What do polymorphisms tell us about the mechanisms of COPD?

被引：17

作者：

Li, Yan ^{[1
,2
]}

Cho, Michael H. ^{[1
,2
,3
]}

Zhou, Xiaobo ^{[1
,2
,3
]}

机构：

[1] Brigham & Womens Hosp, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA

[2] Harvard Med Sch, Boston, MA 02115 USA

[3] Brigham & Womens Hosp, Dept Med, Div Pulm & Crit Care Med, 75 Francis St, Boston, MA 02115 USA

来源：

CLINICAL SCIENCE | 2017年 / 131卷 / 24期

基金：

美国国家卫生研究院;

关键词：

OBSTRUCTIVE PULMONARY-DISEASE; GENOME-WIDE ASSOCIATION; HEDGEHOG-INTERACTING PROTEIN; PLURIPOTENT STEM-CELLS; LUNG-FUNCTION; CIGARETTE-SMOKE; GENETIC-VARIATION; BETA-CATENIN; FUNCTIONAL DISSECTION; TELOMERASE MUTATIONS;

D O I：

10.1042/CS20160718

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

COPD (chronic obstructive pulmonary disease) is characterized by irreversible lung airflow obstruction. Cigarette smoke is the major risk factor for COPD development. However, only a minority number of smokers develop COPD, and there are substantial variations in lung function among smokers, suggesting that genetic determinants in COPD susceptibility. During the past decade, genome-wide association studies and exome sequencing have been instrumental to identify the genetic determinants of complex traits, including COPD. Focused studies have revealed mechanisms by which genetic variants contribute to COPD and have led to novel insights in COPD pathogenesis. Through functional investigations of causal variants in COPD, from the proteinase-antiproteinase theory to emerging roles of developmental pathways (such as Hedgehog and Wnt pathways) in COPD, we have greatly expanded our understanding on this complex pulmonary disease. In this review, we critically review functional investigations on roles of genetic polymorphisms in COPD, and discuss future challenges and opportunities in discovering novel mechanisms of functional variants.

引用

页码：2847 / 2863

页数：17

共 189 条

[1] Telomerase mutations in families with idiopathic pulmonary fibrosis [J].

Armanios, Mary Y. ;

Chen, Julian J. -L. ;

Cogan, Joy D. ;

Alder, Jonathan K. ;

Ingersoll, Roxann G. ;

Markin, Cheryl ;

Lawson, William E. ;

Xie, Mingyi ;

Vulto, Irma ;

Phillips, John A., III ;

Lansdorp, Peter M. ;

Greider, Carol W. ;

Loyd, James E. .

NEW ENGLAND JOURNAL OF MEDICINE, 2007, 356 (13) :1317-1326

[2] Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation [J].

Artigas, Maria Soler ;

Wain, Louise V. ;

Miller, Suzanne ;

Kheirallah, Abdul Kader ;

Huffman, Jennifer E. ;

Ntalla, Ioanna ;

Shrine, Nick ;

Obeidat, Ma'en ;

Trochet, Holly ;

McArdle, Wendy L. ;

Alves, Alexessander Couto ;

Hui, Jennie ;

Zhao, Jing Hua ;

Joshi, Peter K. ;

Teumer, Alexander ;

Albrecht, Eva ;

Imboden, Medea ;

Rawal, Rajesh ;

Lopez, Lorna M. ;

Marten, Jonathan ;

Enroth, Stefan ;

Surakka, Ida ;

Polasek, Ozren ;

Lyytikainen, Leo-Pekka ;

Granell, Raquel ;

Hysi, Pirro G. ;

Flexeder, Claudia ;

Mahajan, Anubha ;

Beilby, John ;

Bosse, Yohan ;

Brandsma, Corry-Anke ;

Campbell, Harry ;

Gieger, Christian ;

Glaeser, Sven ;

Gonzalez, Juan R. ;

Grallert, Harald ;

Hammond, Chris J. ;

Harris, Sarah E. ;

Hartikainen, Anna-Liisa ;

Heliovaara, Markku ;

Henderson, John ;

Hocking, Lynne ;

Horikoshi, Momoko ;

Hutri-Kahonen, Nina ;

Ingelsson, Erik ;

Johansson, Asa ;

Kemp, John P. ;

Kolcic, Ivana ;

Kumar, Ashish ;

Lind, Lars .

NATURE COMMUNICATIONS, 2015, 6

[3] Effect of Five Genetic Variants Associated with Lung Function on the Risk of Chronic Obstructive Lung Disease, and Their Joint Effects on Lung Function [J].

Artigas, Maria Soler ;

Wain, Louise V. ;

Repapi, Emmanouela ;

Obeidat, Ma'en ;

Sayers, Ian ;

Burton, Paul R. ;

Johnson, Toby ;

Zhao, Jing Hua ;

Albrecht, Eva ;

Dominiczak, Anna F. ;

Kerr, Shona M. ;

Smith, Blair H. ;

Cadby, Gemma ;

Hui, Jennie ;

Palmer, Lyle J. ;

Hingorani, Aroon D. ;

Wannamethee, S. Goya ;

Whincup, Peter H. ;

Ebrahim, Shah ;

Smith, George Davey ;

Barroso, Ines ;

Loos, Ruth J. F. ;

Wareham, Nicholas J. ;

Cooper, Cyrus ;

Dennison, Elaine ;

Shaheen, Seif O. ;

Liu, Jason Z. ;

Marchini, Jonathan ;

Dahgam, Santosh ;

Naluai, Asa Torinsson ;

Olin, Anna-Carin ;

Karrasch, Stefan ;

Heinrich, Joachim ;

Schulz, Holger ;

McKeever, Tricia M. ;

Pavord, Ian D. ;

Heliovaara, Markku ;

Ripatti, Samuli ;

Surakka, Ida ;

Blakey, John D. ;

Kahonen, Mika ;

Britton, John R. ;

Nyberg, Fredrik ;

Holloway, John W. ;

Lawlor, Debbie A. ;

Morris, Richard W. ;

James, Alan L. ;

Jackson, Cathy M. ;

Hall, Ian P. ;

Tobin, Martin D. .

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2011, 184 (07) :786-795

[4] Leptin, adiponectin and pulmonary diseases [J].

Assad, Nour Ali ;

Sood, Akshay .

BIOCHIMIE, 2012, 94 (10) :2180-2189

[5] Exome sequencing as a tool for Mendelian disease gene discovery [J].

Bamshad, Michael J. ;

Ng, Sarah B. ;

Bigham, Abigail W. ;

Tabor, Holly K. ;

Emond, Mary J. ;

Nickerson, Deborah A. ;

Shendure, Jay .

NATURE REVIEWS GENETICS, 2011, 12 (11) :745-755

[6] Chronic obstructive pulmonary disease [J].

Barnes, Peter J. ;

Burney, Peter G. J. ;

Silverman, Edwin K. ;

Celli, Bartolome R. ;

Vestbo, Jorgen ;

Wedzicha, Jadwiga A. ;

Wouters, Emiel F. M. .

NATURE REVIEWS DISEASE PRIMERS, 2015, 1

[7] Chronic obstructive pulmonary disease: molecular and cellular mechanisms [J].

Barnes, PJ ;

Shapiro, SD ;

Pauwels, RA .

EUROPEAN RESPIRATORY JOURNAL, 2003, 22 (04) :672-688

[8] An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level [J].

Bauer, Daniel E. ;

Kamran, Sophia C. ;

Lessard, Samuel ;

Xu, Jian ;

Fujiwara, Yuko ;

Lin, Carrie ;

Shao, Zhen ;

Canver, Matthew C. ;

Smith, Elenoe C. ;

Pinello, Luca ;

Sabo, Peter J. ;

Vierstra, Jeff ;

Voit, Richard A. ;

Yuan, Guo-Cheng ;

Porteus, Matthew H. ;

Stamatoyannopoulos, John A. ;

Lettre, Guillaume ;

Orkin, Stuart H. .

SCIENCE, 2013, 342 (6155) :253-257

[9] Association between Functional Small Airway Disease and FEV1 Decline in Chronic Obstructive Pulmonary Disease [J].

Bhatt, Surya P. ;

Soler, Xavier ;

Wang, Xin ;

Murray, Susan ;

Anzueto, Antonio R. ;

Beaty, Terri H. ;

Boriek, Aladin M. ;

Casaburi, Richard ;

Criner, Gerard J. ;

Diaz, Alejandro A. ;

Dransfield, Mark T. ;

Curran-Everett, Douglas ;

Galban, Craig J. ;

Hoffman, Eric A. ;

Hogg, James C. ;

Kazerooni, Ella A. ;

Kim, Victor ;

Kinney, Gregory L. ;

Lagstein, Amir ;

Lynch, David A. ;

Make, Barry J. ;

Martinez, Fernando J. ;

Ramsdell, Joe W. ;

Reddy, Rishindra ;

Ross, Brian D. ;

Rossiter, Harry B. ;

Steiner, Robert M. ;

Strand, Matthew J. ;

van Beek, Edwin J. R. ;

Wan, Emily S. ;

Washko, George R. ;

Wells, J. Michael ;

Wendt, Chris H. ;

Wise, Robert A. ;

Silverman, Edwin K. ;

Crapo, James D. ;

Bowler, Russell P. ;

Han, MeiLan K. .

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2016, 194 (02) :178-184

[10] Mapping of a major genetic modifier of embryonic lethality in TGF beta 1 knockout mice [J].

Bonyadi, M ;

Rusholme, SAB ;

Cousins, FM ;

Su, HC ;

Biron, CA ;

Farrall, M ;

Akhurst, RJ .

NATURE GENETICS, 1997, 15 (02) :207-211

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