Literature DB >> 27564671

Risk of Lung Disease in PI MZ Heterozygotes. Current Status and Future Research Directions.

Edwin K Silverman1.   

Abstract

The potential for increased chronic obstructive pulmonary disease (COPD) risk among PI MZ subjects was initially recognized decades ago. However, despite many studies of this topic, it has remained controversial whether such increased risk exists. Several recent studies in large populations strongly support increased risk for COPD among PI MZ subjects. This increased PI MZ risk will need to be understood in the context of other identified COPD genetic determinants and investigations of COPD phenotypic heterogeneity.

Entities:  

Keywords:  alpha-1 antitrypsin deficiency; association analysis; chronic obstructive pulmonary disease; genetics; heterozygote risk

Mesh:

Substances:

Year:  2016        PMID: 27564671      PMCID: PMC5059493          DOI: 10.1513/AnnalsATS.201507-437KV

Source DB:  PubMed          Journal:  Ann Am Thorac Soc        ISSN: 2325-6621


  27 in total

Review 1.  Clinical practice. Alpha1-antitrypsin deficiency.

Authors:  Edwin K Silverman; Robert A Sandhaus
Journal:  N Engl J Med       Date:  2009-06-25       Impact factor: 91.245

2.  The COPD genetic association compendium: a comprehensive online database of COPD genetic associations.

Authors:  Peter J Castaldi; Michael H Cho; Matthew Cohn; Fawn Langerman; Sienna Moran; Nestor Tarragona; Hala Moukhachen; Radhika Venugopal; Delvina Hasimja; Esther Kao; Byron Wallace; Craig P Hersh; Sachin Bagade; Lars Bertram; Edwin K Silverman; Thomas A Trikalinos
Journal:  Hum Mol Genet       Date:  2009-11-20       Impact factor: 6.150

3.  Polymers of Z alpha1-antitrypsin co-localize with neutrophils in emphysematous alveoli and are chemotactic in vivo.

Authors:  Ravi Mahadeva; Carl Atkinson; Zhenjun Li; Susan Stewart; Sabina Janciauskiene; Diane G Kelley; Jasvir Parmar; Rebecca Pitman; Steven D Shapiro; David A Lomas
Journal:  Am J Pathol       Date:  2005-02       Impact factor: 4.307

4.  Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency.

Authors:  Dawn L Demeo; Robert A Sandhaus; Alan F Barker; Mark L Brantly; Edward Eden; N Gerard McElvaney; Stephen Rennard; Esteban Burchard; James M Stocks; James K Stoller; Charlie Strange; Gerard M Turino; Edward J Campbell; Edwin K Silverman
Journal:  Thorax       Date:  2007-03-27       Impact factor: 9.139

Review 5.  Meta-analyses on suspected chronic obstructive pulmonary disease genes: a summary of 20 years' research.

Authors:  Joanna Smolonska; Cisca Wijmenga; Dirkje S Postma; H Marike Boezen
Journal:  Am J Respir Crit Care Med       Date:  2009-07-16       Impact factor: 21.405

Review 6.  Chronic obstructive pulmonary disease in alpha1-antitrypsin PI MZ heterozygotes: a meta-analysis.

Authors:  C P Hersh; M Dahl; N P Ly; C S Berkey; B G Nordestgaard; E K Silverman
Journal:  Thorax       Date:  2004-10       Impact factor: 9.139

Review 7.  alpha1-Antitrypsin augmentation therapy for PI*MZ heterozygotes: a cautionary note.

Authors:  Robert A Sandhaus; Gerard Turino; James Stocks; Charlie Strange; Bruce C Trapnell; Edwin K Silverman; Sarah E Everett; James K Stoller
Journal:  Chest       Date:  2008-10       Impact factor: 9.410

8.  Genome-wide association study identifies five loci associated with lung function.

Authors:  Emmanouela Repapi; Ian Sayers; Louise V Wain; Paul R Burton; Toby Johnson; Ma'en Obeidat; Jing Hua Zhao; Adaikalavan Ramasamy; Guangju Zhai; Veronique Vitart; Jennifer E Huffman; Wilmar Igl; Eva Albrecht; Panos Deloukas; John Henderson; Raquel Granell; Wendy L McArdle; Alicja R Rudnicka; Inês Barroso; Ruth J F Loos; Nicholas J Wareham; Linda Mustelin; Taina Rantanen; Ida Surakka; Medea Imboden; H Erich Wichmann; Ivica Grkovic; Stipan Jankovic; Lina Zgaga; Anna-Liisa Hartikainen; Leena Peltonen; Ulf Gyllensten; Asa Johansson; Ghazal Zaboli; Harry Campbell; Sarah H Wild; James F Wilson; Sven Gläser; Georg Homuth; Henry Völzke; Massimo Mangino; Nicole Soranzo; Tim D Spector; Ozren Polasek; Igor Rudan; Alan F Wright; Markku Heliövaara; Samuli Ripatti; Anneli Pouta; Asa Torinsson Naluai; Anna-Carin Olin; Kjell Torén; Matthew N Cooper; Alan L James; Lyle J Palmer; Aroon D Hingorani; S Goya Wannamethee; Peter H Whincup; George Davey Smith; Shah Ebrahim; Tricia M McKeever; Ian D Pavord; Andrew K MacLeod; Andrew D Morris; David J Porteous; Cyrus Cooper; Elaine Dennison; Seif Shaheen; Stefan Karrasch; Eva Schnabel; Holger Schulz; Harald Grallert; Nabila Bouatia-Naji; Jérôme Delplanque; Philippe Froguel; John D Blakey; John R Britton; Richard W Morris; John W Holloway; Debbie A Lawlor; Jennie Hui; Fredrik Nyberg; Marjo-Riitta Jarvelin; Cathy Jackson; Mika Kähönen; Jaakko Kaprio; Nicole M Probst-Hensch; Beate Koch; Caroline Hayward; David M Evans; Paul Elliott; David P Strachan; Ian P Hall; Martin D Tobin
Journal:  Nat Genet       Date:  2009-12-13       Impact factor: 38.330

9.  A genome-wide association study of pulmonary function measures in the Framingham Heart Study.

Authors:  Jemma B Wilk; Ting-Hsu Chen; Daniel J Gottlieb; Robert E Walter; Michael W Nagle; Brian J Brandler; Richard H Myers; Ingrid B Borecki; Edwin K Silverman; Scott T Weiss; George T O'Connor
Journal:  PLoS Genet       Date:  2009-03-20       Impact factor: 5.917

10.  A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.

Authors:  Sreekumar G Pillai; Dongliang Ge; Guohua Zhu; Xiangyang Kong; Kevin V Shianna; Anna C Need; Sheng Feng; Craig P Hersh; Per Bakke; Amund Gulsvik; Andreas Ruppert; Karin C Lødrup Carlsen; Allen Roses; Wayne Anderson; Stephen I Rennard; David A Lomas; Edwin K Silverman; David B Goldstein
Journal:  PLoS Genet       Date:  2009-03-20       Impact factor: 5.917

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  8 in total

1.  Alpha-1 Antitrypsin PiMZ Genotype Is Associated with Chronic Obstructive Pulmonary Disease in Two Racial Groups.

Authors:  Marilyn G Foreman; Carla Wilson; Dawn L DeMeo; Craig P Hersh; Terri H Beaty; Michael H Cho; John Ziniti; Douglas Curran-Everett; Gerard Criner; John E Hokanson; Mark Brantly; Farshid N Rouhani; Robert A Sandhaus; James D Crapo; Edwin K Silverman
Journal:  Ann Am Thorac Soc       Date:  2017-08

Review 2.  Genetic Advances in Chronic Obstructive Pulmonary Disease. Insights from COPDGene.

Authors:  Margaret F Ragland; Christopher J Benway; Sharon M Lutz; Russell P Bowler; Julian Hecker; John E Hokanson; James D Crapo; Peter J Castaldi; Dawn L DeMeo; Craig P Hersh; Brian D Hobbs; Christoph Lange; Terri H Beaty; Michael H Cho; Edwin K Silverman
Journal:  Am J Respir Crit Care Med       Date:  2019-09-15       Impact factor: 21.405

3.  Alpha-1 Antitrypsin MZ Heterozygosity Is an Endotype of Chronic Obstructive Pulmonary Disease.

Authors:  Auyon J Ghosh; Brian D Hobbs; Matthew Moll; Aabida Saferali; Adel Boueiz; Jeong H Yun; Frank Sciurba; Lucas Barwick; Andrew H Limper; Kevin Flaherty; Gerard Criner; Kevin K Brown; Robert Wise; Fernando J Martinez; David Lomas; Peter J Castaldi; Vincent J Carey; Dawn L DeMeo; Michael H Cho; Edwin K Silverman; Craig P Hersh
Journal:  Am J Respir Crit Care Med       Date:  2022-02-01       Impact factor: 21.405

4.  Clarifying the Risk of Lung Disease in SZ Alpha-1 Antitrypsin Deficiency.

Authors:  Alessandro N Franciosi; Brian D Hobbs; Oliver J McElvaney; Kevin Molloy; Craig Hersh; Louise Clarke; Cedric Gunaratnam; Edwin K Silverman; Tomás P Carroll; Noel G McElvaney
Journal:  Am J Respir Crit Care Med       Date:  2020-07-01       Impact factor: 21.405

5.  Pleiotropic associations of heterozygosity for the SERPINA1 Z allele in the UK Biobank.

Authors:  Katherine A Fawcett; Kijoung Song; Guoqing Qian; Aliki-Eleni Farmaki; Richard Packer; Catherine John; Nick Shrine; Raquel Granell; Sue Ring; Nicholas J Timpson; Laura M Yerges-Armstrong; Richard Eastell; Louise V Wain; Robert A Scott; Martin D Tobin; Ian P Hall
Journal:  ERJ Open Res       Date:  2021-05-10

6.  Heterozygosity of the Alpha 1-Antitrypsin Pi*Z Allele and Risk of Liver Disease.

Authors:  Aaron Hakim; Matthew Moll; Dandi Qiao; Jiangyuan Liu; Jessica A Lasky-Su; Edwin K Silverman; Silvia Vilarinho; Z Gordon Jiang; Brian D Hobbs; Michael H Cho
Journal:  Hepatol Commun       Date:  2021-04-03

Review 7.  Alpha-1 antitrypsin (AAT) augmentation therapy in individuals with the PI*MZ genotype: a pro/con debate on a working hypothesis.

Authors:  Igor Barjaktarevic; Marc Miravitlles
Journal:  BMC Pulm Med       Date:  2021-03-23       Impact factor: 3.317

Review 8.  Alpha-1 antitrypsin deficiency: outstanding questions and future directions.

Authors:  María Torres-Durán; José Luis Lopez-Campos; Miriam Barrecheguren; Marc Miravitlles; Beatriz Martinez-Delgado; Silvia Castillo; Amparo Escribano; Adolfo Baloira; María Mercedes Navarro-Garcia; Daniel Pellicer; Lucía Bañuls; María Magallón; Francisco Casas; Francisco Dasí
Journal:  Orphanet J Rare Dis       Date:  2018-07-11       Impact factor: 4.123

  8 in total

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