期刊
RESPIROLOGY
卷 20, 期 1, 页码 122-128出版社
WILEY
DOI: 10.1111/resp.12422
关键词
gene mutation; idiopathic pulmonary fibrosis; telomerase reverse transcriptase; telomerase RNA component
资金
- Nature Science Foundation of China [81170002]
- Province Health Department of Medicine leading talent and innovation team project [LJ201109]
- National Basic Research Program of China [2009CB918704]
- Science and Technology Project of Jiangsu Province [BL2014053]
- PhD Programs Foundation of Ministry of Education of China [20110091120032]
- Foundation of Nanjing Municipal Public Health Bureau [ZKX11030]
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 (160.16728.089x10(9)) compared with the non-mutation groups (191.01871.187x10(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. Six novel mutations in the telomerase genes with shorter telomeres were identified for the first time in sporadic idiopathic pulmonary fibrosis (IPF) in a Chinese Han population. Shorter telomeres and mild thrombocytopaenia could be clues to association with telomerase gene mutation and sporadic IPF.
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