Vol.23 No.6

Original Article

Interferon regulatory factor 5 polymorphisms in sarcoidosis

Authors

Kiminobu Tanizawa 1 , Tomohiro Handa1, 2 , Sonoko Nagai3 , Hiroe Sato4 , Ryo Yamada5 , Isao Ito 1 , Takeshi Kubo6 , Yutaka Ito 1 , Kizuku Watanabe 1 , Kensaku Aihara 1 , Kohei Ikezoe1 , Michiaki Mishima 1

  • Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, 54 Shogoin Kawaharacho, Sakyo-ku, Kyoto 606-8507, Japan
  • Department of Rehabilitation Medicine, Kyoto University Hospital, 54 Shogoin Kawaharacho, Sakyo-ku, Kyoto 606-8507, Japan
  • Kyoto Central Clinic, Clinical Research Center, 56-58 Masuyacho Sanjo-Takakura, Nakagyo-ku, Kyoto 604-8111, Japan
  • Clinical Genomics Group, Royal Brompton Hospital and NHLI, Imperial College London, 1B Manresa Road, London, SW3 6LR, UK
  • Center for Genomic Medicine, Graduate School of Medicine, Kyoto University, 54 Shogoin Kawaharacho, Sakyo-ku, Kyoto 606-8507, Japan
  • Department of Diagnostic Imaging and Nuclear Medicine, Graduate School of Medicine, Kyoto University, 54 Shogoin Kawaharacho, Sakyo-ku, Kyoto 606-8507, Japan
Received:

11 January 2012

Accepted:

5 December 2012

Published online:

4 January 2013

Full Text

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Abstract

Objective Interferon regulatory factor 5 (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 biopsyproven 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?3.33, P = 0.01, corrected P = 0.04;carriage of rs2280714A: OR = 1.97, 95 % CI = 1.22?3.16, P = 0.005, corrected P = 0.02]. The haplotype carrying rs10954213A and rs2280714A (haplotype 2) was significantly associated with susceptibility to sarcoidosis (OR = 2.00, 95 % CI = 1.24?3.24, 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?0.15, P%ABST%.001, corrected P%ABST%.001).
Conclusion A haplotype carrying two functional SNPs of IRF5, rs10954213A and rs2280714A, was associated with the risk of sarcoidosis in the Japanese population.

Key words

Interferon regulatory factor 5, Haplotype, Pulmonary hypertension, Sarcoidosis, Single-nucleotide polymorphism