التفاصيل البيبلوغرافية
العنوان:
Integrative Genomics Analysis Identifies ACVR1B as a Candidate Causal Gene of Emphysema Distribution
المؤلفون:
Adel Boueiz , Betty Pham , Robert Chase , Andrew Lamb , Sool Lee , Zun Zar Chi Naing , Michael H. Cho , Margaret M. Parker , Phuwanat Sakornsakolpat , Craig P. Hersh , James D. Crapo , Andrew B. Stergachis , Ruth Tal-Singer , Dawn L. DeMeo , Edwin K. Silverman , Xiaobo Zhou , Peter J. Castaldi , Barry J. Make , Elizabeth A. Regan , Terri Beaty , Ferdouse Begum , Michael Cho , Marilyn G. Foreman , Eitan Halper-Stromberg , Lystra P. Hayden , Jacqueline Hetmanski , Brian D. Hobbs , John E. Hokanson , Nan Laird , Christoph Lange , Sharon M. Lutz , Merry-Lynn McDonald , Dandi Qiao , Emily S. Wan , Sungho Won , Dmitry Prokopenko , Mustafa Al Qaisi , Harvey O. Coxson , Teresa Gray , MeiLan K. Han , Eric A. Hoffman , Stephen Humphries , Francine L. Jacobson , Philip F. Judy , Ella A. Kazerooni , Alex Kluiber , David A. Lynch , John D. Newell , James C. Ross , Raul San Jose Estepar , Joyce Schroeder , Jered Sieren , Douglas Stinson , Berend C. Stoel , Juerg Tschirren , Edwin Van Beek , Bram van Ginneken , Eva van Rikxoort , George Washko , Carla G. Wilson , Robert Jensen , Douglas Everett , Jim Crooks , Camille Moore , Matt Strand , John Hughes , Gregory Kinney , Katherine Pratte , Kendra A. Young , Surya Bhatt , Jessica Bon , Barry Make , Carlos Martinez , Susan Murray , Elizabeth Regan , Xavier Soler , Russell P. Bowler , Katerina Kechris , Farnoush Banaei-Kashani , Y. Ivanov , K. Kostov , J. Bourbeau , M. Fitzgerald , P. Hernandez , K. Killian , R. Levy , F. Maltais , D. O’Donnell , J. Krepelka , J. Vestbo , E. Wouters , D. Quinn , P. Bakke , M. Kosnik , A. Agusti , J. Sauleda , Y. Feschenko , V. Gavrisyuk , L. Yashina , N. Monogarova , P. Calverley , D. Lomas , W. MacNee , D. Singh , J. Wedzicha , A. Anzueto , S. Braman , R. Casaburi , B. Celli , G. Giessel , M. Gotfried , G. Greenwald , Rancho Mirage , N. Hanania , D. Mahler , B. Make , S. Rennard , C. Rochester , P. Scanlon , D. Schuller , F. Sciurba , A. Sharafkhaneh , T. Siler , E. Silverman , A. Wanner , R. Wise , R. ZuWallack , H. Coxson , C. Crim , L. Edwards , R. Tal-Singer , J. Yates , B. Miller , Per Bakke , Amund Gulsvik
المساهمون:
RS: NUTRIM - R3 - Respiratory & Age-related Health, Pulmonologie, MUMC+: MA Longziekten (3)
المصدر:
American Journal of Respiratory Cell and Molecular Biology
بيانات النشر:
American Thoracic Society, 2019.
سنة النشر:
2019
مصطلحات موضوعية:
EXPRESSION , 0301 basic medicine , Pulmonary and Respiratory Medicine , Quantitative Trait Loci , Clinical Biochemistry , Genome-wide association study , Computational biology , Biology , Polymorphism, Single Nucleotide , Proof of Concept Study , OBSTRUCTIVE PULMONARY-DISEASE , chronic obstructive pulmonary disease , Transforming Growth Factor beta1 , Jurkat Cells , Pulmonary Disease, Chronic Obstructive , integrative genomics , 03 medical and health sciences , 0302 clinical medicine , T-Lymphocyte Subsets , Cell Line, Tumor , Humans , WIDE ASSOCIATION , GWAS , Distribution (pharmacology) , Genetic Predisposition to Disease , LUNG-VOLUME-REDUCTION , Lung , Molecular Biology , Gene , ACVR1B , Original Research , ACVR1B gene , Genetic association , Emphysema , emphysema distribution , LANDSCAPE , transforming growth factor-beta signaling , Editorials , DNA , Genomics , Cell Biology , Integrative genomics , Causal gene , ACVR1B Gene , 030104 developmental biology , Pulmonary Emphysema , 030228 respiratory system , Activin Receptors, Type I , Genome-Wide Association Study
الوصف:
Genome-wide association studies (GWAS) have identified multiple associations with emphysema apicobasal distribution (EABD), but the biological functions of these variants are unknown. To characterize the functions of EABD-associated variants, we integrated GWAS results with 1) expression quantitative trait loci (eQTL) from the Genotype Tissue Expression (GTEx) project and subjects in the COPDGene (Genetic Epidemiology of COPD) study and 2) cell type epigenomic marks from the Roadmap Epigenomics project. On the basis of these analyses, we selected a variant near ACVR1B (activin A receptor type 1B) for functional validation. SNPs from 168 loci with P values less than 5 × 10(−5) in the largest GWAS meta-analysis of EABD were analyzed. Eighty-four loci overlapped eQTL, with 12 of these loci showing greater than 80% likelihood of harboring a single, shared GWAS and eQTL causal variant. Seventeen cell types were enriched for overlap between EABD loci and Roadmap Epigenomics marks (permutation P
تدمد:
1535-4989
URL الوصول:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cac792debcc53f06a73a07f6861730e4 https://doi.org/10.1165/rcmb.2018-0110oc
حقوق:
OPEN
رقم الأكسشن:
edsair.doi.dedup.....cac792debcc53f06a73a07f6861730e4
قاعدة البيانات:
OpenAIRE
