PTPN22 c.2360-159C>T

Variant ID: 1-114357750-G-A

NM_015967.5(PTPN22):c.2360-159C>T

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs1217413
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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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: rs1217413
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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Association analysis in a Latin American population revealed ethnic differences in rheumatoid arthritis-associated SNPs in Caucasian and Asian populations.

Scientific Reports
Castro-Santos, P P; Verdugo, R A RA; Alonso-Arias, R R; Gutiérrez, M A MA; Suazo, J J; Aguillón, J C JC; Olloquequi, J J; Pinochet, C C; Lucia, A A; Quiñones, L A LA; Díaz-Peña, R R
Publication Date: 2020-05-12

Variant appearance in text: rs1217413
PubMed Link: 32398702
Variant Present in the following documents:
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: PTPN22: 2360-159C>T; rs1217413
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Influence of molecular genetics in Vogt-Koyanagi-Harada disease.

Journal Of Ophthalmic Inflammation And Infection
Ng, Joanne Yw JY; Luk, Fiona Oj FO; Lai, Timothy Yy TY; Pang, Chi-Pui CP
Publication Date: 2014

Variant appearance in text: rs1217413
PubMed Link: 25097674
Variant Present in the following documents:
  • Main text
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A functional variant of PTPN22 confers risk for Vogt-Koyanagi-Harada syndrome but not for ankylosing spondylitis.

Plos One
Zhang, Qi Q; Qi, Jian J; Hou, Shengping S; Du, Liping L; Yu, Hongsong H; Cao, Qingfeng Q; Zhou, Yan Y; Liao, Dan D; Kijlstra, Aize A; Yang, Peizeng P
Publication Date: 2014

Variant appearance in text: rs1217413
PubMed Link: 24816862
Variant Present in the following documents:
  • Main text
  • pone.0096943.pdf
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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: rs1217413
PubMed Link: 24386393
Variant Present in the following documents:
  • Main text
  • pone.0084514.pdf
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Meta-analysis of 125 rheumatoid arthritis-related single nucleotide polymorphisms studied in the past two decades.

Plos One
Jiang, Yongshuai Y; Zhang, Ruijie R; Zheng, Jiajia J; Liu, Panpan P; Tang, Guoping G; Lv, Hongchao H; Zhang, Lanying L; Shang, Zhenwei Z; Zhan, Yuanbo Y; Lv, Wenhua W; Shi, Miao M; Zhang, Ruimin R
Publication Date: 2012

Variant appearance in text: rs1217413
PubMed Link: 23251581
Variant Present in the following documents:
  • Main text
  • pone.0051571.pdf
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Evaluation of PTPN22 polymorphisms and Vogt-Koyanagi-Harada disease in Japanese patients.

Molecular Vision
Horie, Yukihiro Y; Kitaichi, Nobuyoshi N; Katsuyama, Yoshihiko Y; Yoshida, Kazuhiko K; Miura, Toshie T; Ota, Masao M; Asukata, Yuri Y; Inoko, Hidetoshi H; Mizuki, Nobuhisa N; Ishida, Susumu S; Ohno, Shigeaki S
Publication Date: 2009-06-03

Variant appearance in text: rs1217413
PubMed Link: 19503742
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations.

Arthritis And Rheumatism
Lee, Hye-Soon HS; Korman, Benjamin D BD; Le, Julie M JM; Kastner, Daniel L DL; Remmers, Elaine F EF; Gregersen, Peter K PK; Bae, Sang-Cheol SC
Publication Date: 2009-02

Variant appearance in text: rs1217413
PubMed Link: 19180477
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparison of the power of haplotype-based versus single- and multilocus association methods for gene x environment (gene x sex) interactions and application to gene x smoking and gene x sex interactions in rheumatoid arthritis.

Bmc Proceedings
Dempfle, Astrid A; Hein, Rebecca R; Beckmann, Lars L; Scherag, André A; Nguyen, Thuy Trang TT; Schäfer, Helmut H; Chang-Claude, Jenny J
Publication Date: 2007

Variant appearance in text: rs1217413
PubMed Link: 18466575
Variant Present in the following documents:
  • Main text
View BVdb publication page



Case-control association analysis of rheumatoid arthritis with candidate genes using related cases.

Bmc Proceedings
Yoo, Yun Joo YJ; Gao, Guimin G; Zhang, Kui K
Publication Date: 2007

Variant appearance in text: rs1217413
PubMed Link: 18466531
Variant Present in the following documents:
  • Main text
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Comparing strategies for evaluation of candidate genes in case-control studies using family data.

Bmc Proceedings
Tian, Xin X; Joo, Jungnam J; Wu, Colin O CO; Lin, Jing-Ping JP
Publication Date: 2007

Variant appearance in text: rs1217413
PubMed Link: 18466529
Variant Present in the following documents:
  • Main text
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Meta-genetic association of rheumatoid arthritis and PTPN22 using PedGenie 2.1.

Bmc Proceedings
Curtin, Karen K; Wong, Jathine J; Allen-Brady, Kristina K; Camp, Nicola J NJ
Publication Date: 2007

Variant appearance in text: rs1217413
PubMed Link: 18466461
Variant Present in the following documents:
  • Main text
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Polymorphisms in the PTPN22 region are associated with psoriasis of early onset.

The British Journal Of Dermatology
Smith, Rh Ll RL; Warren, R B RB; Eyre, S S; Ke, X X; Young, H S HS; Allen, M M; Strachan, D D; McArdle, W W; Gittins, M P MP; Barker, J N W N JN; Griffiths, C E M CE; Worthington, J J
Publication Date: 2008-05

Variant appearance in text: rs1217413
PubMed Link: 18341666
Variant Present in the following documents:
  • Main text
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The PTPN22*C1858T functional polymorphism is associated with susceptibility to inflammatory polyarthritis but neither this nor other variants spanning the gene is associated with disease outcome.

Annals Of The Rheumatic Diseases
Naseem, H H; Thomson, W W; Silman, A A; Worthington, J J; Symmons, D D; Barton, A A
Publication Date: 2008-02

Variant appearance in text: rs1217413
PubMed Link: 17666450
Variant Present in the following documents:
  • Main text
  • ard-67-02-0251.pdf
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Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK.

Annals Of The Rheumatic Diseases
Hinks, Anne A; Eyre, Steve S; Barton, Anne A; Thomson, Wendy W; Worthington, Jane J
Publication Date: 2007-05

Variant appearance in text: rs1217413
PubMed Link: 17170052
Variant Present in the following documents:
  • Main text
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: rs1217413
PubMed Link: 16175503
Variant Present in the following documents:
  • Main text
View BVdb publication page