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A novel susceptibility locus for Takayasu arteritis in the IL12B region can be a genetic marker of disease severity

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Abstract

Takayasu arteritis (TAK) is an acute and chronic vasculitis of unknown etiology. Recently, our group reported that SNP rs6871626 in the IL12B region had significant association with disease susceptibility to TAK. However, association of the SNP with clinical characteristics of TAK has yet to be determined. Therefore, we assessed whether this SNP was associated with TAK disease severity as represented by early onset and/or refractoriness to medical therapy. A total of 90 patients were genotyped for rs6871626 and their clinical charts were reviewed retrospectively. By examining the relationship between genotype and clinical profiles of patients, we found a strong association between the number of risk alleles and the frequency of severe cases as defined by (1) age at onset <20 years old, (2) steroid resistance, and/or (3) a relapse of disease [p = 0.03; odds ratio 3.75 (95 % confidence interval 1.13–13.5)]. Thus, our study points to potential diagnostic use of SNP rs6871626 for predicting disease severity of TAK, with the goal of genotyping-oriented therapy in the near future.

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Authors and Affiliations

  1. Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan

    Takayoshi Matsumura, Eisuke Amiya & Issei Komuro

  2. Department of Cardiovascular Medicine, Tokyo Medical and Dental University, Tokyo, Japan

    Natsuko Tamura, Yasuhiro Maejima & Mitsuaki Isobe

Authors
  1. Takayoshi Matsumura
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  2. Eisuke Amiya
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  3. Natsuko Tamura
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  4. Yasuhiro Maejima
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  5. Issei Komuro
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  6. Mitsuaki Isobe
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Correspondence to Takayoshi Matsumura.

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Matsumura, T., Amiya, E., Tamura, N. et al. A novel susceptibility locus for Takayasu arteritis in the IL12B region can be a genetic marker of disease severity. Heart Vessels 31, 1016–1019 (2016). https://doi.org/10.1007/s00380-015-0661-5

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  • DOI: https://doi.org/10.1007/s00380-015-0661-5

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