Interferon regulatory factor 5 polymorphisms in sarcoidosis

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• 作者：Kiminobu Tanizawa (1)
  Tomohiro Handa (1) (2)
  Sonoko Nagai (3)
  Hiroe Sato (4)
  Ryo Yamada (5)
  Isao Ito (1)
  Takeshi Kubo (6)
  Yutaka Ito (1)
  Kizuku Watanabe (1)
  Kensaku Aihara (1)
  Kohei Ikezoe (1)
  Michiaki Mishima (1)
  Takateru Izumi (3)
  
• 关键词：Interferon regulatory factor 5 ; Haplotype ; Pulmonary hypertension ; Sarcoidosis ; Single ; nucleotide polymorphism
• 刊名：Modern Rheumatology
• 出版年：2013
• 出版时间：November 2013
• 年：2013
• 卷：23
• 期：6
• 页码：1158-1165
• 全文大小：
• 作者单位：Kiminobu Tanizawa (1)
  Tomohiro Handa (1) (2)
  Sonoko Nagai (3)
  Hiroe Sato (4)
  Ryo Yamada (5)
  Isao Ito (1)
  Takeshi Kubo (6)
  Yutaka Ito (1)
  Kizuku Watanabe (1)
  Kensaku Aihara (1)
  Kohei Ikezoe (1)
  Michiaki Mishima (1)
  Takateru Izumi (3)
  
  1. Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, 54 Shogoin Kawaharacho, Sakyo-ku, Kyoto, 606-8507, Japan
  2. Department of Rehabilitation Medicine, Kyoto University Hospital, 54 Shogoin Kawaharacho, Sakyo-ku, Kyoto, 606-8507, Japan
  3. Kyoto Central Clinic, Clinical Research Center, 56-58 Masuyacho Sanjo-Takakura, Nakagyo-ku, Kyoto, 604-8111, Japan
  4. Clinical Genomics Group, Royal Brompton Hospital and NHLI, Imperial College London, 1B Manresa Road, London, SW3 6LR, UK
  5. Center for Genomic Medicine, Graduate School of Medicine, Kyoto University, 54 Shogoin Kawaharacho, Sakyo-ku, Kyoto, 606-8507, Japan
  6. Department of Diagnostic Imaging and Nuclear Medicine, Graduate School of Medicine, Kyoto University, 54 Shogoin Kawaharacho, Sakyo-ku, Kyoto, 606-8507, Japan
  
• ISSN：1439-7609

文摘

Objective Interferon regulatory factor5 (IRF5) gene polymorphisms are associated with susceptibility to autoimmune diseases. The aim of this study is to determine the roles of IRF5 single-nucleotide polymorphisms (SNPs) in sarcoidosis. Methods A total of 175 Japanese patients with biopsy-proven sarcoidosis and 150 sex-matched controls were genotyped for four IRF5 SNPs: rs729302A/C, rs2004640G/T, rs10954213A/G, and rs2280714G/A. The associations of these SNPs with susceptibility to sarcoidosis were examined. Results Carriage of rs10954213A and rs2280714A conferred significant risks for sarcoidosis [carriage of rs10954213A: odds ratio (OR)=1.96, 95% confidence interval (CI)=1.15.33, P=0.01, corrected P=0.04; carriage of rs2280714A: OR=1.97, 95% CI=1.22.16, P=0.005, corrected P=0.02]. The haplotype carrying rs10954213A and rs2280714A (haplotype2) was significantly associated with susceptibility to sarcoidosis (OR=2.00, 95% CI=1.24.24, P=0.004, corrected P=0.01). rs729302 and rs2004640 were not associated with susceptibility to sarcoidosis, whereas carriage of rs2004640G was protective against pulmonary hypertension (OR=0.017, 95% CI=0.002.15, P<0.001, corrected P<0.001). Conclusion A haplotype carrying two functional SNPs of IRF5, rs10954213A and rs2280714A, was associated with the risk of sarcoidosis in the Japanese population.