Idiopathic pulmonary fibrosis: a genetic disease that involves mucociliary dysfunction of the peripheral airways

CM Evans, TE Fingerlin, MI Schwarz… - Physiological …, 2016 - journals.physiology.org
Idiopathic pulmonary fibrosis (IPF) is an incurable complex genetic disorder that is
associated with sequence changes in 7 genes (MUC5B, TERT, TERC, RTEL1, PARN …

Challenges and opportunities in genome-wide environmental interaction (GWEI) studies

H Aschard, S Lutz, B Maus, EJ Duell, TE Fingerlin… - Human genetics, 2012 - Springer
The interest in performing gene–environment interaction studies has seen a significant
increase with the increase of advanced molecular genetics techniques. Practically, it …

[HTML][HTML] A Common MUC5B Promoter Polymorphism and Pulmonary Fibrosis

MA Seibold, AL Wise, MC Speer… - … England Journal of …, 2011 - Mass Medical Soc
Background The mutations that have been implicated in pulmonary fibrosis account for only
a small proportion of the population risk. Methods Using a genomewide linkage scan, we …

[HTML][HTML] Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

D Taliun, DN Harris, MD Kessler, J Carlson… - Nature, 2021 - nature.com
Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …

The genetic architecture of type 2 diabetes

C Fuchsberger, J Flannick, TM Teslovich, A Mahajan… - Nature, 2016 - nature.com
The genetic architecture of common traits, including the number, frequency, and effect sizes
of inherited variants that contribute to individual risk, has been long debated. Genome-wide …

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

AG Bick, JS Weinstock, SK Nandakumar, CP Fulco… - Nature, 2020 - nature.com
Age is the dominant risk factor for most chronic human diseases, but the mechanisms
through which ageing confers this risk are largely unknown. The age-related acquisition of …

Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis

TE Fingerlin, E Murphy, W Zhang, AL Peljto… - Nature …, 2013 - nature.com
We performed a genome-wide association study of non-Hispanic, white individuals with
fibrotic idiopathic interstitial pneumonias (IIPs; n= 1,616) and controls (n= 4,683), with follow …

Genetics of sarcoidosis

TE Fingerlin, N Hamzeh… - Clinics in chest …, 2015 - chestmed.theclinics.com
Sarcoidosis is a multisystem, T-helper 1 (Th1) cell biased granulomatous disorder that
develops in genetically predisposed individuals who are exposed to yet unknown …

Association between the MUC5B promoter polymorphism and survival in patients with idiopathic pulmonary fibrosis

AL Peljto, Y Zhang, TE Fingerlin, SF Ma, JGN Garcia… - Jama, 2013 - jamanetwork.com
Importance Current prediction models of mortality in idiopathic pulmonary fibrosis (IPF),
which are based on clinical and physiological parameters, have modest value in predicting …

Association between telomere length and risk of cancer and non-neoplastic diseases: a Mendelian randomization study

PC Haycock, S Burgess, A Nounu, J Zheng… - JAMA …, 2017 - jamanetwork.com
Importance The causal direction and magnitude of the association between telomere length
and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility …