PTPN22 c.146C>G ;(p.A49G)

Variant ID: 1-114402024-G-C

NM_015967.5(PTPN22):c.146C>G;(p.A49G)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Molecular Mechanisms in Autoimmune Thyroid Disease.

Cells
Vargas-Uricoechea, Hernando H
Publication Date: 2023-03-16

Variant appearance in text: PTPN22: A49G
PubMed Link: 36980259
Variant Present in the following documents:
  • Main text
  • cells-12-00918.pdf
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Association between the CTLA4 +49A/G (rs231775) and CT60 (rs3087243) gene variants with vitiligo: study on a Mexican population.

Anais Brasileiros De Dermatologia
Salinas-Santander, Mauricio Andrés MA; Suárez-Valencia, Víctor de Jesús VJ; Ángel-Martínez, Mayela Del MD; Kubelis-Lopez, David Emmanuel DE; Zapata-Salazar, Natalia Aranza NA; Ocampo-Garza, Jorge Alejandro JA; Ocampo-Candiani, Jorge J
Publication Date: 2022

Variant appearance in text: PTPN22: A49G
PubMed Link: 36163113
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Association of Cytotoxic T-Lymphocyte Antigen-4 Gene Polymorphism with Type 1 Diabetes Mellitus: In silico Analysis of Biological Features of CTLA-4 Protein on Ethiopian Population.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy
Ebrahim, Endris E; Teklu, Takele T; Tajebe, Fitsumbrhan F; Wondmagegn, Tadelo T; Akelew, Yibeltal Y; Fiseha, Mesfin M
Publication Date: 2022

Variant appearance in text: PTPN22: A49G
PubMed Link: 36091481
Variant Present in the following documents:
  • dmso-15-2733.pdf
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In Search for the Missing Link in APECED-like Conditions: Analysis of the AIRE Gene in a Series of 48 Patients.

Journal Of Clinical Medicine
Fierabracci, Alessandra A; Belcastro, Eugenia E; Carbone, Elena E; Pagliarosi, Olivia O; Palma, Alessia A; Pacillo, Lucia L; Giancotta, Carmela C; Zangari, Paola P; Finocchi, Andrea A; Cancrini, Caterina C; Delfino, Domenico Vittorio DV; Cappa, Marco M; Betterle, Corrado C
Publication Date: 2022-06-06

Variant appearance in text: Lyp: A49G
PubMed Link: 35683627
Variant Present in the following documents:
  • jcm-11-03242.pdf
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Programmed Cell Death-Ligand 1 (PD-L1) gene Single Nucleotide Polymorphism in Graves' Disease and Hashimoto's Thyroiditis in Korean Patients.

Endocrinology And Metabolism (Seoul, Korea)
Yoon, Jee Hee JH; Shin, Min-Ho MH; Kim, Hee Nam HN; Choi, Wonsuk W; Park, Ji Yong JY; Hong, A Ram AR; Kim, Hee Kyung HK; Kang, Ho-Cheol HC
Publication Date: 2021-06

Variant appearance in text: PTPN22: A49G
PubMed Link: 34074094
Variant Present in the following documents:
  • enm-2021-965.pdf
View BVdb publication page



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: PTPN22: A49G
PubMed Link: 33746952
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Association Study of IL2RA, IFIH1, and CTLA-4 Polymorphisms With Autoimmune Thyroid Diseases and Type 1 Diabetes.

Frontiers In Pediatrics
Borysewicz-Sańczyk, Hanna H; Sawicka, Beata B; Wawrusiewicz-Kurylonek, Natalia N; Głowińska-Olszewska, Barbara B; Kadłubiska, Anna A; Gościk, Joanna J; Szadkowska, Agnieszka A; Łosiewicz, Aleksandra A; Młynarski, Wojciech W; Kretowski, Adam A; Bossowski, Artur A
Publication Date: 2020

Variant appearance in text: PTPN22: A49G
PubMed Link: 32974248
Variant Present in the following documents:
  • fped-08-00481.pdf
View BVdb publication page



Genetic Polymorphisms Associated with Rheumatoid Arthritis Development and Antirheumatic Therapy Response.

International Journal Of Molecular Sciences
Mikhaylenko, Dmitry S DS; Nemtsova, Marina V MV; Bure, Irina V IV; Kuznetsova, Ekaterina B EB; Alekseeva, Ekaterina A EA; Tarasov, Vadim V VV; Lukashev, Alexander N AN; Beloukhova, Marina I MI; Deviatkin, Andrei A AA; Zamyatnin, Andrey A AA
Publication Date: 2020-07-11

Variant appearance in text: PTPN22: A49G
PubMed Link: 32664585
Variant Present in the following documents:
  • ijms-21-04911.pdf
View BVdb publication page



CTLA4 +49AG (rs231775) and CT60 (rs3087243) gene variants are not associated with alopecia areata in a Mexican population from Monterrey Mexico.

Anais Brasileiros De Dermatologia
Salinas-Santander, Mauricio Andrés MA; Cantu-Salinas, Cristina Susana CS; Ocampo-Candiani, Jorge J; Suarez-Valencia, Victor de Jesus VJ; Ramirez-Guerrero, Jennifer Guadalupe JG; Sanchez-Dominguez, Celia Nohemi CN
Publication Date: 2020

Variant appearance in text: PTPN22: A49G
PubMed Link: 32278632
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Latent Autoimmune Diabetes in Adults: Current Status and New Horizons.

Endocrinology And Metabolism (Seoul, Korea)
Pozzilli, Paolo P; Pieralice, Silvia S
Publication Date: 2018-06

Variant appearance in text: PTPN22: Ala49Gly
PubMed Link: 29947172
Variant Present in the following documents:
  • Main text
  • enm-33-147.pdf
View BVdb publication page



rs2841277 (PLD4) is associated with susceptibility and rs4672495 is associated with disease activity in rheumatoid arthritis.

Oncotarget
Chen, Wei-Chiao WC; Wang, Wen-Chang WC; Okada, Yukinori Y; Chang, Wei-Pin WP; Chou, Yii-Her YH; Chang, Hui-Hua HH; Huang, Jin-Ding JD; Chen, Der-Yuan DY; Chang, Wei-Chiao WC
Publication Date: 2017-09-08

Variant appearance in text: PTPN22: A49G
PubMed Link: 28969061
Variant Present in the following documents:
  • Main text
  • oncotarget-08-64180.pdf
View BVdb publication page



rs657075 (CSF2) Is Associated with the Disease Phenotype (BAS-G) of Ankylosing Spondylitis.

International Journal Of Molecular Sciences
Chen, Wei-Chiao WC; Wei, James Cheng-Chung JC; Lu, Hsing-Fang HF; Wong, Henry Sung-Ching HS; Woon, Peng Yeong PY; Hsu, Yu-Wen YW; Huang, Jin-Ding JD; Chang, Wei-Chiao WC
Publication Date: 2017-01-03

Variant appearance in text: PTPN22: A49G
PubMed Link: 28054948
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pooled genome wide association detects association upstream of FCRL3 with Graves' disease.

Bmc Genomics
Khong, Jwu Jin JJ; Burdon, Kathryn P KP; Lu, Yi Y; Laurie, Kate K; Leonardos, Lefta L; Baird, Paul N PN; Sahebjada, Srujana S; Walsh, John P JP; Gajdatsy, Adam A; Ebeling, Peter R PR; Hamblin, Peter Shane PS; Wong, Rosemary R; Forehan, Simon P SP; Fourlanos, Spiros S; Roberts, Anthony P AP; Doogue, Matthew M; Selva, Dinesh D; Montgomery, Grant W GW; Macgregor, Stuart S; Craig, Jamie E JE
Publication Date: 2016-11-18

Variant appearance in text: PTPN22: A49G
PubMed Link: 27863461
Variant Present in the following documents:
  • Main text
  • 12864_2016_Article_3276.pdf
View BVdb publication page



Recent Advances in Autoimmune Thyroid Diseases.

Endocrinology And Metabolism (Seoul, Korea)
Yoo, Won Sang WS; Chung, Hyun Kyung HK
Publication Date: 2016-09

Variant appearance in text: PTPN22: A49G
PubMed Link: 27586448
Variant Present in the following documents:
  • Main text
  • enm-31-379.pdf
View BVdb publication page



Cytotoxic T lymphocyte-associated antigen 4 gene polymorphisms and autoimmune thyroid diseases: an updated systematic review and cumulative meta-analysis.

International Journal Of Endocrinology
Hou, Hai-Feng HF; Jin, Xu X; Sun, Tao T; Li, Cheng C; Jiang, Bao-Fa BF; Li, Qun-Wei QW
Publication Date: 2015

Variant appearance in text: PTPN22: A49G
PubMed Link: 25878663
Variant Present in the following documents:
  • IJE2015-747816.pdf
View BVdb publication page



Common variants on cytotoxic T lymphocyte antigen-4 polymorphisms contributes to type 1 diabetes susceptibility: evidence based on 58 studies.

Plos One
Wang, Jingnan J; Liu, Lianyong L; Ma, Junhua J; Sun, Fei F; Zhao, Zefei Z; Gu, Mingjun M
Publication Date: 2014

Variant appearance in text: PTPN22: A49G
PubMed Link: 24465825
Variant Present in the following documents:
  • pone.0085982.pdf
View BVdb publication page



Association between age at diagnosis of Graves' disease and variants in genes involved in immune response.

Plos One
Jurecka-Lubieniecka, Beata B; Ploski, Rafal R; Kula, Dorota D; Krol, Aleksandra A; Bednarczuk, Tomasz T; Kolosza, Zofia Z; Tukiendorf, Andrzej A; Szpak-Ulczok, Sylwia S; Stanjek-Cichoracka, Anita A; Polanska, Joanna J; Jarzab, Barbara B
Publication Date: 2013

Variant appearance in text: PTPN22: A49G
PubMed Link: 23544060
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between genetic mutations and the development of autoimmune thyroiditis in patients with chronic hepatitis C treated with interferon alpha.

Thyroid Research
Krupińska, Janina J; Urbanowicz, Waldemar W; Kaczmarczyk, Mariusz M; Kulig, Grzegorz G; Sowińska-Przepiera, Elżbieta E; Andrysiak-Mamos, Elżbieta E; Syrenicz, Anhelli A
Publication Date: 2012-10-16

Variant appearance in text: PTPN22: A49G
PubMed Link: 23072316
Variant Present in the following documents:
  • Main text
  • 1756-6614-5-10.pdf
View BVdb publication page



CTLA-4 gene polymorphisms and their influence on predisposition to autoimmune thyroid diseases (Graves' disease and Hashimoto's thyroiditis).

Archives Of Medical Science : Ams
Pastuszak-Lewandoska, Dorota D; Sewerynek, Ewa E; Domańska, Daria D; Gładyś, Aleksandra A; Skrzypczak, Renata R; Brzeziańska, Ewa E
Publication Date: 2012-07-04

Variant appearance in text: PTPN22: A49G
PubMed Link: 22851994
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic profiling in Graves' disease: further evidence for lack of a distinct genetic contribution to Graves' ophthalmopathy.

Thyroid : Official Journal Of The American Thyroid Association
Yin, Xiaoming X; Latif, Rauf R; Bahn, Rebecca R; Davies, Terry F TF
Publication Date: 2012-07

Variant appearance in text: PTPN22: A49G
PubMed Link: 22663548
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic basis of graves' disease.

Current Genomics
Płoski, Rafał R; Szymański, Konrad K; Bednarczuk, Tomasz T
Publication Date: 2011-12

Variant appearance in text: PTPN22: A49G
PubMed Link: 22654555
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of cytotoxic T lymphocyte-associated antigen 4 gene single nucleotide polymorphism with type 1 diabetes mellitus in Madurai population of Southern India.

Indian Journal Of Human Genetics
Philip, Beatrice B; Isabel, W W
Publication Date: 2011-05

Variant appearance in text: Lyp: A49G
PubMed Link: 22090719
Variant Present in the following documents:
  • IJHG-17-85.pdf
View BVdb publication page



Association of the CTLA4 gene with Graves' disease in the Chinese Han population.

Plos One
Zhao, Shuang-Xia SX; Pan, Chun-Ming CM; Cao, Huang-Ming HM; Han, Bing B; Shi, Jing-Yi JY; Liang, Jun J; Gao, Guan-Qi GQ; Peng, Yong-De YD; Su, Qing Q; Chen, Jia-Lun JL; Zhao, Jia-Jun JJ; Song, Huai-Dong HD
Publication Date: 2010-03-23

Variant appearance in text: PTPN22: A49G
PubMed Link: 20352109
Variant Present in the following documents:
  • Main text
  • pone.0009821.pdf
View BVdb publication page



Recent insights into the pathogenesis and management of thyroid-associated ophthalmopathy.

Current Opinion In Endocrinology, Diabetes, And Obesity
Gianoukakis, Andrew G AG; Smith, Terry J TJ
Publication Date: 2008-10

Variant appearance in text: PTPN22: A49G
PubMed Link: 18769218
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lack of association of functional CTLA4 polymorphisms with juvenile idiopathic arthritis.

Arthritis And Rheumatism
Prahalad, Sampath S; Bohnsack, John F JF; Whiting, April A; Clifford, Bronte B; Jorde, Lynn B LB; Guthery, Stephen L SL; Thompson, Susan D SD; Glass, David N DN; Bamshad, Michael J MJ
Publication Date: 2008-07

Variant appearance in text: PTPN22: A49G
PubMed Link: 18576317
Variant Present in the following documents:
  • Main text
View BVdb publication page



A multilocus model of the genetic architecture of autoimmune thyroid disorder, with clinical implications.

American Journal Of Human Genetics
Vieland, Veronica J VJ; Huang, Yungui Y; Bartlett, Christopher C; Davies, Terry F TF; Tomer, Yaron Y
Publication Date: 2008-06

Variant appearance in text: PTPN22: A49G
PubMed Link: 18485327
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genes mediating environment interactions in type 1 diabetes.

The Review Of Diabetic Studies : Rds
Biros, Erik E; Jordan, Margaret A MA; Baxter, Alan G AG
Publication Date: 2005

Variant appearance in text: PTPN22: A49G
PubMed Link: 17491695
Variant Present in the following documents:
  • Main text
View BVdb publication page