Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis

被引:54
|
作者
Allen, Richard J. [1 ]
Stockwell, Amy [2 ]
Oldham, Justin M. [3 ]
Guillen-Guio, Beatriz [1 ]
Schwartz, David A. [4 ,5 ,6 ]
Maher, Toby M. [7 ,8 ,9 ,10 ]
Flores, Carlos [11 ,12 ,13 ]
Noth, Imre [14 ]
Yaspan, Brian L. [2 ]
Jenkins, R. Gisli [7 ]
Wain, Louise, V [1 ,15 ]
机构
[1] Univ Leicester, Dept Hlth Sci, Leicester LE1 7RH, Leics, England
[2] Genentech Inc, San Francisco, CA 94080 USA
[3] Univ Calif Davis, Dept Internal Med, Davis, CA 95616 USA
[4] Natl Jewish Hlth, Ctr Genes Environm & Hlth, Denver, CO USA
[5] Univ Colorado, Dept Med, Denver, CO USA
[6] Univ Colorado, Dept Immunol, Denver, CO USA
[7] Imperial Coll, Natl Heart & Lung Inst, London, England
[8] Royal Brompton Hosp, London, England
[9] Harefield Hosp, London, England
[10] Univ Southern Calif, Div Pulm & Crit Care Med, Los Angeles, CA 90007 USA
[11] Inst Salud Carlos III, CIBER Enfermedades Resp, Madrid, Spain
[12] Inst Tecnol & Energias Renovables SA, Genom Div, Santa Cruz De Tenerife, Spain
[13] Hosp Univ Nuestra Senora Candelaria, Res Unit, Santa Cruz De Tenerife, Spain
[14] Univ Virginia, Div Pulm & Crit Care Med, Charlottesville, VA USA
[15] Natl Inst Hlth Res, Leicester Biomed Res Ctr, Leicester, Leics, England
基金
英国医学研究理事会; 英国惠康基金;
关键词
Idiopathic pulmonary fibrosis; DIAGNOSIS;
D O I
10.1136/thoraxjnl-2021-218577
中图分类号
R56 [呼吸系及胸部疾病];
学科分类号
摘要
Idiopathic pulmonary fibrosis (IPF) is a chronic lung condition with poor survival times. We previously published a genome-wide meta-analysis of IPF risk across three studies with independent replication of associated variants in two additional studies. To maximise power and to generate more accurate effect size estimates, we performed a genome-wide meta-analysis across all five studies included in the previous IPF risk genome-wide association studies. We used the distribution of effect sizes across the five studies to assess the replicability of the results and identified five robust novel genetic association signals implicating mTOR (mammalian target of rapamycin) signalling, telomere maintenance and spindle assembly genes in IPF risk.
引用
收藏
页码:829 / 833
页数:5
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