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Association of the CTLA-4 +49A/G polymorphism with rheumatoid arthritis in Chinese Han population

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Abstract

Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) is an important molecule in the regulation of T cells, so the CTLA-4 gene has been considered as a strong candidate associated with T cell-mediated autoimmune diseases such as rheumatoid arthritis (RA). CTLA-4 has many variants and polymorphic forms, among which the +49A/G polymorphism, causing a non-synonymous substitution, has been studied most. However, previous studies of the association between the +49A/G polymorphism of the CTLA-4 gene and RA have provided conflicting results. The aim of this study was to determine the potential relationship of the CTLA-4 +49A/G polymorphism and the risk of RA in Chinese Han population. TaqMan assay was used to genotype the +49A/G polymorphism in 1,489 RA patients and 1,200 healthy controls. Furthermore, a meta-analysis of all studies relating this polymorphism in Chinese population to the risk of RA was performed. The genotype and allele frequencies of the CTLA-4 +49A/G in patients with RA differed significantly from those of controls (P = 0.03 and P = 0.007, respectively). The meta-analysis also revealed that the CTLA-4 +49G allele was associated with an increased risk of RA in Chinese population. Our results suggested that the CTLA-4 gene might contribute to the pathogenesis of RA, and the +49A/G polymorphism of this gene was a risk factor associated with increased RA susceptibility in Chinese Han population.

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Authors and Affiliations

  1. Orthopaedics Department, Shanghai Sixth People’s Hospital, Shanghai Jiao Tong University, No.600, Yishan Road, Shanghai, 200233, People’s Republic of China

    Ming-Jie Tang & Zu-Bin Zhou

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  1. Ming-Jie Tang
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  2. Zu-Bin Zhou
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Correspondence to Zu-Bin Zhou.

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Tang, MJ., Zhou, ZB. Association of the CTLA-4 +49A/G polymorphism with rheumatoid arthritis in Chinese Han population. Mol Biol Rep 40, 2627–2631 (2013). https://doi.org/10.1007/s11033-012-2349-6

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  • DOI: https://doi.org/10.1007/s11033-012-2349-6

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