Association of IREB2 and CHRNA3 polymorphisms with airflow obstruction in severe alpha-1 antitrypsin deficiency.

Respiratory Research
Woo Jin KimDawn L DeMeo

Abstract

The development of COPD in subjects with alpha-1 antitrypsin (AAT) deficiency is likely to be influenced by modifier genes. Genome-wide association studies and integrative genomics approaches in COPD have demonstrated significant associations with SNPs in the chromosome 15q region that includes CHRNA3 (cholinergic nicotine receptor alpha3) and IREB2 (iron regulatory binding protein 2).We investigated whether SNPs in the chromosome 15q region would be modifiers for lung function and COPD in AAT deficiency. The current analysis included 378 PIZZ subjects in the AAT Genetic Modifiers Study and a replication cohort of 458 subjects from the UK AAT Deficiency National Registry. Nine SNPs in LOC123688, CHRNA3 and IREB2 were selected for genotyping. FEV1 percent of predicted and FEV1/FVC ratio were analyzed as quantitative phenotypes. Family-based association analysis was performed in the AAT Genetic Modifiers Study. In the replication set, general linear models were used for quantitative phenotypes and logistic regression models were used for the presence/absence of emphysema or COPD. Three SNPs (rs2568494 in IREB2, rs8034191 in LOC123688, and rs1051730 in CHRNA3) were associated with pre-bronchodilator FEV1 percent of predicted in th...Continue Reading

References

Nov 1, 1990·The American Review of Respiratory Disease·E K SilvermanE J Campbell
Jun 23, 1998·American Journal of Human Genetics·J R O'Connell, D E Weeks
Feb 25, 1999·American Journal of Respiratory Cell and Molecular Biology·A NovoradovskyJ Moss
Apr 14, 2000·American Journal of Respiratory and Critical Care Medicine·K SoejimaT Shiomi
Oct 3, 2003·American Journal of Respiratory and Critical Care Medicine·UNKNOWN American Thoracic Society, UNKNOWN European Respiratory Society
Jan 24, 2004·American Journal of Human Genetics·Christoph LangeNan M Laird
Apr 24, 2004·Annals of the New York Academy of Sciences·Kostas Pantopoulos
Oct 26, 2005·Nature Genetics·Paul I W de BakkerDavid Altshuler
Mar 29, 2007·Thorax·Dawn L DemeoEdwin K Silverman
May 18, 2007·American Journal of Respiratory and Critical Care Medicine·Klaus F RabeUNKNOWN Global Initiative for Chronic Obstructive Lung Disease
Aug 11, 2007·American Journal of Respiratory Cell and Molecular Biology·Dawn L DemeoEdwin K Silverman
Jul 16, 2008·Respiratory Research·Alice M WoodRobert A Stockley
Oct 22, 2008·Human Heredity·D L DeMeoE K Silverman
Oct 6, 2009·American Journal of Human Genetics·Dawn L DeMeoEdwin K Silverman
Dec 17, 2009·American Journal of Respiratory and Critical Care Medicine·Diether LambrechtsWim Janssens
Jun 4, 2010·Occupational and Environmental Medicine·Alice M WoodRobert A Stockley
Jul 27, 2010·American Journal of Respiratory and Critical Care Medicine·Sreekumar G PillaiUNKNOWN ECLIPSE and ICGN Investigators

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Citations

Jun 19, 2013·BioDrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy·Alice M Turner
Apr 11, 2014·Disease Models & Mechanisms·Raafe GhouseDavid H Perlmutter
Jul 30, 2014·Future Medicinal Chemistry·Mun Peak Nyon, Bibek Gooptu
Feb 11, 2014·Clinics in Chest Medicine·Robert A Stockley
May 21, 2013·Translational Research : the Journal of Laboratory and Clinical Medicine·Shambhu AryalDavid M Mannino
Sep 21, 2015·Revue des maladies respiratoires·H VignaudM Bouchecareilh
Dec 3, 2015·Multidisciplinary Respiratory Medicine·Heena Khiroya, Alice M Turner
May 15, 2013·The Journal of Pediatrics·Gary A SilvermanDavid H Perlmutter
Aug 27, 2016·Annals of the American Thoracic Society·David A Lomas
May 13, 2017·The International Journal of Biochemistry & Cell Biology·Md Khadem AliJay C Horvat
Feb 10, 2018·European Journal of Human Genetics : EJHG·Ivana NedeljkovicNajaf Amin
Feb 16, 2018·Alimentary Pharmacology & Therapeutics·S A TownsendA M Turner
Jul 29, 2016·Nature Reviews. Disease Primers·Catherine M GreeneNoel G McElvaney
Feb 20, 2019·Pharmaceuticals·Vida ZhangAirie Kim
Sep 26, 2019·Expert Opinion on Investigational Drugs·Anita Pye, Alice M Turner
Nov 18, 2016·American Journal of Respiratory Cell and Molecular Biology·Megan HardinUNKNOWN COPDGene and Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-Points Investigators
Apr 16, 2017·American Journal of Respiratory and Critical Care Medicine·Suzanne M CloonanGregory J Quinlan
Jul 13, 2018·Orphanet Journal of Rare Diseases·María Torres-DuránFrancisco Dasí
Apr 9, 2020·The New England Journal of Medicine·Pavel StrnadDavid A Lomas
Jun 6, 2013·Expert Review of Respiratory Medicine·Judith A Brebner, Robert A Stockley
Dec 19, 2017·Respiration; International Review of Thoracic Diseases·Emma V LowAlice M Turner
Aug 20, 2021·Therapeutic Advances in Chronic Disease·Franck F Rahaghi

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Methods Mentioned

BETA
PCR
genotyping
PBAT

Software Mentioned

SPSS
Tagger
PBAT
PEDCHECK

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