Associations of the PTPN22 and CTLA-4 genetic polymorphisms with Taiwanese ankylosing spondylitis

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 phosp...

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Bibliographic Details
Published in:Rheumatology international 2014-05, Vol.34 (5), p.683-691
Main Authors: Huang, Chun-Huang, Wei, James Cheng-Chung, Chen, Chun-Chieh, Chuang, Chih-Shien, Chou, Chia-Hsuan, Lin, Yu-Jie, Wang, Ming-Fuu, Wong, Ruey-Hong
Format: Article
Language:English
Subjects:
Adult
Asian Continental Ancestry Group - genetics
Case-Control Studies
CTLA-4 Antigen - genetics
Female
Gene Frequency
Genetic Predisposition to Disease
Humans
Male
Medicine
Medicine & Public Health
Original Article
Phenotype
Polymorphism, Genetic
Protein Tyrosine Phosphatase, Non-Receptor Type 22 - genetics
Rheumatology
Risk Factors
Spondylitis, Ankylosing - ethnology
Spondylitis, Ankylosing - genetics
Spondylitis, Ankylosing - immunology
Taiwan - epidemiology
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Summary: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.
ISSN:0172-8172
1437-160X
DOI:10.1007/s00296-013-2894-x