PTPN22 c.2282-2200C>T

Variant ID: 1-114364476-G-A

NM_015967.5(PTPN22):c.2282-2200C>T

This variant was identified in 15 publications

View GRCh38 version.




Publications:


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: rs1217388
PubMed Link: 36013501
Variant Present in the following documents:
  • Main text
  • medicina-58-01034.pdf
View BVdb publication page



Impact of genetic and environmental factors on autoimmune hepatitis.

Journal Of Translational Autoimmunity
Zachou, Kalliopi K; Arvaniti, Pinelopi P; Lyberopoulou, Aggeliki A; Dalekos, George N GN
Publication Date: 2021

Variant appearance in text: rs1217388
PubMed Link: 34622188
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetic risk factors for autoimmune hepatitis: implications for phenotypic heterogeneity and biomarkers for drug response.

Human Genomics
Higuchi, Takashi T; Oka, Shomi S; Furukawa, Hiroshi H; Tohma, Shigeto S; Yatsuhashi, Hiroshi H; Migita, Kiyoshi K
Publication Date: 2021-01-28

Variant appearance in text: rs1217388
PubMed Link: 33509297
Variant Present in the following documents:
  • Main text
  • 40246_2020_Article_301.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: rs1217388
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



The Autoimmune-Associated Single Nucleotide Polymorphism Within PTPN22 Correlates With Clinical Outcome After Lung Transplantation.

Frontiers In Immunology
Budding, Kevin K; van Setten, Jessica J; van de Graaf, Eduard A EA; van Rossum, Oliver A OA; Kardol-Hoefnagel, Tineke T; Kwakkel-van Erp, Johanna M JM; Oudijk, Erik-Jan D ED; Hack, C Erik CE; Otten, Henderikus G HG
Publication Date: 2018

Variant appearance in text: rs1217388
PubMed Link: 30705675
Variant Present in the following documents:
  • Main text
  • fimmu-09-03105.pdf
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Genetic Association of PTPN22 Polymorphisms with Autoimmune Hepatitis and Primary Biliary Cholangitis in Japan.

Scientific Reports
Umemura, Takeji T; Joshita, Satoru S; Yamazaki, Tomoo T; Komatsu, Michiharu M; Katsuyama, Yoshihiko Y; Yoshizawa, Kaname K; Tanaka, Eiji E; Ota, Masao M
Publication Date: 2016-07-11

Variant appearance in text: rs1217388
PubMed Link: 27406031
Variant Present in the following documents:
  • Main text
  • srep29770.pdf
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: rs1217388
PubMed Link: 24386393
Variant Present in the following documents:
  • Main text
  • pone.0084514.pdf
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: rs1217388
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: rs1217388
PubMed Link: 18466531
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1217388
PubMed Link: 18466529
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1217388
PubMed Link: 18466461
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs1217388
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: rs1217388
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: rs1217388
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: rs1217388
PubMed Link: 16175503
Variant Present in the following documents:
  • Main text
View BVdb publication page