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Polymorphisms of tumor necrosis factor-α promoter region for susceptibility to HLA-B27-positive ankylosing spondylitis in Korean population

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Abstract

This study designed to assess the relationship between tumor necrosis factor (TNF)-α promoter polymorphisms and disease susceptibility to human leukocyte antigen (HLA)-B27-positive ankylosing spondylitis (AS). One hundred and nineteen HLA-B27+ AS patients, 95 HLA-B27+ healthy controls, and 135 random healthy controls were enrolled in this study. Six single nucleotide polymorphisms (SNPs) of the TNF-α promoter at positions –1031T/C, –863C/A, –857C/T, –646G/A, –308G/A, and –238G/A were analyzed. Differences between groups were evaluated using the chi-square test or Fisher’s exact test. Haplotypes from each SNP were constructed, and differences in haplotypic frequencies between groups were evaluated. There were significant differences in the allelic and genotypic frequencies of 1031T/C, –863C/A, and –857C/T TNF-α promoters polymorphisms between HLA-B27+ AS patients and random controls, but not between patients with AS and HLA-B27+ healthy individuals. TNF-α polymorphisms did not influence the extra-spinal clinical features in patients with AS. The haplotypic sequence –1031T/–863C/–857C/–308G increased the risk of susceptibility to AS compared to random controls (P corr < 0.001, OR = 2.756, 95% CI = 1.894–4.010), whereas the sequence –1031C/–863A/–857C/–308G appeared to be associated with decreased susceptibility to AS compared to random controls (P corr = 0.006, OR = 0.396, 95% CI = 0.231–0.679). This study indicates that TNF-α promoter polymorphism between controls and AS patients with HLA-B27+ genetic background is not associated with susceptibility to AS. However, TNF-α polymorphism, irrespective of HLA-B27, increases risk of susceptibility to AS in general population.

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Authors and Affiliations

  1. Department of Internal Medicine, Dong-A University College of Medicine, Busan, South Korea

    Won-Tae Chung & Sung-Won Lee

  2. Department of Internal Medicine, Catholic University of Daegu School of Medicine, 3056-6 Daemyung 4-Dong, Namgu, Daegu, 705-718, South Korea

    Jung-Yoon Choe, Sung-Hoon Park & Seong-Kyu Kim

  3. Arthritis and Autoimmunity Research Center, Catholic University of Daegu, Daegu, South Korea

    Jung-Yoon Choe, Sung-Hoon Park & Seong-Kyu Kim

  4. Department of Chemistry, School of Advanced Science, Dankook University, Cheonan, South Korea

    Won Cheoul Jang, Su Min Park, Young Chang Ahn & Il Kyu Yoon

  5. Division of Rheumatology, Hospital for Rheumatic Diseases, Hanyang University, Seoul, South Korea

    Tae-Hwan Kim

  6. Pharmacy and Pharmaceutical Sciences, University of Alberta, Edmonton, AB, Canada

    Youn-Hyoung Nam

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  1. Won-Tae Chung
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  2. Jung-Yoon Choe
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  3. Won Cheoul Jang
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  4. Su Min Park
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  9. Sung-Hoon Park
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Correspondence to Seong-Kyu Kim.

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Won-Tae Chung and Jung-Yoon Choe are contributed equally to this article.

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Chung, WT., Choe, JY., Jang, W.C. et al. Polymorphisms of tumor necrosis factor-α promoter region for susceptibility to HLA-B27-positive ankylosing spondylitis in Korean population. Rheumatol Int 31, 1167–1175 (2011). https://doi.org/10.1007/s00296-010-1434-1

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  • DOI: https://doi.org/10.1007/s00296-010-1434-1

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