeal cancer.

Oncotarget
Li, Daxu D; Zhang, Ruizhi R; Jin, Tianbo T; He, Na N; Ren, Le L; Zhang, Zhe Z; Zhang, Qingna Q; Xu, Ran R; Tao, Hong H; Zeng, Guang G; Gao, Jing J
Publication Date: 2016-11-08

Variant appearance in text: rs2847281
PubMed Link: 27689323
Variant Present in the following documents:
  • Main text
  • oncotarget-07-73216.pdf
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Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study.

Plos Medicine
Prins, Bram P BP; Abbasi, Ali A; Wong, Anson A; Vaez, Ahmad A; Nolte, Ilja I; Franceschini, Nora N; Stuart, Philip E PE; Guterriez Achury, Javier J; Mistry, Vanisha V; Bradfield, Jonathan P JP; Valdes, Ana M AM; Bras, Jose J; Shatunov, Aleksey A; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Lu, Chen C; Han, Buhm B; Raychaudhuri, Soumya S; Bevan, Steve S; Mayes, Maureen D MD; Tsoi, Lam C LC; Evangelou, Evangelos E; Nair, Rajan P RP; Grant, Struan F A SF; Polychronakos, Constantin C; Radstake, Timothy R D TR; van Heel, David A DA; Dunstan, Melanie L ML; Wood, Nicholas W NW; Al-Chalabi, Ammar A; Dehghan, Abbas A; Hakonarson, Hakon H; Markus, Hugh S HS; Elder, James T JT; Knight, Jo J; Arking, Dan E DE; Spector, Timothy D TD; Koeleman, Bobby P C BP; van Duijn, Cornelia M CM; Martin, Javier J; Morris, Andrew P AP; Weersma, Rinse K RK; Wijmenga, Cisca C; Munroe, Patricia B PB; Perry, John R B JR; Pouget, Jennie G JG; Jamshidi, Yalda Y; Snieder, Harold H; Alizadeh, Behrooz Z BZ
Publication Date: 2016-06

Variant appearance in text: rs2847281
PubMed Link: 27327646
Variant Present in the following documents:
  • Main text
  • pmed.1001976.pdf
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Genetic variants at 6p21, 10q23, 16q21 and 22q12 are associated with esophageal cancer risk in a Chinese Han population.

International Journal Of Clinical And Experimental Medicine
Jia, Xiaobin X; Liu, Peng P; Zhang, Mingxia M; Feng, Tian T; Tang, Hongtao H; Tang, Zhigang Z; Zhao, Huaqian H; Jin, Tianbo T
Publication Date: 2015

Variant appearance in text: rs2847281
PubMed Link: 26770579
Variant Present in the following documents:
  • Main text
View BVdb publication page



Vitamin D and C-Reactive Protein: A Mendelian Randomization Study.

Plos One
Liefaard, Marte C MC; Ligthart, Symen S; Vitezova, Anna A; Hofman, Albert A; Uitterlinden, André G AG; Kiefte-de Jong, Jessica C JC; Franco, Oscar H OH; Zillikens, M Carola MC; Dehghan, Abbas A
Publication Date: 2015

Variant appearance in text: rs2847281
PubMed Link: 26147588
Variant Present in the following documents:
  • Main text
  • pone.0131740.pdf
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Plasma C-reactive protein, genetic risk score, and risk of common cancers in the Atherosclerosis Risk in Communities study.

Cancer Causes & Control : Ccc
Prizment, Anna E AE; Folsom, Aaron R AR; Dreyfus, Jill J; Anderson, Kristin E KE; Visvanathan, Kala K; Joshu, Corinne E CE; Platz, Elizabeth A EA; Pankow, James S JS
Publication Date: 2013-12

Variant appearance in text: rs2847281
PubMed Link: 24036889
Variant Present in the following documents:
  • Main text
View BVdb publication page



Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?

Plos One
Dorajoo, Rajkumar R; Li, Ruoying R; Ikram, Mohammad Kamran MK; Liu, Jianjun J; Froguel, Philippe P; Lee, Jeannette J; Sim, Xueling X; Ong, Rick Twee-Hee RT; Tay, Wan Ting WT; Peng, Chen C; Young, Terri L TL; Blakemore, Alexandra I F AI; Cheng, Ching Yu CY; Aung, Tin T; Mitchell, Paul P; Wang, Jie Jin JJ; Klaver, Caroline C CC; Boerwinkle, Eric E; Klein, Ronald R; Siscovick, David S DS; Jensen, Richard A RA; Gudnason, Vilmundur V; Smith, Albert Vernon AV; Teo, Yik Ying YY; Wong, Tien Yin TY; Tai, E-Shyong ES; Heng, Chew-Kiat CK; Friedlander, Yechiel Y
Publication Date: 2013

Variant appearance in text: rs2847281
PubMed Link: 23844046
Variant Present in the following documents:
  • Main text
  • pone.0067650.pdf
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Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.

Circulation
Dehghan, Abbas A; Dupuis, Josée J; Barbalic, Maja M; Bis, Joshua C JC; Eiriksdottir, Gudny G; Lu, Chen C; Pellikka, Niina N; Wallaschofski, Henri H; Kettunen, Johannes J; Henneman, Peter P; Baumert, Jens J; Strachan, David P DP; Fuchsberger, Christian C; Vitart, Veronique V; Wilson, James F JF; Paré, Guillaume G; Naitza, Silvia S; Rudock, Megan E ME; Surakka, Ida I; de Geus, Eco J C EJ; Alizadeh, Behrooz Z BZ; Guralnik, Jack J; Shuldiner, Alan A; Tanaka, Toshiko T; Zee, Robert Y L RY; Schnabel, Renate B RB; Nambi, Vijay V; Kavousi, Maryam M; Ripatti, Samuli S; Nauck, Matthias M; Smith, Nicholas L NL; Smith, Albert V AV; Sundvall, Jouko J; Scheet, Paul P; Liu, Yongmei Y; Ruokonen, Aimo A; Rose, Lynda M LM; Larson, Martin G MG; Hoogeveen, Ron C RC; Freimer, Nelson B NB; Teumer, Alexander A; Tracy, Russell P RP; Launer, Lenore J LJ; Buring, Julie E JE; Yamamoto, Jennifer F JF; Folsom, Aaron R AR; Sijbrands, Eric J G EJ; Pankow, James J; Elliott, Paul P; Keaney, John F JF; Sun, Wei W; Sarin, Antti-Pekka AP; Fontes, João D JD; Badola, Sunita S; Astor, Brad C BC; Hofman, Albert A; Pouta, Anneli A; Werdan, Karl K; Greiser, Karin H KH; Kuss, Oliver O; Meyer zu Schwabedissen, Henriette E HE; Thiery, Joachim J; Jamshidi, Yalda Y; Nolte, Ilja M IM; Soranzo, Nicole N; Spector, Timothy D TD; Völzke, Henry H; Parker, Alexander N AN; Aspelund, Thor T; Bates, David D; Young, Lauren L; Tsui, Kim K; Siscovick, David S DS; Guo, Xiuqing X; Rotter, Jerome I JI; Uda, Manuela M; Schlessinger, David D; Rudan, Igor I; Hicks, Andrew A AA; Penninx, Brenda W BW; Thorand, Barbara B; Gieger, Christian C; Coresh, Joe J; Willemsen, Gonneke G; Harris, Tamara B TB; Uitterlinden, Andre G AG; Järvelin, Marjo-Riitta MR; Rice, Kenneth K; Radke, Dörte D; Salomaa, Veikko V; Willems van Dijk, Ko K; Boerwinkle, Eric E; Vasan, Ramachandran S RS; Ferrucci, Luigi L; Gibson, Quince D QD; Bandinelli, Stefania S; Snieder, Harold H; Boomsma, Dorret I DI; Xiao, Xiangjun X; Campbell, Harry H; Hayward, Caroline C; Pramstaller, Peter P PP; van Duijn, Cornelia M CM; Peltonen, Leena L; Psaty, Bruce M BM; Gudnason, Vilmundur V; Ridker, Paul M PM; Homuth, Georg G; Koenig, Wolfgang W; Ballantyne, Christie M CM; Witteman, Jacqueline C M JC; Benjamin, Emelia J EJ; Perola, Markus M; Chasman, Daniel I DI
Publication Date: 2011-02-22

Variant appearance in text: rs2847281
PubMed Link: 21300955
Variant Present in the following documents:
  • Main text
View BVdb publication page