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A novel gene variation of TNF-alpha associated with ankylosing spondylitis: a reconfirmed study
  1. Xiaoquan Zhu
  1. Chinese Academy of Medical Sciences and Peking Union Medical College, China
    1. Yawen Wang
    1. Affiliated Hospital, Beihua University School of Medicine; The Key, China
      1. Liang Sun
      1. Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, China
        1. Yuguo Song
        1. Affiliated Hospital, Beihua University School of Medicine, China
          1. Fei Sun
          1. National Institute of Geriatrics, Beijing Hospital, Ministry of Health, China
            1. Lei Tang
            1. National Institute of Geriatrics, Beijing Hospital, Ministry of Health, China
              1. Zhenghao Huo
              1. The Basal Medical School, Ningxia Medical College, Ningxia, China
                1. Jianxin Li
                1. The Key Laboratory of Reproductive Healthy, Liaoning, China
                  1. Ze Yang (yangze016{at}yahoo.com.cn)
                  1. National Institute of Geriatrics, Beijing Hospital, Ministry of Health, China

                    Abstract

                    Background: Large evidences demonstrated that non-HLA-B27 genes may play crucial roles in etiology of Ankylosing Spondylitis (AS), but it was nearly little related to TNF-α gene variation. One functional single nucleotide polymorphism (SNP), -850 C→T on the TNF-α gene promoter region has been identified and confirmed as significant associated with AS by our studies recently.

                    Objective: To reconfirm and determine our hypothesis whether -850 C→T SNP is a susceptible locus to AS or is only a marker linked to potential disease gene loci in Chinese population.

                    Methods: Ten common SNPs were selected from nine inflammatory genes covering the right and left flanks of TNF-α gene, which span about 100kb region on chromosome 6p21.31, and a tag SNP in HCP5 gene was used to examine the linkage between HLA-B27 and TNF-α. SNPs were genotyped by PCR-RFLP, AS-PCR and RG-PCR-RFLP for single-based association and linkage disequilibrium (LD) test.

                    Results: The prevalence of TNF-α-850 CNT SNP was significantly different between case-control groups. A specific haplotype covering TNF-αgene mutant was strongly associated with AS. LD test showed that the recombination between HLA-B27 and TNF-α might be taken place.

                    Conclusion: The TNF-α locus was reconfirmed and showed association with susceptibility to AS and could be independent of HLA-B27. A range of 58kb covering TNF-α was strong LD to AS.

                    • -850
                    • TNF-alpha
                    • ankylosing spondylitis
                    • association

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