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Associations of the PTPN22 and CTLA-4 genetic polymorphisms with Taiwanese ankylosing spondylitis.
Rheumatol Int. 2014 May; 34(5):683-91.RI

Abstract

Ankylosing spondylitis (AS) is an autoimmune disease, and the imbalance of peripheral tolerance is involved in its pathogenesis. Importantly, the negative signal of activated T cells plays a crucial role in the balance of peripheral tolerance. It has been postulated that human protein tyrosine phosphatase nonreceptor 22 (PTPN22) and cytotoxic T-lymphocyte antigen-4 (CTLA-4) genes encode proteins that are actively involved in regulating T-cell activation. Therefore, we evaluated the effects of PTPN22 and CTLA-4 genotypes on the occurrence of AS. Genetic polymorphisms of PTPN22 -1123G/C and CTLA-4 +49A/G were identified by polymerase chain reaction for 391 AS patients and 391 healthy controls. Subjects with PTPN22 CC and GC genotypes had a greater risk of AS occurrence than those with PTPN22 GG genotype [relative risk = 1.39, 95 % confidence interval (95 % CI) 1.03-1.88]. Further, subjects with PTPN22 CC/CTLA-4 AA or PTPN22 GC/CTLA-4 AA genotypes had 1.90-fold (95 % CI 1.02-3.49) greater risk of AS development than those with other combinations of PTPN22 and CTLA-4 genotypes. Our findings indicated that PTPN22 -1123G/C and CTLA-4 +49A/G genetic polymorphisms have a combined effect on the development of AS.

Authors+Show Affiliations

Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24212676

Citation

Huang, Chun-Huang, et al. "Associations of the PTPN22 and CTLA-4 Genetic Polymorphisms With Taiwanese Ankylosing Spondylitis." Rheumatology International, vol. 34, no. 5, 2014, pp. 683-91.
Huang CH, Wei JC, Chen CC, et al. Associations of the PTPN22 and CTLA-4 genetic polymorphisms with Taiwanese ankylosing spondylitis. Rheumatol Int. 2014;34(5):683-91.
Huang, C. H., Wei, J. C., Chen, C. C., Chuang, C. S., Chou, C. H., Lin, Y. J., Wang, M. F., & Wong, R. H. (2014). Associations of the PTPN22 and CTLA-4 genetic polymorphisms with Taiwanese ankylosing spondylitis. Rheumatology International, 34(5), 683-91. https://doi.org/10.1007/s00296-013-2894-x
Huang CH, et al. Associations of the PTPN22 and CTLA-4 Genetic Polymorphisms With Taiwanese Ankylosing Spondylitis. Rheumatol Int. 2014;34(5):683-91. PubMed PMID: 24212676.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Associations of the PTPN22 and CTLA-4 genetic polymorphisms with Taiwanese ankylosing spondylitis. AU - Huang,Chun-Huang, AU - Wei,James Cheng-Chung, AU - Chen,Chun-Chieh, AU - Chuang,Chih-Shien, AU - Chou,Chia-Hsuan, AU - Lin,Yu-Jie, AU - Wang,Ming-Fuu, AU - Wong,Ruey-Hong, Y1 - 2013/11/09/ PY - 2013/06/19/received PY - 2013/10/30/accepted PY - 2013/11/12/entrez PY - 2013/11/12/pubmed PY - 2014/12/15/medline SP - 683 EP - 91 JF - Rheumatology international JO - Rheumatol. Int. VL - 34 IS - 5 N2 - Ankylosing spondylitis (AS) is an autoimmune disease, and the imbalance of peripheral tolerance is involved in its pathogenesis. Importantly, the negative signal of activated T cells plays a crucial role in the balance of peripheral tolerance. It has been postulated that human protein tyrosine phosphatase nonreceptor 22 (PTPN22) and cytotoxic T-lymphocyte antigen-4 (CTLA-4) genes encode proteins that are actively involved in regulating T-cell activation. Therefore, we evaluated the effects of PTPN22 and CTLA-4 genotypes on the occurrence of AS. Genetic polymorphisms of PTPN22 -1123G/C and CTLA-4 +49A/G were identified by polymerase chain reaction for 391 AS patients and 391 healthy controls. Subjects with PTPN22 CC and GC genotypes had a greater risk of AS occurrence than those with PTPN22 GG genotype [relative risk = 1.39, 95 % confidence interval (95 % CI) 1.03-1.88]. Further, subjects with PTPN22 CC/CTLA-4 AA or PTPN22 GC/CTLA-4 AA genotypes had 1.90-fold (95 % CI 1.02-3.49) greater risk of AS development than those with other combinations of PTPN22 and CTLA-4 genotypes. Our findings indicated that PTPN22 -1123G/C and CTLA-4 +49A/G genetic polymorphisms have a combined effect on the development of AS. SN - 1437-160X UR - https://www.unboundmedicine.com/medline/citation/24212676/Associations_of_the_PTPN22_and_CTLA_4_genetic_polymorphisms_with_Taiwanese_ankylosing_spondylitis_ L2 - https://dx.doi.org/10.1007/s00296-013-2894-x DB - PRIME DP - Unbound Medicine ER -