A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis

T. Mushiroda, S. Wattanapokayakit, A. Takahashi, T. Nukiwa, S. Kudoh, T. Ogura, H. Taniguchi, Michiaki Kubo, N. Kamatani, Yusuke Nakamura

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Abstract

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.

Original languageEnglish
Pages (from-to)654-656
Number of pages3
JournalJournal of Medical Genetics
Volume45
Issue number10
DOIs
Publication statusPublished - 01-10-2008

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Idiopathic Pulmonary Fibrosis
Genome-Wide Association Study
Single Nucleotide Polymorphism
Telomerase
RNA-Directed DNA Polymerase
Introns
Genes
Genome
Mutation
Population

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Mushiroda, T. ; Wattanapokayakit, S. ; Takahashi, A. ; Nukiwa, T. ; Kudoh, S. ; Ogura, T. ; Taniguchi, H. ; Kubo, Michiaki ; Kamatani, N. ; Nakamura, Yusuke. / A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. In: Journal of Medical Genetics. 2008 ; Vol. 45, No. 10. pp. 654-656.
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Mushiroda, T, Wattanapokayakit, S, Takahashi, A, Nukiwa, T, Kudoh, S, Ogura, T, Taniguchi, H, Kubo, M, Kamatani, N & Nakamura, Y 2008, 'A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis', Journal of Medical Genetics, vol. 45, no. 10, pp. 654-656. https://doi.org/10.1136/jmg.2008.057356

A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. / Mushiroda, T.; Wattanapokayakit, S.; Takahashi, A.; Nukiwa, T.; Kudoh, S.; Ogura, T.; Taniguchi, H.; Kubo, Michiaki; Kamatani, N.; Nakamura, Yusuke.

In: Journal of Medical Genetics, Vol. 45, No. 10, 01.10.2008, p. 654-656.

Research output: Contribution to journalArticle

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AU - Wattanapokayakit, S.

AU - Takahashi, A.

AU - Nukiwa, T.

AU - Kudoh, S.

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AU - Taniguchi, H.

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AU - Nakamura, Yusuke

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