• Jinghong Dai, Hourong Cai, Yi Zhuang, Yongzheng Wu, Haiyan Min, Jinheng Li, Yi Shi, Qian Gao, and Long Yi.
• Department of Respiratory Medicine, Nanjing Drum Tower Hospital Affiliated to Medical School of Nanjing University, Nanjing, China; Jiangsu Key Laboratory of Molecular Medicine, Medical School of Nanjing University, Nanjing, China.
• Respirology. 2015 Jan 1; 20 (1): 122-8.

Background And ObjectiveIdiopathic pulmonary fibrosis (IPF) is an age-related disease and the most common manifestation of telomere-mediated disorders.MethodsWe collected detailed medical histories and DNA samples from 100 IPF patients seen at Nanjing Drum Tower Hospital Affiliated to Medical School of Nanjing University. All patients had sporadic IPF, with no family history reported. We screened all patients for telomerase reverse transcriptase (TERT) and telomerase RNA component (TERC) variants, and measured their telomere lengths in lymphocytes.ResultsSix novel telomerase gene mutations were identified in six IPF patients enrolled in the studies. They were two heterozygous mutations in TERC (257 G>A and 108 C>T) and four in TERT (R622H, T644M, V777L and F1032I). IPF patients with TERT/TERC mutations had significant thrombocytopaenia (160.167 ± 28.089 × 10(9)) compared with the non-mutation groups (191.018 ± 71.187 × 10(9), P = 0.047). All IPF patients with TERT/TERC mutations had shortened telomeres (0.656 ± 0.125) compared with the patients lacking TERT/TERC mutations (1.080 ± 0.6819, P = 0.0184). IPF patients lacking TERT or TERC mutations (1.080 ± 0.6819) had significantly shorter telomeres compared with age-matched healthy controls (1.244 ± 0.5890, P = 0.0355).ConclusionsSix novel mutations in the telomerase genes were identified for the first time in individuals diagnosed with sporadic IPF in a Chinese Han population. Shorter telomeres and mild thrombocytopaenia could be clues to association with telomerase gene mutation and sporadic IPF.© 2014 Asian Pacific Society of Respirology.

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