PTPN22 c.*864T>C

Variant ID: 1-114356663-A-G

NM_015967.5(PTPN22):c.*864T>C

This variant was identified in 24 publications

View GRCh38 version.




Publications:


Genetic association between the PTPN22, IRF5 and TYK2 gene variants and susceptibility to juvenile idiopathic arthritis.

Experimental And Therapeutic Medicine
Qian, Yufeng Y; Chen, Bingqian B; Wang, Zhengfei Z; Peng, Yuqin Y
Publication Date: 2022-12

Variant appearance in text: rs3811021
PubMed Link: 36605568
Variant Present in the following documents:
  • Main text
  • etm-24-06-11692.pdf
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Genetic Polymorphism of PTPN22 in Autoimmune Diseases: A Comprehensive Review.

Medicina (Kaunas, Lithuania)
Tizaoui, Kalthoum K; Shin, Jae Il JI; Jeong, Gwang Hun GH; Yang, Jae Won JW; Park, Seoyeon S; Kim, Ji Hong JH; Hwang, Soo Young SY; Park, Se Jin SJ; Koyanagi, Ai A; Smith, Lee L
Publication Date: 2022-08-02

Variant appearance in text: rs3811021
PubMed Link: 36013501
Variant Present in the following documents:
  • Main text
  • medicina-58-01034.pdf
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Characterization of Rheumatoid Arthritis Risk-Associated SNPs and Identification of Novel Therapeutic Sites Using an In-Silico Approach.

Biology
Akhtar, Mehran M; Ali, Yasir Y; Islam, Zia-Ul ZU; Arshad, Maria M; Rauf, Mamoona M; Ali, Muhammad M; Maodaa, Saleh N SN; Al-Farraj, Saleh A SA; El-Serehy, Hamed A HA; Jalil, Fazal F
Publication Date: 2021-06-04

Variant appearance in text: rs3811021
PubMed Link: 34199962
Variant Present in the following documents:
  • Main text
  • biology-10-00501.pdf
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Genetic Susceptibility to Joint Occurrence of Polycystic Ovary Syndrome and Hashimoto's Thyroiditis: How Far Is Our Understanding?

Frontiers In Immunology
Zeber-Lubecka, Natalia N; Hennig, Ewa E EE
Publication Date: 2021

Variant appearance in text: rs3811021
PubMed Link: 33746952
Variant Present in the following documents:
  • Main text
  • fimmu-12-606620.pdf
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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: rs3811021
PubMed Link: 32398702
Variant Present in the following documents:
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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: rs3811021
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
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Transethnic associations among immune-mediated diseases and single-nucleotide polymorphisms of the aryl hydrocarbon response gene ARNT and the PTPN22 immune regulatory gene.

Journal Of Autoimmunity
Schurman, Shepherd H SH; O'Hanlon, Terrance P TP; McGrath, John A JA; Gruzdev, Artiom A; Bektas, Arsun A; Xu, Hong H; Garantziotis, Stavros S; Zeldin, Darryl C DC; Miller, Frederick W FW
Publication Date: 2020-02

Variant appearance in text: rs3811021
PubMed Link: 31759816
Variant Present in the following documents:
  • Main text
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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: rs3811021
PubMed Link: 29931474
Variant Present in the following documents:
  • Main text
  • 40618_2018_Article_910.pdf
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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: rs3811021
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: rs3811021
PubMed Link: 24816862
Variant Present in the following documents:
  • Main text
  • pone.0096943.pdf
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Molecular genetic mechanisms of chronic urticaria.

Allergy, Asthma & Immunology Research
Losol, Purevsuren P; Yoo, Hye-Soo HS; Park, Hae-Sim HS
Publication Date: 2014-01

Variant appearance in text: rs3811021
PubMed Link: 24404388
Variant Present in the following documents:
  • aair-6-13.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: rs3811021
PubMed Link: 24386393
Variant Present in the following documents:
  • Main text
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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: rs3811021
PubMed Link: 23251581
Variant Present in the following documents:
  • Main text
  • pone.0051571.pdf
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The PTPN22 locus and rheumatoid arthritis: no evidence for an effect on risk independent of Arg620Trp.

Plos One
Wan Taib, Wan R WR; Smyth, Deborah J DJ; Merriman, Marilyn E ME; Dalbeth, Nicola N; Gow, Peter J PJ; Harrison, Andrew A AA; Highton, John J; Jones, Peter B B PB; Stamp, Lisa L; Steer, Sophia S; Todd, John A JA; Merriman, Tony R TR
Publication Date: 2010-10-21

Variant appearance in text: rs3811021
PubMed Link: 20975833
Variant Present in the following documents:
  • Main text
  • pone.0013544.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: rs3811021
PubMed Link: 19503742
Variant Present in the following documents:
  • Main text
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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: rs3811021
PubMed Link: 19180477
Variant Present in the following documents:
  • Main text
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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: rs3811021
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: rs3811021
PubMed Link: 18466531
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: rs3811021
PubMed Link: 18341666
Variant Present in the following documents:
  • Main text
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PTPN22: its role in SLE and autoimmunity.

Autoimmunity
Chung, Sharon A SA; Criswell, Lindsey A LA
Publication Date: 2007-12

Variant appearance in text: rs3811021
PubMed Link: 18075792
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: rs3811021
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: rs3811021
PubMed Link: 17170052
Variant Present in the following documents:
  • Main text
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Genotyping pooled DNA using 100K SNP microarrays: a step towards genomewide association scans.

Nucleic Acids Research
Meaburn, Emma E; Butcher, Lee M LM; Schalkwyk, Leonard C LC; Plomin, Robert R
Publication Date: 2006-02-14

Variant appearance in text: rs3811021
PubMed Link: 16478714
Variant Present in the following documents:
  • Main text
  • gnj027.pdf
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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: rs3811021
PubMed Link: 16175503
Variant Present in the following documents:
  • Main text
View BVdb publication page