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A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis
  1. T Mushiroda1,
  2. S Wattanapokayakit2,
  3. A Takahashi3,
  4. T Nukiwa4,
  5. S Kudoh5,
  6. T Ogura6,
  7. H Taniguchi7,
  8. M Kubo8,
  9. N Kamatani3,
  10. Y Nakamura1,9,
  11. the Pirfenidone Clinical Study Group4
  1. 1
    Laboratory for Pharmacogenetics, Institute of Physical and Chemical Research, Tokyo, Japan
  2. 2
    Laboratory for Cardiovascular Diseases, Institute of Physical and Chemical Research, Tokyo, Japan
  3. 3
    Laboratory of Statistical Analysis, Institute of Physical and Chemical Research, Tokyo, Japan
  4. 4
    Department of Respiratory Oncology and Molecular Medicine, Institute of Development, Aging, and Cancer, Tohoku University, Sendai, Japan
  5. 5
    Fourth Department of Internal Medicine, Nippon Medical School, Tokyo, Japan
  6. 6
    Department of Respiratory Medicine, Kanagawa Cardiovascular and Respiratory Center, Yokohama, Japan
  7. 7
    Department of Respiratory Medicine and Allergy, Tosei General Hospital, Aichi, Japan
  8. 8
    Laboratory for genotyping, Institute of Physical and Chemical Research, Yokohama, Japan
  9. 9
    Laboratory of Molecular Medicine, Institute of Medical Science, University of Tokyo, Tokyo, Japan
  1. Dr Y Nakamura, Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan; yusuke{at}


In order to identify a gene(s) susceptible to idiopathic pulmonary fibrosis (IPF), we conducted a genome-wide association (GWA) study by genotyping 159 patients with IPF and 934 controls for 214 508 tag single-nucleotide polymorphisms (SNPs). We further evaluated selected SNPs in a replication sample set (83 cases and 535 controls) and found a significant association of an SNP in intron 2 of the TERT gene (rs2736100), which encodes a reverse transcriptase that is a component of a telomerase, with IPF; a combination of two data sets revealed a p value of 2.9×10−8 (GWA, 2.8×10−6; replication, 3.6×10−3). Considering previous reports indicating that rare mutations of TERT are found in patients with familial IPF, we suggest that the common genetic variation within TERT may contribute to the risk of sporadic IFP in the Japanese population.

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  • ▸ Supplementary figs, tables and methods are published online only at

  • Competing interests: None.

  • Ethics approval: Collection of blood samples and clinico-pathological information from patients and controls was undertaken with approval from the Ethical Committees at the SNP Research Center, The Institute of Physical and Chemical Research (RIKEN), Yokohama, Japan, and The Institute of Medical Science, The University of Tokyo, Tokyo, Japan.