PTPN22 c.2282-1183C>T

Variant ID: 1-114363459-G-A

NM_015967.5(PTPN22):c.2282-1183C>T

This variant was identified in 12 publications

View GRCh38 version.




Publications:


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: rs2476599
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



PTPN22 Gene Polymorphisms Are Associated with Susceptibility to Large Artery Atherosclerotic Stroke and Microembolic Signals.

Disease Markers
Zhou, Lingyan L; Wang, Kun K; Wang, Junhong J; Zhou, Zhenfeng Z; Cheng, Yufei Y; Pan, Xudong X; Ma, Aijun A
Publication Date: 2019

Variant appearance in text: rs2476599
PubMed Link: 31191743
Variant Present in the following documents:
  • Main text
  • DM2019-2193835.pdf
View BVdb publication page



Uncovering the complex genetics of human character.

Molecular Psychiatry
Zwir, Igor I; Arnedo, Javier J; Del-Val, Coral C; Pulkki-Råback, Laura L; Konte, Bettina B; Yang, Sarah S SS; Romero-Zaliz, Rocio R; Hintsanen, Mirka M; Cloninger, Kevin M KM; Garcia, Danilo D; Svrakic, Dragan M DM; Rozsa, Sandor S; Martinez, Maribel M; Lyytikäinen, Leo-Pekka LP; Giegling, Ina I; Kähönen, Mika M; Hernandez-Cuervo, Helena H; Seppälä, Ilkka I; Raitoharju, Emma E; de Erausquin, Gabriel A GA; Raitakari, Olli O; Rujescu, Dan D; Postolache, Teodor T TT; Sung, Joohon J; Keltikangas-Järvinen, Liisa L; Lehtimäki, Terho T; Cloninger, C Robert CR
Publication Date: 2020-10

Variant appearance in text: PTPN22: 2282-1183C>T; rs2476599
PubMed Link: 30283034
Variant Present in the following documents:
  • 41380_2018_263_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Uncovering the complex genetics of human temperament.

Molecular Psychiatry
Zwir, Igor I; Arnedo, Javier J; Del-Val, Coral C; Pulkki-Råback, Laura L; Konte, Bettina B; Yang, Sarah S SS; Romero-Zaliz, Rocio R; Hintsanen, Mirka M; Cloninger, Kevin M KM; Garcia, Danilo D; Svrakic, Dragan M DM; Rozsa, Sandor S; Martinez, Maribel M; Lyytikäinen, Leo-Pekka LP; Giegling, Ina I; Kähönen, Mika M; Hernandez-Cuervo, Helena H; Seppälä, Ilkka I; Raitoharju, Emma E; de Erausquin, Gabriel A GA; Raitakari, Olli O; Rujescu, Dan D; Postolache, Teodor T TT; Sung, Joohon J; Keltikangas-Järvinen, Liisa L; Lehtimäki, Terho T; Cloninger, C Robert CR
Publication Date: 2020-10

Variant appearance in text: PTPN22: 2282-1183C>T; rs2476599
PubMed Link: 30279457
Variant Present in the following documents:
  • 41380_2018_264_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



How much of the predisposition to Hashimoto's thyroiditis can be explained based on previously reported associations?

Journal Of Endocrinological Investigation
Jabrocka-Hybel, A A; Skalniak, A A; Piątkowski, J J; Turek-Jabrocka, R R; Vyhouskaya, P P; Ludwig-Słomczyńska, A A; Machlowska, J J; Kapusta, P P; Małecki, M M; Pach, D D; Trofimiuk-Müldner, M M; Lizis-Kolus, K K; Hubalewska-Dydejczyk, A A
Publication Date: 2018-12

Variant appearance in text: rs2476599
PubMed Link: 29931474
Variant Present in the following documents:
  • Main text
  • 40618_2018_Article_910.pdf
View BVdb publication page



Role of PTPN2/22 polymorphisms in pathophysiology of Crohn's disease.

World Journal Of Gastroenterology
Sharp, Robert C RC; Beg, Shazia A SA; Naser, Saleh A SA
Publication Date: 2018-02-14

Variant appearance in text: rs2476599
PubMed Link: 29456405
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in Protein Tyrosine Phosphatase Non-receptor Type 2 and 22 (PTPN2/22) Are Linked to Hyper-Proliferative T-Cells and Susceptibility to Mycobacteria in Rheumatoid Arthritis.

Frontiers In Cellular And Infection Microbiology
Sharp, Robert C RC; Beg, Shazia A SA; Naser, Saleh A SA
Publication Date: 2018

Variant appearance in text: rs2476599
PubMed Link: 29423382
Variant Present in the following documents:
  • Main text
  • fcimb-08-00011.pdf
View BVdb publication page



Effects of GWAS-associated genetic variants on lncRNAs within IBD and T1D candidate loci.

Plos One
Mirza, Aashiq H AH; Kaur, Simranjeet S; Brorsson, Caroline A CA; Pociot, Flemming F
Publication Date: 2014

Variant appearance in text: rs2476599
PubMed Link: 25144376
Variant Present in the following documents:
  • pone.0105723.s013.xlsx, sheet 3
View BVdb publication page



Genetic heterogeneity of susceptibility gene in different ethnic populations: refining association study of PTPN22 for Graves' disease in a Chinese Han population.

Plos One
Xue, Liqiong L; Pan, Chunming C; Gu, Zhaohui Z; Zhao, Shuangxia S; Han, Bing B; Liu, Wei W; Yang, Shaoying S; Yu, Shasha S; Sun, Yixuan Y; Liang, Jun J; Gao, Guanqi G; Zhang, Xiaomei X; Yuan, Guoyue G; Li, Changgui C; Du, Wenhua W; Chen, Gang G; Chen, Jialun J; Song, Huaidong H
Publication Date: 2013

Variant appearance in text: rs2476599
PubMed Link: 24386393
Variant Present in the following documents:
  • Main text
  • pone.0084514.pdf
View BVdb publication page



Genetic factors of autoimmune thyroid diseases in Japanese.

Autoimmune Diseases
Ban, Yoshiyuki Y
Publication Date: 2012

Variant appearance in text: rs2476599
PubMed Link: 22242199
Variant Present in the following documents:
  • Main text
  • AD2012-236981.pdf
View BVdb publication page



Assessment of genotype imputation methods.

Bmc Proceedings
Biernacka, Joanna M JM; Tang, Rui R; Li, Jia J; McDonnell, Shannon K SK; Rabe, Kari G KG; Sinnwell, Jason P JP; Rider, David N DN; de Andrade, Mariza M; Goode, Ellen L EL; Fridley, Brooke L BL
Publication Date: 2009-12-15

Variant appearance in text: rs2476599
PubMed Link: 20018042
Variant Present in the following documents:
  • 1753-6561-3-S7-S5.pdf
View BVdb publication page



PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis.

American Journal Of Human Genetics
Carlton, Victoria E H VE; Hu, Xiaolan X; Chokkalingam, Anand P AP; Schrodi, Steven J SJ; Brandon, Rhonda R; Alexander, Heather C HC; Chang, Monica M; Catanese, Joseph J JJ; Leong, Diane U DU; Ardlie, Kristin G KG; Kastner, Daniel L DL; Seldin, Michael F MF; Criswell, Lindsey A LA; Gregersen, Peter K PK; Beasley, Ellen E; Thomson, Glenys G; Amos, Christopher I CI; Begovich, Ann B AB
Publication Date: 2005-10

Variant appearance in text: rs2476599
PubMed Link: 16175503
Variant Present in the following documents:
  • Main text
View BVdb publication page