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Review

Candidate genes for COPD: current evidence and research

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Pages 2249-2255 | Published online: 19 Oct 2015

References

  • VestboJHurdSSAgustíAGGlobal strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary diseaseAm J Respir Crit Care Med201318734736522878278
  • PrinceMJWuFGuoYThe burden of disease in older people and implications for health policy and practiceLancet201538554956225468153
  • PostmaDSBushAvan den BergeMRisk factors and early origins of chronic obstructive pulmonary diseaseLancet201538589990925123778
  • CosioMGSaettaMAgustiAImmunologic aspects of chronic obstructive pulmonary diseaseN Engl J Med20093602445245419494220
  • TuderRPetracheIPathogenesis of chronic obstructive pulmonary diseaseJ Clin Invest20121222749275522850885
  • KirkhamPABarnesPJOxidative stress in COPDChest201314426627323880677
  • BagdonasERaudoniuteJBruzauskaiteINovel aspects of pathogenesis and regeneration mechanisms in COPDInt J Chron Obstruct Pulmon Dis201510995101326082624
  • SilvermanEKSandhausRAAlpha1-antitrypsin deficiencyN Engl J Med20093602749275719553648
  • OberCButteAJEliasJAGetting from genes to function in lung diseaseAm J Respir Crit Care Med201018273273720558629
  • PillaiSGGeDZhuGA genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility lociPLoS Genet20095e100042119300482
  • ChoMHCastaldiPJWanESA genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13Hum Mol Genet20122194795722080838
  • WilkJBShrineNRLoehrLRGenome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstructionAm J Respir Crit Care Med201218662263222837378
  • HardinMZielinskiJWanESCHRNA3/5, IREB2, and ADCY2 are associated with severe chronic obstructive pulmonary disease in PolandAm J Respir Cell Mol Biol20124720320822461431
  • KimWJOhYMKimTHCHRNA3 variant for lung cancer is associated with chronic obstructive pulmonary disease in KoreaRespiration20138611712223207642
  • YangLQiuFLuXFunctional polymorphisms of CHRNA3 predict risks of chronic obstructive pulmonary disease and lung cancer in ChinesePLoS One20127e4607123056235
  • PillaiSGKongXEdwardsLDLoci identified by genome-wide association studies influence different disease-related phenotypes in chronic obstructive pulmonary diseaseAm J Respir Crit Care Med20101821498150520656943
  • CastaldiPJChoMHSan Jose EsteparRGenome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patternsAm J Respir Crit Care Med201419039940925006744
  • SiedlinskiMTingleyDLipmanPJDissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibilityHum Genet201313243144123299987
  • CastaldiPJChoMHZhouXGenetic control of gene expression at novel and established chronic obstructive pulmonary disease lociHum Mol Genet2015241200121025315895
  • DeMeoDLMarianiTBhattacharyaSIntegration of genomic and genetic approaches implicates IREB2 as a COPD susceptibility geneAm J Hum Genet20098549350219800047
  • Zumbrennen-BulloughKBBeckerLGarrettLAbnormal brain iron metabolism in Irp2 deficient mice is associated with mild neurological and behavioral impairmentsPLoS One20149e9807224896637
  • LeeJHChoMHHershCPIREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary diseaseAm J Respir Cell Mol Biol20155236537625101718
  • ChoMHMcDonaldMLZhouXRisk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysisLancet Respir Med2014221422524621683
  • Van DurmeYMEijgelsheimMJoosGFHedgehog-interacting protein is a COPD susceptibility gene: the Rotterdam StudyEur Respir J201036899519996190
  • KimWJOhYMLeeJHGenetic variants in HHIP are associated with FEV1 in subjects with chronic obstructive pulmonary diseaseRespirology2013181202120923731023
  • XieJWuHXuYGene susceptibility identification in a longitudinal study confirms new loci in the development of chronic obstructive pulmonary disease and influences lung function declineRespir Res2015164925928290
  • WangBZhouHYangJAssociation of HHIP polymorphisms with COPD and COPD-related phenotypes in a Chinese Han populationGene201353110110523994291
  • HancockDBEijgelsheimMWilkJBMeta-analyses of genome-wide association studies identify multiple loci associated with pulmonary functionNat Genet201042455220010835
  • WilkJBChenTHGottliebDJA genome-wide association study of pulmonary function measures in the Framingham Heart StudyPLoS Genet20095e100042919300500
  • RepapiESayersIWainLVGenome-wide association study identifies five loci associated with lung functionNat Genet201042364420010834
  • ChoMHCastaldiPJHershCPA genome-wide association study of emphysema and airway quantitative imaging phenotypesAm J Respir Crit Care Med201519255956926030696
  • CastaldiPJDyJRossJCluster analysis in the COPDGene study identifies subtypes of smokers with distinct patterns of airway disease and emphysemaThorax201469416423
  • van der ValkRJPKreiner-MøllerEKooijmanMNA novel common variant in DCST2 is associated with length in early life and height in adulthoodHum Mol Genet2015241155116825281659
  • KerkhofMBoezenHMGranellRTransient early wheeze and lung function in early childhood associated with chronic obstructive pulmonary disease genesJ Allergy Clin Immunol20141336876.e6423886569
  • ChuangPTKawcakTMcMahonAPFeedback control of mammalian Hedgehog signaling by the Hedgehog-binding protein, Hip1, modulates Fgf signaling during branching morphogenesis of the lungGenes Dev20031734234712569124
  • LamontagneMCoutureCPostmaDSRefining susceptibility loci of chronic obstructive pulmonary disease with lung EQTLSPLoS One20138e7022023936167
  • ZhouXBaronRMHardinMIdentification of a chronic obstructive pulmonary disease genetic determinant that regulates HHIPHum Mol Genet2012211325133522140090
  • ZhouXQiuWSathirapongsasutiJFGene expression analysis uncovers novel hedgehog interacting protein (HHIP) effects in human bronchial epithelial cellsGenomics201310126327223459001
  • LaoTGlassKQiuWHaploinsufficiency of Hedgehog interacting protein causes increased emphysema induced by cigarette smoke through network rewiringGenome Med201571225763110
  • YoungRPWhittingtonCFHopkinsRJChromosome 4q31 locus in COPD is also associated with lung cancerEur Respir J2010361375138221119205
  • Lemjabbar-AlaouiHDasariVSidhuSSWnt and Hedgehog are critical mediators of cigarette smoke-induced lung cancerPLoS One20061e9317183725
  • ChoMHBoutaouiNKlandermanBJVariants in FAM13A are associated with chronic obstructive pulmonary diseaseNat Genet20104220020220173748
  • KimWJLimMNHongYAssociation of lung function genes with chronic obstructive pulmonary diseaseLung201419247348024737086
  • GuoYLinHGaoKGenetic analysis of IREB2, FAM13A and XRCC5 variants in Chinese Han patients with chronic obstructive pulmonary diseaseBiochem Biophys Res Commun201141528428722027142
  • LiXHawkinsGAAmplefordEJGenome-wide association study identifies TH1 pathway genes associated with lung function in asthmatic patientsJ Allergy Clin Immunol2013132313320.e31523541324
  • LeeJHChoMHHershCPGenetic susceptibility for chronic bronchitis in chronic obstructive pulmonary diseaseRespir Res20141511325241909
  • FingerlinTEMurphyEZhangWGenome-wide association study identifies multiple susceptibility loci for pulmonary fibrosisNat Genet20134561362023583980
  • CohenMReichensteinMEverts-van der WindACloning and characterization of FAM13A1 – a gene near a milk protein QTL on BTA6: evidence for population-wide linkage disequilibrium in Israeli HolsteinsGenomics20048437438315234000
  • CorvolHHodgesCADrummMLMoving beyond genetics: is FAM13A a major biological contributor in lung physiology and chronic lung diseases?J Med Genet20145164664925163686
  • JinZChungJWMeiWRegulation of nuclear-cytoplasmic shuttling and function of Family with sequence similarity 13, member A (Fam13a), by B56-containing PP2As and AktMol Biol Cell2015261160117325609086
  • BozinovskiSVlahosRHansenMAkt in the pathogenesis of COPDInt J Chron Obstruct Pulmon Dis20061313818046900
  • KimWJLeeMKShinCGenome-wide association studies identify locus on 6p21 influencing lung function in the Korean populationRespirology20141936036824387323
  • Soler ArtigasMWainLVRepapiEEffect of five genetic variants associated with lung function on the risk of chronic obstructive lung disease, and their joint effects on lung functionAm J Respir Crit Care Med201118478679521965014
  • CastaldiPJChoMHLitonjuaAAThe association of genome-wide significant spirometric loci with chronic obstructive pulmonary disease susceptibilityAm J Respir Cell Mol Biol2011451147115321659657
  • LiYYangCMaGAssociation of polymorphisms of the receptor for advanced glycation end products gene with COPD in the Chinese populationDNA Cell Biol20143325125824520905
  • ManichaikulAHoffmanEASmolonskaJGenome-wide study of percent emphysema on computed tomography in the general population. The multi-ethnic study of atherosclerosis lung/SNP health association resource studyAm J Respir Crit Care Med201418940841824383474
  • SorciGRiuzziFGiambancoIRAGE in tissue homeostasis, repair and regenerationBiochim Biophys Acta2013183310110923103427
  • WuLMaLNicholsonLFBAdvanced glycation end products and its receptor (RAGE) are increased in patients with COPDRespir Med201110532933621112201
  • RobinsonABJohnsonKDBennionBGRAGE signaling by alveolar macrophages influences tobacco smoke-induced inflammationAm J Physiol Lung Cell Mol Physiol2012302L1192L119922505673
  • FineschiSDe CuntoGFacchinettiFReceptor for advanced glycation end products contributes to postnatal pulmonary development and adult lung maintenance program in miceAm J Respir Cell Mol Biol20134816417123144333
  • StogsdillMPStogsdillJABodineBGConditional overexpression of receptors for advanced glycation end-products in the adult murine lung causes airspace enlargement and induces inflammationAm J Respir Cell Mol Biol20134912813423526218
  • BeucherJBoëlleP-YBussonP-FAGER-429T/C is associated with an increased lung disease severity in cystic fibrosisPLoS One20127e4191322860029
  • GopalPGoskerHRTheijeCCEffect of chronic hypoxia on RAGE and its soluble forms in lungs and plasma of miceBiochim Biophys Acta20151852992100025703138
  • MiniatiMMontiSBastaGSoluble receptor for advanced glycation end products in COPD: relationship with emphysema and chronic cor pulmonale: a case-control studyRespir Res2011123721450080
  • CarolanBHughesGMorrowJThe association of plasma biomarkers with computed tomography-assessed emphysema phenotypesRespir Res20141512725306249
  • IwamotoHGaoJPulkkinenVSoluble receptor for advanced glycation end-products and progression of airway diseaseBMC Pulm Med2014146824758342
  • ChengDTKimDKCockayneDASystemic soluble receptor for advanced glycation endproducts is a biomarker of emphysema and associated with AGER genetic variants in patients with chronic obstructive pulmonary diseaseAm J Respir Crit Care Med201318894895723947473
  • GaensKHJFerreiraIvan der KallenCJHAssociation of polymorphism in the receptor for advanced glycation end products (RAGE) gene with circulating RAGE levelsJ Clin Endocrinol Metabol20099451745180
  • RyanDMVincentTLSalitJSmoking dysregulates the human airway basal cell transcriptome at COPD risk locus 19q13.2PLoS One20149e8805124498427
  • HunninghakeGMChoMHTesfaigziYMMP12, lung function, and COPD in high-risk populationsN Engl J Med20093612599260820018959
  • ArtigasMSLothDWWainLVGenome-wide association and large-scale follow up identifies 16 new loci influencing lung functionNat Genet2011431082109021946350
  • DeMeoDLMarianiTJLangeCThe SERPINE2 gene is associated with chronic obstructive pulmonary diseaseAm J Hum Genet20067825326416358219
  • DijkstraAEPostmaDSvan GinnekenBNovel genes for airway wall thickness identified with combined genome-wide association and expression analysesAm J Respir Crit Care Med201419154755625517131
  • ObeidatMMillerSProbertKGSTCD and INTS12 regulation and expression in the human lungPLoS One20138e7463024058608
  • KongXChoMHAndersonWGenome-wide association study identifies BICD1 as a susceptibility gene for emphysemaAm J Respir Crit Care Med2011183434920709820
  • HershCPPharmacogenetics of chronic obstructive pulmonary disease: challenges and opportunitiesPharmacogenomics20101123724720136362
  • SilvermanEKVestboJAgustiAOpportunities and challenges in the genetics of COPD 2010: an international COPD genetics conference reportCOPD2011812113521495840