TY - JOUR T1 - A genome-wide association study identifies an association of a common variant in <em>TERT</em> with susceptibility to idiopathic pulmonary fibrosis JF - Journal of Medical Genetics JO - J Med Genet SP - 654 LP - 656 DO - 10.1136/jmg.2008.057356 VL - 45 IS - 10 AU - T Mushiroda AU - S Wattanapokayakit AU - A Takahashi AU - T Nukiwa AU - S Kudoh AU - T Ogura AU - H Taniguchi AU - M Kubo AU - N Kamatani AU - Y Nakamura AU - the Pirfenidone Clinical Study Group Y1 - 2008/10/01 UR - http://jmg.bmj.com/content/45/10/654.abstract N2 - 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. ER -